Neuromuscular disorder

NEUROMUSCULAR DISORDER


The NeuronDening unit of the nervous systemSpecialized cell of the nervous systemConsists of a cell body, 525 m in diameter, with branching processes (dendrites) that are capable of receiving signals from other neuronal terminalsA ner, longer branch (the axon) carries the action potentials along its length to or from excitable target organsFurther signal transmission to the dendrites of another neuron, or neuro-excitable tissue like muscle, occurs at a synapse where the axon terminal releases a chemical neurotransmitter typically acetylcholine

All motor axons and the larger sensory axons serving touch, pain and proprioception are covered by a sheath the neurilemma and coated with myelin, a multilayered lipoprotein substance derived from the accompanying Schwann cells (or oligodendrocytes in the central nervous system).

Every few millimetres the myelin sheath is interrupted, leaving short segments of bare axon called the nodes of Ranvier.In these nerves the myelin coating serves as an insulator, which allows the impulse to be propagated by electromagnetic conduction from node to node, much faster than is the case in unmyelinated nerves.Consequently, depletion of the myelin sheath causes slowing and eventually complete blocking of axonal conduction

Most axons, in particular the small-diameter bres carrying crude sensation and efferent sympathetic bres, are not myelinated but wrapped in Schwann cell cytoplasm.Damage to these axons causes unpleasant or bizarre sensations and abnormal sudomotor and vasomotor effects.

NERVOUS PATHWAYSAnatomically, neurological structures can be divided into the central nervous system (the CNS, comprising the brain and tracts of the spinal cord) and the peripheral nervous system (PNS) which includes the cranial and spinal nervesIn terms of physiological function, both the CNS and the PNS have a somatic component and an autonomic component

The somatic nervous system provides efferent motor and afferent sensory pathways to and from peripheral parts of the body serving, respectively, voluntary muscle contraction and sensibilityThe autonomic system controls involuntary reex and homeostatic activities of the cardiovascular system, visceral organs and glands. Its two components, sympathetic and parasympathetic divisions, serve more or less opposing functions.

CNS and PNSCentral nervous system consists of the brain and spinal cord

Peripheral nervous system constitutes the link between the CNS and structures in the periphery of the body, from which it receives sensory information and to which it sends controlling impulsesT he peripheral nervous system consists of nerves joined to the brain and spinal cord (cranial and spinal nerves) and their ramifications within the body

Main nerve pathways

Simplied diagram showing the main neurological pathways to and from a typical thoracic spinal cord segment. Fibres carrying touch, sharp pain and temperature impulses (-------) decussate, in some cases over several spinal segments, and ascend in the contralateral spinothalamic tracts; those carrying vibration and proprioceptive impulses () enter the ipsilateral posterior columns. Motor neurons () arise in the anterior horn of the grey matter and innervate ipsilateral muscles.


SOMATIC MOTOR SYSTEMEfferent impulses are conducted along axons in the corticospinal or pyramidal tracts (upper motor neurons UMN) and along peripheral nerves from cell bodies in the anterior horn of the spinal cord to striated muscle bres (lower motor neurons LMN)The terminal synapses are situated at the neuromuscular junctions.

Each large a-motor neuron innervates from a few to several hundred muscle bres (together forming a motor unit) and stimulates muscle bre contraction.In large muscles of the lower limb, power is adjusted by recruiting more or fewer motor units. Smaller -motor neurons connect to sensors (muscle spindles) that control proprioceptive feedback from muscle bres.

SOMATIC MOTOR SYSTEM

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SOMATIC SENSORY SYSTEM

Axons conveying afferent impulses from receptors in the skin and other peripheral structures enter the dorsal nerve roots, with their cell bodies in the dorsal root (or cranial nerve) ganglia, and end in synapses within the central nervous system.Myelinated bres carrying sensory stimuli from touch, pressure, pain and temperature (exteroceptive sensation) decussate and enter the contralateral spinothalamic tracts running up the spinal cord to the brain.

Fibres from sensors in the joints, ligaments, tendons and muscle carrying the sense of movement and bodily position in space (proprioceptive sensation) join the ipsilateral posterior columns in the spinal cord.

SOMATIC SENSORY SYSTEM

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REFLEX ACTIVITY AND TONESudden stretching of a muscle (e.g. by tapping sharply over the tendon) induces an involuntary muscle contraction the stretch reexThe sharp change in muscle bre length is detected by the muscle spindle; the impulse is transmitted rapidly along myelinated afferent (sensory) neurons which synapse directly with the corresponding segmental -motor neurons in the spinal cord, triggering efferent signals which stimulate the muscle to contract.

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Segmental reex activity is normally regulated by motor impulses passing from the brain down the spinal cord. Interruption of the UMN pathways results in undamped reex muscle contraction (clinically hyperactive tendon reexes) and spastic paralysis.Damage to either afferent or efferent neurons in the reex arc causes hypotonia; interruption of the LMN pathway results in accid LMN paralysis.

AUTONOMIC SYSTEMThe autonomic system is involved with the regulation of involuntary activities of cardiac muscle and smooth (unstriated) muscle of the lungs, gastrointestinal tract, kidneys, bladder, genital organs, sweat glands and small blood vessels, with afferent (sensory) and efferent (motor) pathways constituting a continuously active reex arc (though there is also some input from higher centres).In addition afferent bres also convey visceral pain sensation.

Preganglionic sympathetic neurons leave the spinal cord with the ventral nerve roots at all levels from T1 to L1, enter the paravertebral sympathetic chain of ganglia and synapse with postganglionic neurons that spread out to all parts of the body; they may also run up or down the sympathetic chain to synapse in other ganglia or pass on to become splanchnic nervesImportant functions are the reex control of heart rate, blood ow and sweating, as well as other responses associated with conditions of ght and ight.

Parasympathetic neurons leave the CNS (from the brain-stem) with cranial nerves III, VII, IX, X and with the nerve roots of S2, 3 and 4 to reach ganglia where they synapse with postganglionic neurons close to their target organs.

Peripheral nerves Peripheral nerves are bundles of axons conducting efferent (motor) impulses from cells in the anterior horn of the spinal cord to the muscles, and afferent (sensory) impulses from peripheral receptors via cells in the posterior root ganglia to the cord.They also convey sudomotor and vasomotor bres from ganglion cells in the sympathetic chain.

Peripheral Nerve Structure

SKELETAL MUSCLEEach skeletal muscle belly, held within a connective tissue epimysium, consists of thousands of muscle bres, separated into bundles (or fascicles). Each fascicle is surrounded by a imsy perimysium which envelops anything up to about 100 muscle bres; large muscles concerned with mass movement, like the glutei or quadriceps, have a large number of bres in each fascicle, while muscles used for precision movements (like those of the hand) have a much smaller number in each bundle.

The muscle bre is the important unit of all striated muscle. Lying in a barely discernable connective tissue cover, or endomysium, it is in actuality a single cell with a cell membrane (the sarcolemma), a type of cytoplasm (or sarcoplasm), mitochondria and many thousands of nuclei; its diameter is about 10 m at birth and 6080 m in mature adults

The -motor neuron and the group of muscle bres it supplies constitute a single motor unit; the number of muscle bres in the unit may be less than ve in muscles concerned with ne manipulatory movements or more than 100 in those employed in gross power movements.

SKELETAL MUSCLE

Muscle FibreMuscle bres are also of different types, which can be distinguished by histochemical staining. Type I bres contract slowly and are not easily fatigued; their prime function is postural control.Type II bres are fast contracting but they fatigue rapidly; hence they are ideally suited to intense activities of short duration.

All muscles consist of a mixture of bre types, the balance depending on anatomical site, basic muscle function, degree of training, genetic disposition and response to previous injury or illness.Long-distance runners have a greater proportion of type I bres than the average in age- and sex-matched individuals


Muscle ContractionMuscle contraction is a complex activity. Individual myobrils respond to electrical stimuli in much the same way as do motor neurons. However, muscle bres, and the muscle as a whole, are activated by overlap and summation of contractile responses. When the bres contract, internal tension in the muscle increases.

In isometric contraction there is increased tension without actual shortening of the muscle or movement of the joint controlled by that muscle. In isotonic contraction the muscle shortens and moves the joint, but tension within the muscle bres remains constant.

Muscle ToneMuscle tone is the state of tension in a resting muscle when it is passively stretched; characteristically tone is increased in upper motor neuron (UMN) lesions (spastic paralysis) and decreased in lower motor neuron (LMN) lesions (accid paralysis).

Muscle contracture Muscle contracture (as distinct from contraction) is the adaptive change which occurs when a normally innervated muscle is held immobile in a shortened position for some length of time. If a joint is allowed to be held exed for a long time, it may be impossible to straighten it passively without injuring the muscle. Active exercise will eventually overcome the muscle contracture, unless the muscle has been permanently damaged.

Muscle Wastingfollows either disuse or denervation; in the former, the bres are intact but thinner; in the latter, they degenerate and are replaced by brous tissue or fat

Muscle FasciculationMuscle fasciculation or muscle twitch is a local involuntary muscle contraction of a small bundle of muscle bres. It is usually benign but can be due to motor neuron disease or dysfunction.

CLINICAL ASSESSMENT

HistoryAge importantArthrogryphosis & spina bifida at birthCerebral palsy -> later in childhoodPoliomyelitis childhood may be seen in any ageSpinal cord lesions & peripheral neuropathies common in adultsOrthopaedic surgeon mainly with residual effects of neurological disease may require diagnosis & treatment throughout life

Muscle weakness :UMN, LMN or muscle disordersType of weakness, distribution, rate of onset diagnosis

Numbness & paraesthesiae :May be main complaintsImportant to establish their exact distribution localize lesion accuratelyRate of onset & relationship to posture cause

DeformityCommon complaint in long-standing disordersFrom muscle imbalance hand in hand with other symptomsMinor degrees of weakness in 1 muscle group may unnoticed deformity appears so insidiously may escape detection eg. claw toes, scoliosis

Other FeaturesHeadacheDizzinessLoss of balanceChange in visual acuity / hearingDisorder of speechLoss of bladder / bowel control

ExaminationComplete neurological assessment

The back skin changes, local deformities, mobility

Patients mental stateMuscle tone & power

Natural postureReflexesGaitSkin changesSense of balanceVarious modes of sensibility & autonomic functions (eg. sphincter control)Involuntary movementsPeripheral blood flowMuscle wastingSweating

Grading Muscle PowerRepetition progress to be recorded0 Total paralysisBarely detectable contractureNot enough power to act against gravityStrong enough to act against gravityStill stronger but less than normalFull power

Dermatomes supplied by spinal nerve roots

GAIT and POSTUREA single gait cycle consists of a stance phase (60 per cent) and a swing phase (40 per cent) and each full cycle represents the stride lengthDystonia This term refers to abnormal posturing (focal or generalized) that may affect any part of the body and is often aggravated when the patient is concentrating on a particular motor task such as walking

Gait cycle

Antalgic gait

Spastic gait

Drop Foot Gait

High-Stepping gait

Waddling (Trendelenburg) gait

Ataxic gait

Motor Power and ToneGRADEDESCRIPTION0No muscle action. Total paralysis1Minimal muscle contraction2Power insufficient to overcome gravity3Anti-gravity muscle power4Less than full power5Full power

WeaknessMonoplegiaIndicative for lower motor neuron defectMovement affected on clinical test will suggest the anatomical locationHemiparesisWeakness either the right or left sidePathology between cerebral cortex and cervical segment of spinal cordUpper Motor Neuron type (spastic)Complete loss of power: hemiplegia

WeaknessDiplegiaBoth upper limb or both lower limbCan be either UMN or LMN disorderQuadriplegiaAll four limb affected

DeformityUnbalanced paralysisOne group of muscle is too weak to balance the pull of the antagonis

Balanced paralysisThe joint assumed that the position imposed on it by gravity and it may feel floppy or flail

Sensation

ImagingPlain X-rayRoutine for all disordersFracture and dislocationCT-ScanReveal relation between bone fragment to nerve structureMRI

NEUROPHYSIOLOGICAL STUDIESMotor Nerve ConductionStimulate electrically at an easy subcutaneous site until it propagates an action potensial on target muscle

Measurement:LatencyIt takes in ms (millisecond)Time for impulse to reach the muscleAmplitude of the Compound Muscle Action Potential (CMAP)In mV (millivolts)Magnitude of the responseNerve Conduction VelocityMeasure the distance from stimulating electrode to the recording elecctrode, and divide by the latency

ms time for impulse to reach muscle latencymV magnitude of response amplitude of the evoked compound muscle action potential (CMAP)By measuring the distance from the stimulating electrode to recording electrode, and setting against latency nerve conduction velocity (NCV) metres/secondIn practice, more useful & accurate to stimulate the nerve at 2 points distal & proximal site, and subtract distal latency from proximal latency to obtain a truer measurement for intervening segment of nerve

To measure NCV of median nerve in carpal tunnel stimulating electrode first distal to carpal tunnel & then in upper forearmAmplitude proportional to number of motor units stimulated : if patient has lost of nerve fibres in peripheral nerves (compression, trauma, vascular insufficiency), size of elicited CMAP will be reduced by 50% compared to contralateral normal limbCMAP on proximal stimulation smaller than distal stimulation conduction block a feature of a potentially recoverable neuropraxic lesion

Conduction slowing of uniform degree along the whole length of nerve demyelinating neuropathy Charcot Marie Tooth syndrome

Sensory Nerve ConductionIn a similar manner, sensory nerve action potential (SNAP) may be recorded by stimulating a suitable subcutaneous sensory nerve & recording with surface electrodes on the skin over a measured distance along the same sensory nerve from index & middle fingers of median nerveSNAP is much smaller in amplitude than CMAP microvolts

Clinical nerve conduction studies estimate population of large myelinated sensory or motor nervesType C fibres (small myelinated fibres pain & temperature) amplitude below sensitivity of recording techniques & slowed velocity (5-10 m/sec) cannot be tested with standard clinical techniques


Electromyography (EMG)Concentric needle electrode (small hypodermic needle) is inserted into muscle & connected to oscilloscopic screen & loudspeaker record electrical discharge of motor units in a muscle visual pattern & crackling soundsAt rest, normal muscle is silentPatient slowly contracts progressive in number & also amplitude of motor unit action potentials recognizable pattern

Full recruitment pattern usually looks & sounds like white noise so many motor units firing both spikes on screen & crackles from speakers overlap each other interference patternIn nerve disorders, muscle may not be silent at rest insertional activity

Motor nerve fibre loss / disruption changes of active denervation (fibrillation potentials & positive sharp waves) denervated muscle fibres firing spontaneously 7-12 days after axonal disruption

Chronic neuropathy, with re-sprouting of remaining viable nerve fibres longer re-innervated motor units with polyphasic or higher amplitude profile

Diagnostic Evaluation of The PatientWhen investigating a specific nerve root syndrome, nerve conduction & EMG studies are concentrated in appropriate anatomical territory findings are compared to those in other nerve root territories in the same level as well as the contralateral (usually asymptomatic) limbMononeuropathy / plexopathy compare conduction values (amplitude & velocity) in 1 limb to those in the other

Focal entrapment reduced amplitude on proximal stimulation compared to distal stimulation conduction block or significant focal conduction slowingNeurophysiological signs of neuropathic disorder : motor or sensory potentials nonfunctioning (perhaps transected) nervesLoss of sensory responses (SNAP) disorder distal to spinal foramen; intact SNAP in hypaesthetic limb disease proximal to foramen

Conduction block neuropraxic recoverable injuryDenervation changes on EMG >10 days after injury significant nerve damage & loss of motor nerve functionAny recruited volitional motor units in a weak limb potential for recoveryThe presence of intact sensory potential is what distinguishes root & proximal disease from peripheral entrapment & plexus disease

Intraoperative Neurophysiological TechniquesSpinal Monitoring : somatosensory evoked responses (SSEP)Neurophysiological tests are sometimes necessary during corrective spinal operations obviate injury to the cordEEG averaging records from scalp overlying patients sensory parietal cortex one must average the obtained responses from at least 100-200 stimuli to differentiate time-linked evoked response from the background brain EEG activity

The important measured parameter is usually the latency of the responseAccidental nerve injury during surgery around spinal cord will produce a delay in the latency or a sudden loss of the evoked responseOther intraoperative techniques :Nerve or nerve root stimulation demonstrate conduction block or slowing or normal continuity of nerveIntraoperative EMGCord-to-cord stimulation & cord-to-cortical potential measurement reveal intraoperative evidence of spinal pathway disruption


CEREBRAL PALSY

ExaminationA group of disorders result from non-progressive brain damage during early development abnormal movement & posture2 : 1000 live births highest in premature babies & multiple birthsCauses : maternal toxaemia, prematurity, perinatal anoxia, kernicterus, postnatal brain infections / injuryBirth injury unusual cause

May also cause damage to other areas of developing brain epilepsy, perceptual & behavioural problems, learning difficultiesMain consequence development of neuromuscular incoordination, dystonia, weakness, spasticityOro-facial motor incoordination difficult speech & swallowing, droolingNone of these defects implies poor intellect

ClassificationUsually according to type of motor disorder, with subdivisions referring to topographical distribution of clinical signs

Type of Motor DisorderSpasticity commonest damage to pyramidal system in CNS muscle tone & hyper-reflexiaResistance to passive movement may obscure a basic weakness of affected musclesHypotonia a phase several years during early childhood before features of spasticity become obvious

Athetosis continuous, involuntary, writhing movements damage to extrapyramidal systems of CNSPure athetoid CP joint contractures are unusual, muscle tone is not Dystonia may occur with athetosis more generalized in muscle tone & abnormal positions induced by activity

Ataxia muscular incoordination during voluntary movements due to cerebellar damage balance is poor walks with a characteristic wide-based gaitMixed palsy combination of spasticity & athetosis can make results of surgical intervention unpredictable

Athetosis

Dystonia

Ataxia

In some types of CP considerable variability in tone & posture from day to day / situation to situationIf surgical treatment being considered, never based on a single assessment when, due to stress, child appears to have abnormally high tone & muscle contractures

6 months twins developed quite differentlyLack of head and arm control99

Lack of body control when helped to the sitting position100

Inability to sit unaided101

Topographic DistributionHemiplegia commonest spastic palsy on 1 side of body with upper limb more severely affected than lower most can walk & respond reasonably well to treatmentDiplegia both sides of body with lower limbs always most severely affectedSide to side involvement may be asymmetrical asymmetric diplegia, bilateral hemiplegiaMany cases are secondary to prematurity & periventricular leucomalacia on brain MRI Intelligence is often normal Less severely reasonable mobility

Hemiplegia commonest spastic palsy on 1 side of body with upper limb more severely affected than lower most can walk & respond reasonably well to treatmentDiplegia both sides of body with lower limbs always most severely affectedSide to side involvement may be asymmetrical asymmetric diplegia, bilateral hemiplegiaMany cases are secondary to prematurity & periventricular leucomalacia on brain MRI Intelligence is often normal Less severely reasonable mobility102

Total body involvement general & often more severe disorder affecting all 4 limbs, trunk, neck, face with varying degrees of severityUsually have low IQ, may have epilepsy, often unable to walk, poor treatment response

Monoplegia occasionally in an upper limb, other areas are involved as wellTrue monoplegia so unusual other diagnoses should be considered (eg. Neonatal brachial plexopathy)

HemiplegicDiplegicWhole body

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Diagnosis in InfancyFull-blown clinical picture may take months / years to developPrenatal toxaemia, haemorrhage, premature birth, difficult labour, foetal distress, kernicterus arouse suspicionNeonatal ultrasound scan of head intracerebral bleeding

Early symptoms:Difficulty in sucking & swallowing, dribbling at mouthBaby feels stiff / wriggles awkwardlyApparent that motor milestones are delayedNormal : holds up its head at 3 mo, sits up at 6 mo, begins walking at 1 year

Diagnosis in Later ChildhoodBleck (1987) 7 tests for children over 1 year idea of severity & prognosis for walkingPrimitive neck-righting reflex, asymmetrical & symmetrical tonic neck reflexes, Moro reflex, extensor thrust response all disappeared at 1 yearRetain > 2 primitive reflexes, cant sit unsupported by 4 yo, cant walk unaided by 8 yo unlikely ever to walk independently

Ideally reviewed by a multidisciplinary teamGross Motor Function Classification System (GMFCS) relative to their age, in terms of mobility & bases this on their average function, not the best that they can achieve on a given occasion reliable & valid

Sitting PostureChildren with a hypotonic trunk may slump into a kyphotic posture & others may always fall to one sideIn attempting to sit, lower limbs may be thrust into extensionMay be an obvious scoliosis / pelvis obliquity

Standing PostureTypical case of spastic diplegia stands with hips flexed, adducted, internally rotated; knees flexed; feet equinusWith tight hamstrings, normal lumbar lordosis may be obliterated & may have difficulty standing unsupportedOften attempts to correct 1 deformity may aggravate another important to establish which deformity are primary & compensatory

Many patients show pelvic obliquity & scoliosisAsking child to stand tall, watching their response often gives some insight into dynamic nature of posture & muscle strength, intellectual abilityBalance reactions are often poor

Adductor spasm (scissor stance)Flexion deformity of hips and knees with equinus of the feetGeneral posture and characteristic facial expressionAtaxic type of palsy114

GaitObserved with & w/o shoes / orthotic supportsDystonic, athetoid, ataxic movements may become more noticeable during walkingEvery opportunity must be taken to observe gait differences between normal & best behaviour walking can be identifiedIn hemiplegics, best behaviour walking may demonstrate a flat foot pattern with heel coming down most of the time while more normal / representative pattern will highlight asymmetric flexed knee & toe-walking pattern

Clinical Gait AnalysisEach limb must be observed in both stance & swing phases of gait & in coronal, sagittal & transverse planesLack of free rotation at hip trunk has to move from side to side as each leg swings through & with adduction scissoring actionNarrow walking base, when combined with hip & knee flexion & foot equinus strong tendency to fall helped by cruthces

Computerized Gait AnalysisIdeally supplements observational gait analysisKinematics (joint & limb segment movement)Kinetics (joint moments & powers)EMG (identification of phases in which muscles are firing)Pedobarography (foot pressures)Metabolic energy analysis (assessment of cost of walking)To help clinician distinguish between dynamic & fixed tightness & in identification of dyskinesia

Neuromuscular ExaminationTypical features of UMNMuscle tone, power & ROM at each jointPhysical signs may vary from day to day / even minute to minute emotional state, room temperatureTakes time

Deformity AssessmentAt each joint & relate it to muscle-tendon lengthDeformity at 1 level may be markedly affected by position of joints above & belowAnkle equinus with knee extended often disappears when knee is flexed can differentiate between tightness in soleus & gastrocnemius muscle

Silfverskild TestSupine on examination couchKnee flexed to a right angle & ankle dorsiflexed tests soleus tightnessThen knee fully extended & ankle dorsiflexion is repeated tests gastrocnemius tightnessTight hamstrings may limit knee extension more with hips flexed than when hips extendedTight gracilis hip adduction may be easier in flexion than in extension

Silfverskild Test

Hip abduction is restricted order x-ray to look for subluxation of jointIn upper limb, finger flexors may be tight with wrist extended but if wrist is allowed to flex the fingers can extendChildren can use these fixed-length reactions to manipulate their hand & finger function using trick movements

Patient with total body involvement spinal deformity is common scoliosis, often associated with pelvic obliquityKyphosis & lordosis also occurSENSATIONOften not entirely normalProblems with stereognosis (as well as with perception) important factors contributing to upper limb disability

Muscle ContractureA degree of muscle contracture is almost inevitable with all forms of CP longstanding spasticity relative shortening of muscles fixed contractures & changes in joint congruityMost of the effects seen during period of growthAfter skeletal maturity, changes in muscle-tendon length & joint contracture much less progressive

Bony DeformityNormal bone growth is influenced by muscle pullChildren with persistent abnormal muscle pull failure of normal modelling & new deformities can developNormal degree of femoral neck anteversion persists & sometimes even increases with growth rather than improving significant external tibial torsion may also be present

Persistent adduction of hip valgus of femoral neck, acetabular dysplasia, subluxation of jointFlexion deformity of knee upward displacement of patella & patello-femoral painExternal tibial torsion planovalgus deformity of foot

Structural ScoliosisFlexible curves are common, but many become structural especially likely in total body involvement


ManagementNo single blueprintGoal SettingFew patients with total body involvement will ever talkPrognosis for walking in spastic diplegia Blecks criteria & Beals

Priorities for all CP patients are :Ability to communicate with othersAbility to cope with activities of daily living (including personal hygiene)Independent mobility may mean a motorized wheelchair rather than walking

Realistic goals for child who from an early age is recognized to be non-walking are :Straight spine with a level pelvisLocated, mobile, painless hip that flex 90o & extend comfortable sleeping & participation in standing / swivel transfersKnees that mobile enough for sitting, sleeping, transferringPlantigrade feet that fit into shoes & rest on footplates of wheelchair comfortably

Tone ManagementMedical treatment anticonvulsants for seizures,short-term benzodiazepine for postoperative pain,trihexyphenadryl for dystonia

Baclofen Agonist gamma-aminobutryic acid (GABA) inhibits reflex activityOral doesnt cross blood-brain barrier wellReduces muscle tone / spasticity generallyNegative effect on head & trunk control side effects : drowsiness its use may be limitedIntrathecal via refillable, subcutaneous implanted pump dose administered can be titrated according to childs response

Long-term studies not yet available appears most effective in severe spasticity / dystoniaNot effective in all patients & test doses & assessment of its benefits required in all prospective patients

DantroleneProduces weakness w/o much in spasticity rarely used in CPAnalgesic medication pain associated with muskuloskeletal problems, constipation, gastro-oesophageal reflux

Botulinum ToxinBlocking acetyl choline release at neuromuscular junctionInjected into spastic muscle at (or as near as possible to) motor end pointUsual targets : hip adductors, hamstrings, gastrocnemius, tibialis posteriorWeakness / paralysis takes a few days to become obvious temporary (as new nerve terminals form) 10-12 wk

Not be used on its ownFollowed by physiotherapy input & often an alteration in orthotic / splinting regimensFocal treatment for a dynamic muscle imbalance that is interfering with function deformity, painMore effective in younger children less likely to have fixed deformity

Multilevel injections may be required but overall dose per child must be kept within safe limitsFor postoperative pain & spasm for optimal effect, need to be given some days prior to surgery

Selective Dorsal RhizotomyDivision of selected dorsal nerve roots from L1 to S2 has only recently gained wide acceptance spasticity & rebalance muscle tone selectively input from muscle spindles less excitation of anterior horn cellsLong-term studies not yet available

Good results in children aged 3-8 years with criteria :Walking but have significant spasticityBorn prematurelyHave good intellectual function & good voluntary controlRelative contraindication : fixed contractures may need surgical correction

Physical Therapy or prevent problems arising from abnormal muscle tone, imbalance between opposing muscle groups & abnormal body balance mechanismsA range of regular movement exercises will prevent or (perhaps more realistically) degree of muscle / joint contractureMost helpful in early childhood up to age 7 or 8 yearsPostoperative physiotherapy is essential maximize effects of surgery & overcome immediate pain, stiffness & weakness

Positioning & splintingDisadvantageous positions hip adductionSplintsTo prevent muscle contracture, maintain joint position, improve movement & function, maintaining position following surgeryBadly fitting splint does nothing provokes pain & spasm & deformityManipulation & serial castingLimited role in improving muscle / joint contractures relaps is frequent

Operative TreatmentIndications :Spastic deformity which cannot be controlled by conservative measuresFixed deformity that interferes with functionSecondary complications bony deformities, dislocation of hip & joint instabilityWeak muscles can be augmented by tendon transfers gravity plays important part in guiding choice of tendon transfers

Timing is often crucialCNS & gait pattern matures around age 7-8 yearsOur preferred approach is to avoid little and often surgery in favour of all or none philosophy, but some patients require former & some the latterEarlier operation may be called for if hip threatens to dislocate

Regional Survey : Upper LimbMost typically in child with spastic hemiplegia or total body involvement flexion of elbow, pronation of forearm, flexion of wrist, clenched fingers, adduction of thumbAimed at improving resting position of limb & restorating grasp

Elbow Flexion DeformityIf elbow can extend to a right angle no treatmentOccasionally necessary to treat a more marked flexion contracture by fractional lengthening of biceps & brachialis tendons release of brachialis origin

Forearm Pronation DeformityFairly common subluxation / dislocation of radial headSimple release of pronator teres or tendon can be rerouted round back of forearm act as a supinator

Wrist Flexion DeformityUsually in an ulnar direction improved by lengthening or releasing FCUIf extension is weak, released flexor tendon is transferred into one of wrist extensorsSevere cases wrist arthrodesis with excision of proximal carpal row cosmetic rather than functional benefit

Flexion Deformity of The FingersSpasticity of long flexor muscles clawingFlexor tendons can be lengthened individuallySevere deformity forearm muscle slide more appropriateIf fingers can be unclenched only by simultaneously flexing wrist, obviously important not to extend wrist by tendon transfer or fusion

Thumb-in-palm deformityDue to spasticity of thumb adductors or flexors (or both), but later there is also contracture of FPLMild cases function can be improved by splinting thumb away from palm, or by operative release of adductor pollicis & 1st dorsal interosseus musclesResistant deformity combined lengthening of FPL & release of thenar muscles, followed by tendon transfers reinforce abduction & extension

Regional Survey : Lower LimbSPASTIC HEMIPLEGIAFoot/ankleTibialis anterior invariably weak equinovarus foot deformityActive plantar flexion to assist knee extension during stance phase care when considering lengthening of gastroknemius / soleus complexPerform muscle recession rather than tendon lengthening

Dynamic varus deformityTreated by a split tibialis anterior tendon transfer to outer side of foot only is transferred to avoid risk of overcorrection into valgusOlder children with fixed deformity formal muscle lengthening with or w/o calcaneal osteotomy

Pes ValgusMay require subtalar arthrodesis

Hip/kneeSurgery is not usually required LLDDiscrepancies in growth often short irrespective of any joint contractureEpiphyseodesis of contralateral distal femoral and/or proximal tibial physes can improve some aspects of gait pattern

SPASTIC DIPLEGIATreatment is concentrated on lower limbsVery young child physiotherapy & splintage prevent fixed contracturesSurgery to correct structural defects (fixed contracture, hip subluxation), improve gait3-4 yo sitting & walking pattern interrelationship between various postural defects, esp lumbar lordosis/hip flexion, knee flexion/ankle equinus

Most children will walk but delayed in learning to master thisNot walking by 6-7 yo is unlikely to do soNon-ambulant children often have orthopedic problems similar to those with total body involvementWalking diplegics observational gait analysis is important & computerized gait analysis may have role in guiding treatment each limb assessed independently

Hip adduction deformityWalks with thighs together, sometimes scissors gaitMay be combined with spastic internal rotationAdductor release is indicated if passive abduction 30o operativeWalking child not to weaken hip flexion too much intramuscular lengthening of psoas tendon at pelvic brim is advocatedNon-walking child psoas release at level of lesser trochanter is allowedAssociated fixed flexion deformity of knee may require medial hamstring lengthening

Hip internal rotation deformityUsually associated with flexion & adduction adductor release & psoas lengthening will be helpfulAfter a few years rotation still excessive derotation osteotomy of femur (subtrochanteric or supracondylar) this may have to be followed by compensatory rotation osteotomy of tibia

Hip subluxationIn 30% CP childrenPersistent flexion-adduction deformity femoral neck anteversionWeak abductors & not fully weightbearing risk of acetabular dysplasia & subluxation of joint in non-walkers, may be complete dislocationCorrection of flexion & adduction deformities before 6 yo may have a role in preventing subluxation

Older children may need varus-derotation osteotomy of femur, perhaps combined with acetabular reconstructionLongstanding dislocation in non-walker may be impossible to reconstruct; if discomfort makes operation imperative, proximal end of femur can be excisedAdult walking displegic patient total hip replacement in cases where painful degenerative change is affecting function

Knee flexion deformityOne of commonest deformitiesUsually due to functional hamstring tightness, often aggravated by hip flexion or weakness of ankle plantar flexionSpastic flexion deformity may be revealed only when hip flexed to 90o hamstrings tightenedCapsular contracture of knee joint is uncommonGait analysis deciding hamstrings truly short or only functionally short

Fractional lengthening of hamstrings (medial more often) improve gait mechanics risks weakening hip extension & exacerbating hip flexion/lumbar lordosis hamstrings normally assist with hip extensionFractional lengthening of semimembranosus can be combined with detachment & transfer of semitendinosus to adductor tubercle at distal end of femurGood results (Ma et al, 2006) in children with bilateral spastic flexion deformities >15 o combined with flexed-knee posture when standing or walking & ability to stand & walk only with support

Severe flexion deformities (>25-30o) extension osteotomy of distal femur or physeal plating anteriorlyKnee extension is aided by plantarflexionof foot in walking important not to weaken triceps surae by overzealous lengthening of Achilles tendonSpastic knee extensionSimple tenotomyof proximal end of rectus femoris

External tibial torsionSupramalleolar osteotomyFirst ensure that deformity is not actually advantageous in compensating for ankle/hindfoot deformity

Equinus of the footUsually toe-walks triggers excessive plantar-flexion-knee extension couple manifested as knee hyperextensionChildren with limited dorsiflexion gastrocnemius is often more affected than soleusSelective fractional lengthening of fascia/muscle is gaining favour but judicious percutaneous lengthening of Achilles tendon still popularRelative overlengthening problem, particularly when associated knee flexion contractures exist

If varus deformity is present, treatment is as for hemiplegic patientMore common deformity equinovalgus and a rocker-bottom foot makes use of splints difficult & disrupts plantarflexion-knee extension couple, exacerbating knee flexion postureImportant to note whether hindfoot deformity is reducible or notCalcaneal lengthening or displacement osteotomy but often subtalar fusion is required

Such surgery must combined with release of tight structures (eg. Achilles tendon) & possibly peroneal lengthening & plication of medial structures when appropriateExternal tibial torsion supramalleolar osteotomy but remember that externally rotated gait pattern may be compensating for an inability of foot to clear the ground when walking because of weak muscles / stiff joints

Single event multi-level surgery (SEMLS)Usually has problems at all levelsEnhance mechanical efficiency of gait by combaining changes at hip, knee & ankleSoft tissue & bony surgery to both limbs can be performed at one sitting or staged over a few weeksPostoperative rehabilitation is complex & time-consuming but results can be very rewarding

Total Body InvolvementHipHip subluxation progressing to dislocation is commonAdduction & flexion contractures more frequent & severe risk of developing subluxation with acetabular dysplasiaOften windswept one hip lying adducted, flexed, internally rotated while other lies in abduction & external rotation & often more extended release hip abductors & extensors gluteus maximus & iliotibial band

Hip subluxation (>30% uncovering of femoral head) may require femoral varus derotation (& shortening) osteotomy as well as acetabular procedure for correction in addition to soft-tissue releasesHip has dislocated open reduction, release soft tissue & bony realignmentAlternative proximal femoral resectionComplex surgery & high complication rates

Spine / PelvisScoliosis is very common (>50%)Often a long C-shaped thoracolumbar curve frequently incorporates pelvis which is tilted obliquely so that one hip is abducted & other adducted & threatening to dislocateTrunk muscle involvement due to CP major determinant of developing deformityVarious forms of non-operative treatment some cases opt for long-term use of adapted wheelchair

Indications for surgery : Progressive curve >40o in a child >10 yoInability to sit w/o supportRange of hip movement that will allow child to sit after spinal stabilizationFixation with pedicle screws & rods extending from thoracic spine to pelvisRecreate lumbar lordosis at least temporarily, exacerbate hamstring tightness making sitting more difficult

Complications :Neurological defectsProblems with wound healingImplant failureThis type of spinal surgery life expectancy, but demonstrating concurrent improvement in quality of life has been more difficult to proveOther jointsSurgery may be required & follows principles outlined for hemiplegic & diplegic patient

Adult Acquired Spastic Paresis

Cerebral damage following stroke or head injury persistent spastic paresis in adult can be accompanied by disturbance of propioception & stereognosisEarly recuperative stage physiotherapy & splintage prevent fixed deformities all affected joints should be put through full range of movement every dayBotulinum toxin may be beneficial in resistant cases

Deformities that passively correctible should be splinted in neutral position until controlled muscle power returnsPropioception & coordination occupational th/Once max motor recovery has been achieved (9 mo after stroke but >1 year after brain injury), residual deformities or joint instability should be considered for operativeSufficient cognitive ability, awareness of body position in space, good phychological impetus if lasting result is to be expected

Lower limbs principal deformities requiring correction equinus or equinovarus of foot, flexion of knee, adduction of hipUpper limb chances regaining controlled movement 24 hours irreversible

Any spinal injury may be associated with cord damage great care in transporting & examining patientIn early period of 'spinal shock' flaccid paralysis, with or without priapismPlain x-rays seldom show full extent of bone displacement much better by CT / MRI

Unstable injuries operative decompression and/or stabilization; stable injuries conservativelyMany centres consider use of corticosteroids reducing degree of permanent neurological damage side effects : GI haemorrhage & arrascular necrosis

Epidural abscess surgical emergency acute pain & muscle spasm, fever, leucocytosis, ESR X-rays disc space narrowing & bone erosion immediate decompression & antibioticsAcute disc prolapse unilateral symptoms & signsComplete lumbar disc prolapse cauda equina syndrome urinary retention & overflowSpinal canal obstruction MRIOperative discectomy urgent

Chronic discogenic disease narrowing of intervertebral foramina & compression of nerve roots (radiculopathy), bone hypertrophy, pressure on spinal cord (myelopathy) x-ray & MRI operative decompressionSpinal stenosis direct pressure on cord / nerve roots, vascular obstruction, ischaemic neuropathy during hyperextension of lumbar spine 'tiredness', weakness, aching / paraesthesia in lower limbs after standing / walking for a few minutes relieved by bending forward, sitting / crouching so as to flex lumbar spine

Congenital narrowing of spinal canal rare, except in developmental disorders (achondroplasia) bony decompression of nerve structuresVertebal disease TB / metastatic disease cord compression & paraparesis x-ray needle biopsy for confirmation anterior decompression & internal stabilization, radiotherapy, corticosteroids, narcotics

Spinal cord tumours comparatively rare progressive paraparesisX-rays bony erosion, widening of spinal canal / flattening of vertebral pediclesWidening of intervertebral foramina typical of neurofibromatosis operative removal of the tumourIntrinsic lesions of cord slowly progressive neurological signs tabes dorsalis & syringomyelia neuropathic joint destruction

Tabes dorsalis late manifestation of syphilis degeneration of posterior columns of spinal cord 'lightning pains' in lower limbsSensory ataxia stamping gait; loss of position sense & pain sensibility; trophic lesions in lower limbs; progressive joint instability; almost painless destruction of joints (Charcot joints)No treatment for cord disorder

Syringomyelia long cavity (the syrinx) filled with CSF develops within spinal cord usually the cause is unknown, sometimes associated with tumours / SCI & congenital anomalies (hidrocephalus & herniation of cerebellar tonsils)Symptoms & signs most noticeable in upper limbs expanding cyst presses on anterior horn cells weakness & wasting of hand muscles

Destruction of decussating spinothalamic fibres in centre of cord sensory loss in upper limbs: impaired response to pain & temperature but preservation of touchTrophic lesions in fingers & neuropathic arthropathy ('Charcot joints') in upper limbsCT expanded cord & syrinx MRIDeterioration may be slowed down by decompression of foramen magnum

SPINA BIFIDA

Congenital disorder 2 halves of posterior vertebral arch fail to fuse at 1 levelsNeural tube defect, or spiral dysraphism 1st month of foetal life lumbar / lumbosacralMost severe form major neurological problems in lower limbs & incontinence

SPINA BIFIDA

Spina bifida occulta Mildest forms of dysraphism midline defect between the laminae & nothing moreUsually L5Telltale defects in overlying skin dimple, pit, tuft of hairTethering of conus medullaris below L1, splitting of spinal cord (diastematomyelia), cysts / lipomas of cauda equina

Spina bifida cystica Vertebral laminae missing & contents of vertebral canal prolapse through defectAbnormality takes 1 of several formsLeast disabling meningocele 5%Duramater open posteriorly, meninges intact, CSF-filled meningeal sac protrudes under skinSpinal cord & nerve roots remain inside vertebral canal no neurological abnormality

MyelomeningoceleMost common & serious abnormality lower thoracic spine / lumbosacral Part of spinal cord & nerve roots prolapse into meningeal sacNeural tube fully formed & sac covered by membrane and/or skin closed myelomeningoceleIn others cord in unfolded neural plate forming roof of sac open myelomeningocele neurological deficit distal to level of lesionIf neural tissue exposed to air infected more severe abnormality & death

Hydrocephalus Distal tethering of cord herniation of cerebellum & brain-stem through foramen magnum obstruction to CSF circulation & hydrocephalusVentricles dilate & skull enlarges by separation of cranial suturesPersistently raised intracranial pressure cerebral atrophy & learning difficulties

lncidence & screeningIsolated laminar defects >5% of lumbar spine x-raysCystic spina bifida rare 2-3/1000 live birthsIf 1 child is affected risk for future siblings significantly

Neural tube defects high levels of AFP in amniotic fluid & serum ANC 15-18th week of pregnancy.Maternal blood testing 15-18 weeks & followed by an amniocentesis if necessaryMid-term high resolution USG 95%Folic acid 400 micrograms/day continuing through the first 12 weeks of pregnancy

ClinicaI featuresEARLY DIAGNOSISSpina bifida occulta enuresis, urinary frequency / intermittent incontinence; weakness, some loss of sensibility in lower limbsPlain x-rays laminar defect & any associated vertebral anomalies; midline ridge of bone bifurcation of cord (diastematomyelia)Intraspinal anomalies MRI

Spina bifida cystica Saccular lesion overlying lumbar spineOpen myelomeningoceles plum coloured skin1/3 infants complete LMN paralysis & loss of sensation & sphincter control below affected levelX-rays & CT extent of bony lesion + other vertebral anomaliesMRI define neurological defects

Clinical features in older childrenClawing toes, change in gait pattern, incontinence / abnormal sensation tethered cord syndromeMRI with gadoliniumNeurosurgical releaseLiable to suffer fractures after minor injuries

TreatmentIntrauterine surgery closure of defectFormal neurological closure demyelination and axonal degenerationThe onset is insidiousCondition often goes undiagnosed until patients start complaining of numbness and paraesthesiae in the feet and lower legsComplications: neuropathic ulcers of the feet, regional osteoporosis, insufciency fractures of the foot bones, or Charcot joints in the ankles and feetTreatment:skin care, management of fractures and splintage or arthrodesis of grossly unstable or deformed joints

Alcoholic neuropathythe main cause is the accompanying nutritional deciency, especially thiamine deciencySymptoms: burning, paraesthesiae, numbness and muscle weakness in the feet and legsTreatment: nutritional supplementation, administration of thiamine, protection from trauma

INFECTIVE NEUROPATHYcaused by the varicelladormant for many years in the dorsal root ganglia, is then reactivated and migrates down the nerveSymptoms: the patient develops severe unilateral pain in the distribution of several adjacent nerve rootsDays or weeks later an irritating vesicular rash appears; characteristically it trails out along the dermatomes corresponding to affected nerves

Herpes Zoster (shingles)This patient was treated for several weeks for sciatica then the typical rash of shingles appeared

Neuralgic amyotrophy (acute brachial neuritis)unusual cause of severe shoulder girdle pain and weakness is believed to be due to a para-infectious disorder of one or more of the cervical nerve roots and the brachial plexusPain in the shoulder and arm is typically sudden in onset,intense and unabatingOther symptoms are paraesthesiae in the arm or hand and weakness of the muscles of the shoulder, forearm and hand

Winging of the scapula (due to serratus anterior weakness), wasting of the shoulder girdle muscles, and occasionally involvement of more distal arm muscles may be profound, becoming evident as the pain improvesSensory loss and paraesthesiae in one or more of the cervical dermatomes is commonno specic treatment; pain is controlled with analgesics

GuillainBarr syndrome (acute inflammatory demyelinating polyneuropathy AIDP) acute demyelinating motor and sensory (though mainly motor) polyneuropathycan occur at any age and usually appears two or three weeks after an upper respiratory or gastrointestinal infection probably as an autoimmune reaction

Cerebrospinal uid analysis may show a characteristic pattern: elevated protein concentration in the presence of a normal cell countNerve conduction studies may show conduction slowing or block; in severe cases there may be EMG signs of axonal damageTreatment consists essentially of bed rest, pain-relieving medication and supportive management to monitor, prevent and deal with complications such as respiratory failure and difculty with swallowing

LeprosyMycobacterium leprae, causes a diffuse inammatory disorder of the skin, mucous membranes and peripheral nervesIn tuberculoid leprosy, anaesthetic skin patches develop over the extensor surfaces of the limbs; loss of motor function leads to weakness and deformities of the hands and feetTreatment by combined chemotherapy (mainly rifampicin and dapsone) is continued for 6 months to 2 years

PAINPain receptors stimulated by mechanical distortion, by chemical, thermal or electrical irritation, or by ischaemiaMusculoskeletal pain associated with trauma or inammation is due to both tissue distortion and chemical irritation (local release of kinins, prostaglandins and serotonin)Visceral nociceptors respond to stretching and anoxia

Pain perception

Pain transmissiontransmitted via both myelinated axonsFrom the dorsal horn synapses in the cord, some bres participate in ipsilateral reex motor and autonomic activities while others connect with axons in the contralateral spinothalamic tracts that run to the thalamus and cortex

Pain modulation Pain impulses may be suppressed or inhibited by simultaneous sensory impulses travelling via adjacent axons impulses descending from the brainpain impulses are sorted out some of them blocked, some allowed through in the dorsal horn of the cordcertain morphine-like compounds (endorphins and enkephalins), normally elaborated in the brain and spinal cord, can inhibit pain sensibilityPain thresholdNo xed threshold for any individualthreshold is lowered by fear, anxiety, depression, lack of self-esteem and mental or physical fatigueelevated by relaxation, diversion, reduction of anxiety and general psychological support

Acute painSevere acute pain, is accompanied by an autonomic ght or ight reaction:Increased pulse rateperipheral vasoconstrictionSweatingRapid breathingmuscle tensionAnxietyTreatment is directed at: (1) removing or counteracting the painful disorder(2) splinting the painful area(3) making the patient feel comfortable and secure(4) administering analgesics, anti-inammatory drugs or if necessary narcotic preparations(5) alleviating anxiety

Chronic pain occurs in degenerative and arthritic disorders or in malignant disease and is accompanied by vegetative features such as fatigue and depressionTreatment again involves alleviation of the underlying disorder if possible and general analgesic therapyNeed rehabilitation and psychologically support

Complex regional pain syndrome (CRPS)pain out of proportion (in both intensity and duration) to the precipitating cause,vasomotor instability, trophic skin changes, regional osteoporosis and functional impairmentCauses are trauma (often trivial), operation or arthroscopy, a peripheral nerve lesion, myocardial infarction, stroke and hemiplegia

PATHOGENESISsympathetic overactivityAbnormal cytokine release, neurogenic inammation, sympathetic-mediated enhancement of pain responses

CLINICAL FEATURESComplains of burning pain, and sometimes cold intolerance, in the affected area usually the hand or foot, sometimes the knee or hip, and sometimes the shoulder in hemiplegiaLocal redness and warmth, sometimes changing to cyanosis with a blotchy, cold and sweaty skinX-rays are at rst usually normal

Causalgia is a severe form of regional pain, usually seen after a nerve injuryPain is intense, often burning or penetrating and exacerbated by touching, jarring or sometimes even by a loud noise

TREATMENTMild cases often respond to a simple regimen of reassurance, anti-inammatory drugs and physiotherapyAdministration of corticosteroids, calcium channel blockers and tricyclic antidepressantsIf there is no improvement after a few weeks sympathetic blockade often helps

Psychological treatment may help them to deal with the emotional distress and anxiety and to develop better coping strategies

Chronic pain syndromewell-marked features of depression, or complaints of widespread somatic illness (pain in various parts of the body, muscular weakness, paraesthesiae, palpitations and impotence)Treatment is always difcult and should, ideally, be managed by a team that includes a specialist in pain control, a psychotherapist, a rehabilitation specialist and a social workerPain may be alleviated by a variety of measures:(1) analgesics and anti-inammatory drugs;(2) local injections to painful areas;(3) local counter-irritants;(4) acupuncture;(5) transcutaneous nerve stimulation; (6) sympathetic block;(7) surgical interruption of pain pathways

FIBROMYALGIA complain of pain and tenderness in the muscles and other soft tissues around the back of the neck and shoulders and across the lower part of the back and the upper parts of the buttocks


Muscular DystrophiesDuchennes muscular dystrophyLimb girdle dystrophiesFacioscapulohumeral dystrophy

Duchennes muscular dystrophyInheritance with recessive transmissionseen only in boys (or in girls with sex chromosome disorders)

Clinical Appereancedifculty standing and climbing stairs, he cannot run properly and he falls frequentlyWeakness begins in the proximal muscles of the lower limbs and progresses distally, affecting particularly the glutei, the quadriceps and the tibialis anterior, giving rise to a wide-based stance and gait with the feet in equinus, the pelvis tilted forwards, the back arched in lordosis and the neck extended

Characteristic feature is the childs method of rising from the oor by climbing up his own legs (Gowers sign); this is due to weakness of the gluteus maximus and thigh musclesCardiopulmonary failure is the usual cause of death, generally before the age of 30 yearsConrmation is achieved by muscle biopsy and genetic testing with a DNA polymerase chain reaction.

TreatmentWhile the child can still walk -> physiotherapy and splintageCorticosteroids are useful in preserving muscle strengthIf scoliosis is marked (more than 30 degrees), instrumentation and spinal fusion helps to maintain pulmonary function and improves quality of life although not necessarily lifespan


BECKER MUSCULAR DYSTROPHYX-linked recessive disease, is similar to but milder than Duchennes dystrophyDystrophin is decreased and/or abnormal in characterThe muscles of facial expression are not affected and neither are the muscles controlling bowel or bladder function or swallowing

LIMB GIRDLE DYSTROPHYcharacterized by :weakness of the pelvic and shoulder girdle musclesusually start in late adolescencecauses a waddling gait and difculty in rising from a low chairpectoral girdle weakness makes it difcult to raise the arms above the head

TreatmentPhysiotherapySplintage to prevent contractures, operative correction when necessary

FACIOSCAPULOHUMERAL DYSTROPHYautosomal dominant condition with very variable expression muscle weakness is rst seen inthe face (inability to purse the lips or close the eyes tightly) followed by weakness of scapular muscles causing winging of the scapula and difculty with shoulder abductioncondition is due to gene deletion on the long arm of chromosome 4

MYOTONIApersistent muscle contraction after cessation of voluntary effort

Two type:1. DYSTROPHIA MYOTONICA2. MYOTONIA CONGENITA

DYSTROPHIA MYOTONICAautosomal dominant disorder with an incidence of about 1 in 7000muscle stiffness for some yearssystemic features appear diabetes, cataracts and cardiorespiratory problems and by middle age patients are often severely disabledTreatment is essentially palliative but foot deformities may need manipulation and splintage

MYOTONIA CONGENITAinherited by autosomal recessive transmissionappear in childhood and usually progress slowlytypically this is worse after periods of inactivity and is relieved by exercisetriggered by exposure to cold and can cause pain (muscle cramps)There is no specic treatment for this condition. Patients are advised about avoiding aggravating activities.

Education

Neuromuscular disorder