What is Spinal Muscle Atrophy

8/6/2019 What is Spinal Muscle Atrophy

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WHAT IS SPINAL MUSCLEWHAT IS SPINAL MUSCLE

ATROPHY?ATROPHY? SMA is a genetic motor neuron disease caused bySMA is a genetic motor neuron disease caused by

progressive degeneration of motor neurons in the spinalprogressive degeneration of motor neurons in the spinalcord.cord.

The disorder causes weakness and wasting of theThe disorder causes weakness and wasting of thevoluntary muscles.voluntary muscles.

Weakness is often more severe in the legs than in theWeakness is often more severe in the legs than in thearms.arms.

Childhood SMAs are all autosomal recessive diseases.Childhood SMAs are all autosomal recessive diseases.

This means that they run in families and are likely toThis means that they run in families and are likely tooccur in siblings or cousins of the same generation.occur in siblings or cousins of the same generation.

Parents usually have no symptoms, but still carry theParents usually have no symptoms, but still carry thegene.gene.


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The muscles closer to the center of the body (proximal muscles) areThe muscles closer to the center of the body (proximal muscles) are

usually more affected in spinal muscular atrophy than are theusually more affected in spinal muscular atrophy than are the

muscles farther from the center (distal muscles)muscles farther from the center (distal muscles)..


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PATHOLOGY:PATHOLOGY:


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SMA is caused by successive motor unit degeneration.SMA is caused by successive motor unit degeneration. Atrophy of muscles occurs due to progressive loss of theAtrophy of muscles occurs due to progressive loss of the

anterior horn cells in the spinal cord.anterior horn cells in the spinal cord.

The motor nuclei in the lower brainstem, usually those of cranialThe motor nuclei in the lower brainstem, usually those of cranialnerves 5nerves 5--12, may also be involved.12, may also be involved.

Various stages of degeneration can be observed histologically atVarious stages of degeneration can be observed histologically atthese sites.these sites.

The lower limbs usually are affected sooner and moreThe lower limbs usually are affected sooner and moreprofoundly than the upper limbs.profoundly than the upper limbs.

This degeneration usually affects the proximal musculatureThis degeneration usually affects the proximal musculature

before distal.before distal. Unlike in amyotrophic lateral sclerosis (ALS), no corticospinalUnlike in amyotrophic lateral sclerosis (ALS), no corticospinal

tract involvement is seen in SMA.tract involvement is seen in SMA.


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Explain what kind of impairments orExplain what kind of impairments or

disabilities children with this condition maydisabilities children with this condition may

present withpresent with

There are many types of spinal muscular atrophy, each typeThere are many types of spinal muscular atrophy, each typehaving its own impairments or disabilities.having its own impairments or disabilities.

SMA type one, also called WerdnigSMA type one, also called Werdnig--Hoffmann disease. This typeHoffmann disease. This typeoccurs before birth or within the first few months of life. Thereoccurs before birth or within the first few months of life. Theremay be a reduction in fetal movement in the final months ofmay be a reduction in fetal movement in the final months ofpregnancy. Babies present with floppiness of the limbs andpregnancy. Babies present with floppiness of the limbs andtrunk, weak movements of the arms and legs, swallowing andtrunk, weak movements of the arms and legs, swallowing andfeeding difficulties and impaired breathing. Affected babies neverfeeding difficulties and impaired breathing. Affected babies neversit or stand and usually die before the age of two.sit or stand and usually die before the age of two.


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SMA type twoSMA type two

This type usually begins between three andThis type usually begins between three and

fifteen months of age. Children may havefifteen months of age. Children may haverespiratory problems, floppy limbs, decreasedrespiratory problems, floppy limbs, decreasedor absent deep tendon reflexes and twitchingor absent deep tendon reflexes and twitchingof the arm, leg or tongue muscles. Theseof the arm, leg or tongue muscles. Thesechildren may learn to sit but will never be ablechildren may learn to sit but will never be ableto stand or walk.to stand or walk.

SMA type three, also calledSMA type three, also called KugelbergKugelberg--WelanderWelander disease. This type appearsdisease. This type appearsbetween two and seventeen years of age andbetween two and seventeen years of age and

includes abnormal manner of walking,includes abnormal manner of walking,difficulty running, climbing steps, rising fromdifficulty running, climbing steps, rising froma chair and slight tremors of the fingers.a chair and slight tremors of the fingers.


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Kennedy syndrome or progressive muscular atrophy may occurKennedy syndrome or progressive muscular atrophy may occurbetween fifteen and sixty years of age. Features of this type maybetween fifteen and sixty years of age. Features of this type mayinclude weakness of muscles in the tongue and face, difficultyinclude weakness of muscles in the tongue and face, difficulty

swallowing, speech impairment and excessive development ofswallowing, speech impairment and excessive development ofmammary gland in males.mammary gland in males.

Congenital SMA with arthrogryposis (persistent contractures ofCongenital SMA with arthrogryposis (persistent contractures ofjoints with fixed abnormal postures of the limbs). It is a rarejoints with fixed abnormal postures of the limbs). It is a raredisorder. Manifestations include severe contractures, curvaturedisorder. Manifestations include severe contractures, curvatureof the spine, chest deformities, respiratory problems, anof the spine, chest deformities, respiratory problems, anunusually small jaw and drooping upper eyelids.unusually small jaw and drooping upper eyelids.


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The Holistic MultiThe Holistic Multi-- DisciplinaryDisciplinary

ManagementManagement Effective management of a child with Spinal Muscular AtrophyEffective management of a child with Spinal Muscular Atrophy

(SMA) requires coordination of several medical specialists.(SMA) requires coordination of several medical specialists.

To be effective, the team needs excellent channels ofTo be effective, the team needs excellent channels ofcommunication in order to provide a single point of contactcommunication in order to provide a single point of contactthrough which all the care needs of the individual can bethrough which all the care needs of the individual can bechannelled.channelled.

The main roles of the various contributors to the team are selfThe main roles of the various contributors to the team are self --evident, however it is vital that each team member is aware of allevident, however it is vital that each team member is aware of all

the issues that affect each patient. For this reason regular teamthe issues that affect each patient. For this reason regular teammeetings, with team demeetings, with team de--briefing sessions and clinical roundsbriefing sessions and clinical roundsare very important.are very important.


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The MultiThe Multi-- Disciplinary Team would consist of experts in:Disciplinary Team would consist of experts in: NeurologyNeurology

GastroenterologyGastroenterology

OrthopaedicsOrthopaedics

PhysiotherapyPhysiotherapy

Occupational TherapyOccupational Therapy

Social WorkSocial Work

PsychologyPsychology

NursingNursing As well as theAs well as the Family PhysicianFamily Physician, to address individual health, to address individual health--

status and SMA related issues of the child, and provide supportstatus and SMA related issues of the child, and provide supportand counselling to the family.and counselling to the family.


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SPECIFIC PHYSIOTHERAPY MANAGEMENTSPECIFIC PHYSIOTHERAPY MANAGEMENT

FOR SPINAL MUSCULAR ATROPHY!FOR SPINAL MUSCULAR ATROPHY!

Most care for the patient is focused on symptomatic control andMost care for the patient is focused on symptomatic control andpreventative rehabilitation, as there is no cure for it.preventative rehabilitation, as there is no cure for it.

Firstly very important is to maintain the patients joint mobility.Firstly very important is to maintain the patients joint mobility.This can be done by active movements. The point of doing thisThis can be done by active movements. The point of doing this

is to prevent contractures which in most cases occur in theis to prevent contractures which in most cases occur in theplantar flexors of the foot.plantar flexors of the foot. Making sure you do the upper and lower limbs.Making sure you do the upper and lower limbs. Upper limbs:Upper limbs:

Scapula elevation, depression, protraction retraction.Scapula elevation, depression, protraction retraction.

Abduction, adduction, flexion and extension of the shoulder.Abduction, adduction, flexion and extension of the shoulder. Elbow flexion, extension, supination and pronation,Elbow flexion, extension, supination and pronation, Wrist flexion, extension, radial deviation and ulnar deviation.Wrist flexion, extension, radial deviation and ulnar deviation.


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Lower limbs:Lower limbs:

Hip flexion, extension, abduction and adduction.Hip flexion, extension, abduction and adduction.

Knee flexion and extension.Knee flexion and extension. Ankle plantar flexion, dorsiflexion, inversion and evertion.Ankle plantar flexion, dorsiflexion, inversion and evertion. Stretching and strength training should be done as well.Stretching and strength training should be done as well.

Stretching of all the muscles should be done first before anyStretching of all the muscles should be done first before anytraining is done. First get a baseline of what the patient can andtraining is done. First get a baseline of what the patient can and

cant do. This way you will have a baseline to build on.E

xercisescant do. This way you will have a baseline to build on.E

xercisesshould be done daily for an hour or hour and a half, for at least 4should be done daily for an hour or hour and a half, for at least 4times a weak.times a weak.

Aquatic therapy is an excellent way to maintain mobility,Aquatic therapy is an excellent way to maintain mobility,strength, and flexibility. Once again do not over do your patientstrength, and flexibility. Once again do not over do your patientand get a baseline for what the patient can do.and get a baseline for what the patient can do.

Respiratory function could also be a big factor. So try and teachRespiratory function could also be a big factor. So try and teachpatient breathing exercises, eg deep breathing and diaphragmaticpatient breathing exercises, eg deep breathing and diaphragmaticbreathing. Teach patient placing as well, to maximise thebreathing. Teach patient placing as well, to maximise thedrainage of the lungs. This will keep the lungs clear of secretionsdrainage of the lungs. This will keep the lungs clear of secretionsthat could hamper his breathing.that could hamper his breathing.


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REFERENCESREFERENCES

Web SitesWeb Sites

Families of Spinal Muscular Atrophy (SMA)Families of Spinal Muscular Atrophy (SMA)

The Australian Muscular Dystrophy Association Web SiteThe Australian Muscular Dystrophy Association Web Site

The Jennifer Trust for Spinal Muscular AtrophyThe Jennifer Trust for Spinal Muscular Atrophy -- UKUK

Fight SMAFight SMA

SMA NetSMA Net

The Muscular Dystrophy Association of Canada Web SiteThe Muscular Dystrophy Association of Canada Web Site Muscular Dystrophy Association of the USAMuscular Dystrophy Association of the USA

The International Spinal Muscular Atrophy Patient RegistryThe International Spinal Muscular Atrophy Patient Registry


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BOOKS:BOOKS:

1.1. More Than a ConquerorMore Than a Conqueror by Howard Bell (by Howard Bell (PaperbackPaperback-- JanJanweeksweeksBooks:Books:

2.2.The Official Parent's Sourcebook on Spinal MuscularThe Official Parent's Sourcebook on Spinal MuscularAtrophy: A Revised and Updated Directory for the InternetAtrophy: A Revised and Updated Directory for the InternetAgeAge by Icon Health Publicat (by Icon Health Publicat (PaperbackPaperback-- 18 Nov18 Nov

3.3. Progressive Spinal Muscular (The International ReviewProgressive Spinal Muscular (The International Reviewof Child Neurology)of Child Neurology) by Gamstrop/Sarnat (by Gamstrop/Sarnat (HardcoverHardcover -- 11

April 1984)April 1984) ::

4.4.The Me in the MirrorThe Me in the Mirror by Connie Panzarino (by Connie Panzarino (PaperbackPaperback--May 1994)May 1994)


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5.5. Current Concepts in Childhood Spinal MuscularCurrent Concepts in Childhood Spinal MuscularAtrophyAtrophy by L. Merlini, C. Granata, and V. Dubowitzby L. Merlini, C. Granata, and V. Dubowitz((HardcoverHardcover -- Jun 1989)Jun 1989)

6.6. Living with Spinal Muscular Atrophy: The TrueLiving with Spinal Muscular Atrophy: The TrueStory of Kassidy Jade SearsStory of Kassidy Jade Sears by Trina Allenby Trina Allen((PaperbackPaperback-- 28 Sep 2006)28 Sep 2006)

7.7. Current Concepts in Childhood Spinal MuscularCurrent Concepts in Childhood Spinal Muscular

AtrophyAtrophy by Victor Dubowitz (by Victor Dubowitz (HardcoverHardcover -- May 1989)May 1989)


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THE ENDTHE END

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What is Spinal Muscle Atrophy