Rev Neurocienc 2008;16/3:original194 194-203Severity and
Functional Ability Scale for Amyotrophic Lateral Sclerosis
patients: preliminary resultsEscala de Gravidade e Habilidade
Funcional para pacientes com Esclerose Lateral Amiotrfca:
Resultados PreliminaresMarco Orsini1, Marcos RG de Freitas2,
Osvaldo JM Nascimento3, Mariana Pimentel de Mello4, Clayton Amaral
Domingues5, Jos Mauro Brs Lima6, Marli Pernes6, Cludio Heitor
Gress6, Acary Souza Bulle Oliveira7, Carlos Henrique Melo Reis8,
Wandilson Jnior8, Giseli Quintanilha8, Eduardo B Cavalcanti9,
Luciane Bizari Coin de Carvalho10Recebido em: 01/08/08Revisado em:
02/08/08 a 03/09/08Aceito em: 04/09/08Confito de interesses:
noNeuromuscular Disease Outpatient Division, Federal Fluminense
University UFF, Antnio Pedro University Hospital HUAP.Physical
Therapist, Chair ofthe Neurological Rehabilitation, Escola Superior
de Ensino Helena Antipoff(ESEHA) and Neuroscience Researcher at
UFF.Neurologist, Chair ofthe Neurology Department and Head
ofClinical Neurology Staff, UFF.Neurologist, MD, PhD, Chair ofthe
Neurology Department, UFF. Physical therapist, Department
ofNeuroscience, UFF.Neuropsychiatry Institute, Instituto de
Psiquiatria da Universidade do Brasil, UFRJ.Neurolgist, Neurology
Department, Deolindo Couto Neurology Institute, UFRJ.MD, PhD,
Neurologist, Department ofNeurology, Unifesp.Neurologist, Neurology
Department, UFF.Medical Student, UFF.PhD, Psychologist, Neuro-Sono,
Department ofNeurology, Universidade Federal de So
Paulo.1.2.3.4.5.6.7.8.9.10.Address for correspondence:Marco
OrsiniR. Prof. Miguel Couto, 322/100124230-240 Niteri, RJPhone (55
21) 8125-7634E-mail: [email protected]. A
esclerose lateral amiotrfca (ELA) uma doena
pro-gressivaefatalqueafetaosneurniosdofeixepiramidaledaponta
anterior da medula espinhal. Inmeras avaliaes tm sido propostas no
sentido de fornecer um melhor acompanhamento dos indivduos e
ge-renciamento das complicaes secundrias. Apresentamos, no presente
estudo,umnovoinstrumentoparaacompanhamentoclnicoereabili-tativodepacientescomELA.Mtodo.Avaliamos96pacientescon-secutivoscomdiagnsticodeELA,noHospitalUniversitrioAntonio
PedroenoInstitutodeNeurologiaDeolindoCoutocomaEscalade Gravidade e
Habilidade Funcional. Resultados. Estes dados prelimi-nares
permitiram delinear uma escala de 5 domnios que mensuram 1)
foramuscularemmitomosespecfcos,2)habilidadesfuncionais,3) deglutio
4) respirao, and 5) estgio de gravidade da doena. As
ca-ractersticas clnicas e manifestaes funcionais dos pacientes com
ELA foramheterogneasemrelaoascomplicaesmaisfreqenteseao nvel de
independncia funcional. Concluso. Estes resultados prelimi-nares
sugerem que nossa escala de 5 domnios simples, de fcil
aplica-bilidade, no demorada, assim como facilmente reprodutvel a
respeito do curso clnico e do prognstico dos pacientes com ELA.
Nosso estudo piloto garante a etapa seguinte de nossa pesquisa que
inclui a exatido, validade interna, a confabilidade, anlise
fatorial e outros procedimen-tos metodolgicos e estatsticos formais
necessrios.Unitermos: Esclerose Lateral Amiotrfca. Escalas. Doenas
Neuromusculares.Citao: Orsini M, de Freitas MRG, Nascimento OJM,
Mello MP, Do-mingues CA, Lima JMB, Pernes M, Gress CH, Oliveira
ABS, Reis CHM,
JniorW,QuintanilhaG,CavalcantiEB,CarvalhoLBC.Escalade Gravidade e
Habilidade Funcional para pacientes com Esclerose Lateral
Amiotrfca: Resultados
Preliminares.SUMMARYIntroduction.Amyotrophiclateralsclerosis(ALS)isaprogressive
and fatal illness that affects the neurons of the pyramidal tracts
and the anterior horn of the spinal cord. Many evaluations methods
have beenproposedinordertosupplybetterfollow-upinformationof
patientsaswellasimprovedmanagementofsecondarycomplica-tions.Wepresent,inthisstudy,anewinstrumentforclinicaland
rehabilitationfollow-upofpatientswithALS.Method.Weevalu-ated 96
consecutive patients with diagnosis of ALS, in the University
Hospital Antonio Pedro and in the Institute of Neurology Deolindo
CoutothroughtheSeverityandFunctionalAbilityScale.Results. This
preliminary data allowed us to delineate a 5 domain scale that
measure 1) muscle strength myotome specifc, 2) functional
abilities, 3) swallowing function, and 4) breathing, and 5) disease
stage
sever-ity.ClinicalfeaturesandfunctionalmanifestationsofALSpatients
wereheterogeneousregardingtothemostfrequentclinicalcompli-cationsandindependencelevels.Conclusion.Thesepreliminary
results suggest that our 5 domain scale is simple, applicable, not
time consuming of, as well as easily reproducible regarding
clinical course and prognosis of patients with ALS. Our pilot study
grants the next step of our research that includes accuracy,
internal validity,
reliabil-ity,factorialanalysisandotherneededformalmethodologicaland
statistical procedures.Keywords:AmyotrophicLateralSclerosis.Scales.
Neuromuscular
Diseases.Citation:OrsiniM,deFreitasMRG,NascimentoOJM,MelloMP,
Domingues CA, Lima JMB, Pernes M, Gress CH, Oliveira ABS, Reis
CHM,JniorW,QuintanilhaG,CavalcantiEB,CarvalhoLBC.Se-verityandFunctionalAbilityScaleforAmyotrophicLateralSclerosis
patients: preliminary results.originalRev Neurocienc 2008;16/3: 195
194-203INTRODUCTIONAmyotrophic lateral sclerosis (ALS), known in UK
as motor neuron disease, is a devastating illness for patients,
relatives, and caregivers. It is a progres-sive disorder that
involves degeneration ofthe motor system at all levels1.At present,
the use and the value ofstandard-ized scales in the evaluation and
follow up ofpatients
withdefciencies/incapacitiescausedbyneurologi-calillnessesisconsensusamongmedicalsocieties
and rehabilitation services. Health professionals have sought to
systematically evaluate some aspects ofthe healthof
theirpatientsinordertodefnespecifc goalsof
treatmentandtoimplementmoreeffec-tive interventions. So, they have
been introduced to the practical concept ofscales, with the
consequent abandonmentof subjectiveevaluations,susceptible to
individual parameters ofjudgment allowing con-tradictory
results2.Withtheconstantlyincreasingavailabilityofresearch on new
therapeutic possibilities for ALS, it has become evident that
traditional evaluation would be insuffcient to detect some
alterations that future proposalsof
treatment(medicalandrehabilitation) could bring for these patients.
The great diffculty, at this moment, is the use ofan instrument
that would allowobjectiveevaluationof theneurologicaldef-cit, the
level offunctional independence and, mainly, that could be applied
to such patients in specifc peri-ods oftheir disease activity3.Many
scales had been formulated, beginning withthevoluntaryevaluationof
muscularstrength andindicatorsof functionalevaluationuptotissue
samplingsof affectedareasof thenervoussystem.
Besidesprogresshasbeenmade,noindicatorpro-posedatthistimewasabletomeetthecriteriaofbiological
signifcance, sensibility to the progression ofthe illness, clear
relation with the general prognos-tic and survival, as well as easy
and friendly measure-ment approach4.The main goal ofthe scales in
neuromuscular diseases, as in ALS, is to evaluate objectively the
rel-evant results ofthe illness and, at the same time, to recognize
or to control the defciencies/incapacities of
thepatients.Theconceptsof validity,effciency, sensitivity, and
specifcity are essential to fnd an
ad-equateinstrument5.Inthisway,thisstudypresents the partial
results ofthe application ofa new clinical and functional
instrument for patients with ALS, ex-tracted after cross-section
analysis of40 individuals.METHODWe evaluated a total of96 patients
with diag-nosisof ALS,50registeredattheNeurologyOut-come Sector
ofthe University Hospital Antonio Pe-dro (HUAP), Fluminense Federal
University UFF, and 46 at the Institute ofNeurology Deolindo Couto
(INDC), Federal University ofRio de Janeiro (UFRJ).
Thepatientswereseenconsecutivelyaccordingto the arrival in the
sector for diagnosis or clinical fol-lowup.Alltheparticipantsof
thestudysignedthe Consent Form before the scale application. The
Re-search Ethic Committee ofthe Fluminense Federal University
approved the study (#138309).As inclusion criteria, the patients
had to have a defnite diagnosis ofALS, or a probable diagnosis with
or without laboratory support according to cri-teria ofthe World
Federation ofNeurology, revised
intheyear2000(ElEscorial)andarangebetween 3085 years. Fifty six
patients who had presented at least one ofthe following items were
excluded from the study: (1) electroneuromyography demonstrating
either motor or sensitivity conduction block; (2) pa-tients with
emotional lability or depression that would eventually preclude
follow-up; (3) patients with pain,
muscularcontractionsorassociatedproblemsthat prevented them from
going through with the manual muscular test on the date
ofapplication ofthe scale;
(4)patientswithspasticitygreaterorequalto2on the Modifed Ashworth
Scale6; (5) patients with as-sociated
illnesses.AssessmentOneprofessional(MAO)appliedthescalein the 40
included patients, 25 men (31 to 68 years) and 15 women (32 to 67
years), in the period from March to September 2007, and the results
were scored after consensus with two other
researchers.Theroomshadbeenprotectedagainstex-ternalnoises,hadsystemsof
adjustedrefrigeration and adequate length for an optimal
evaluation. The evaluations took an average of50 minutes (for each
patient) and in accordance with the necessity ofthe individuals,
pauses had been supplied.Alltheparticipantshadhandbooksfrom HUAP
and INDC with complete information
relat-edtoclinicalandevolutiveinformationsaboutthe illness,
properly written, in clear and accurate form, dated and signed by
each hospitals staff. The hand-books were up to date and the
necessary minimum informationconsistedof:identifcationof
thepa-tient, clinical description, fnding on complementary Rev
Neurocienc 2008;16/3:original196 194-203exams, fndings after
application ofthe EL Escorial criteria7, description ofthe clinical
and laboratorial fndings that had allowed the diagnosis ofthe
illness, as well as reports ofpatients follow-up. The disease
classifcationof
theInternationalClassifcationofDiseases(ICD-10)wasalsoincludedinthehand-books.
The purpose ofthe instrument was to
objec-tivelymeasurethefunctionalaspects,themuscular
strength,andthespeechandrespiratoryfunctions of
patientswithALS(Annex1).Thefrststageset
outtoevaluatethestrengthinselectedmyotomes.
Forsuch,onekeymuscleforeachspinalsegment
wasestablished:C5bicepsbrachii;C6exten-sor carpi radialis; C7
triceps; C8 fngers fexors; T1 dorsal and palmar interosseous; L2
iliopsoas; L3quadricepsfemoris;L4tibialisanterior;L5 extensor
hallucis longus; S1 ankle plantar fexors. Such muscles had been
evaluated in accordance with thecriteriaof
theMedicalResearchCouncil8.As there is 10 myotomes evaluated in
each halfofthe body and the maximum punctuation for each one ofthem
is 5, the maximum fnal score possible was 100 (hundred) points and
the minimum 0 (zero).The second part ofthe scale makes reference
tothefunctionalabilities.Itconsistsof 10items:
feeding,dressing,activitiesthatrequiredexterity, and fne movements,
hygiene, to rise from a chair, to carry through activities (work/
social), to ramble or to touch the wheel-chair, carry out changes
ofposi-tion and transfer, carry out functional activities in the
erect position; to go up and go down the stairs. Each
itemwasevaluatedwithscore:0(zero)incapable ofperforming the
activity; 5 (fve) capacity
ofper-formtheactivity,withcertaindiffculty,beingable torefersignsof
muscularweaknessandabnormal fatigue;10(ten)capacityof
carryingthroughthe activityindependently.Themaximumpunctuation isof
100(onehundred)pointsandtheminimum
0(zero)points.Dependingonthescore,theindi-viduals were classifed
into the following categories: complete dependence (0 points);
serious dependence (525 points); moderate dependence (3060 points);
mild dependence (6595 points); and independence (100
points).Thethirdpartof
theexaminationwasdes-tinedtoevaluateswallowing.Patientswhopossess
normalalimentaryhabitsreceivethemaximum scoreof 100.Problemsof
feedingassociatedwith eventualchokings,changesinthefoodconsistency
(relatedtoswallowingproblems),andthenecessity ofassistance for
feeding, received a score of75, 50 and 25 points, respectively. A
complete dependency requiring enteral or parenteral nutrition was
equiva-lent to 0 (zero).Thefourthpartisrelatedtotherespiratory
function ofthe patients, being divided in 5 subitems. A score of100
(one hundred) points signifed com-plete ventilatory independence
and therefore normal respiratory function. The score goes from 75
to 25, and the patients can present alterations in the
respi-ratoryfunctionvaryinganywherefromtheuseofaccessory muscles to
the need ofpartial ventilatory support. In the last stage, score 0
(zero), the patient is completely dependent on ventilatory
support.Finally, the patient was further classifed on a
scalefrom0to400points,intospecifccategories ofdisease
activity/intensity. Stage 5: Terminal phase of
ALS(maximumscoreobtainedinall4itemsofevaluation were equal or less
than 80 ofthe total of400 points); Stage 4: Serious Dependence
(maximum score obtained in all 4 items ofevaluation between 81 and
160 points ofthe total of400); Stage 3:
Mod-erateDependence(maximumscoreobtainedinall 4 items ofevaluation
from 161 to 240 points ofthe total of400); Stage 2: Mild Dependence
(maximum score gotten in the 4 items ofevaluation from 241 to 320
points ofthe total of400); Stage 1: Initial phase of
ALS(maximumscoreobtainedinall4items of evaluationhigherthan321of
thetotalof 400). Theresultof thetotalof thefouritems(muscular
strength, functional abilities, swallowing and breath-ing) defned
the stage ofthe illness and supplied an overallviewof
themainfunctionsaffectedbythe illness.Statistics analysisThe model
ofthe study was cross-section. The
quantitativeanalyseshadbeencarriedoutthrough
softwareSPSS,widelyusedintheelaborationofdescriptivestatisticsof
thedataandmodeling.The study sought descriptive statistics ofthe
motor func-tion, the functional abilities, and vital functions and
the reliability ofthe scale in the identifcation ofthe intensity
ofthe illness and its consequences on spe-cifc functions ofdaily
life.RESULTSThe patients, at the moment ofthe diagnosis, had age
ranged from 31 to 68 years. The average time elapsed between the
frst manifestations ofthe disease andfnalconfrmationof
theclinicaldiagnosisofALS was 10 months, 17.5% had received the
disease originalRev Neurocienc 2008;16/3: 197
194-203confrmationlessthan5monthsafterthebeginning ofthe frst
symptoms, 35% between 5 and 10 months,
22.5%between10and15months,and25%more than 15 months after the frst
manifestations.The majority ofour patients (97%) made use of
theRilutek,someassociateditwithotherdrugs
and/orvitaminsupplements.Manypatientsalso make use ofvitamin E
(61.76%) and natural supple-ments (14.71%). Other medicaments and
rehabilita-tive therapies had been also used (29.41%).In our study,
47.5% ofthe individuals related theonsetof
theillnessinlowerlimbsand42.5%in the upper limbs. The remaining
pointed beginning ofthe illness in speech. Complaints related with
not-ex-plained stumbling, frequent falls and compromise
ofthedexterityinthehandswerethemorerelatedby oursample.Of
thetotalof 40studiedpatients,12
presentedsimilarcharacteristicstotheman-in-the-barrel syndrome. The
distribution ofmuscular weak-ness in determined myotomes is
presented in Table
1.Thepatientspresentedagreatnumberoffunctionaldamagesinbasicandessentialdailylife
activities, 63% out ofthe patients did not carry out
activitiesrelatedtoworkorsocialdomain;35%
neededsupportiveequipment(wheel-chair);53% were unable to overcome
obstacles during gait; 30%
weretotallydependentinchangingbodyposition and transferences (Table
2).Of thetotalof
ourpatients,10%hadpre-sentedsymptomsrelatedtotheinvolvementof the
motorneuronsof thebrainstem,beginningwith speech changes
(articulation, tone and intensity). Ofthe total, 57.5% presented
problems related to swal-lowing;27.5%presentingproblemsinthefeeding
witheventualchoking,and30.0%alreadyneeding
changesinthefoodconsistency,hadthediffculties in the chewing and
bronchoaspiration (Table 3).In our study, 62.5% ofthe patients had
respi-ratory disturbances. Ofthese 45% present dyspnea to the great
and/or medium efforts with/without in-creaseof
therespiratoryfrequencyanduseof the accessorymuscles.17.5%of
oursamplealready needsperiodsof non-invasiveventilationand/or
oxygen support, relating dyspnea to the small efforts and even to
the rest, with increase ofthe respiratory frequency and use
ofaccessory muscles (Table 4).The total score, with all parts ofthe
scale, we classifed the patients according to the stage
ofevolu-tion ofthe ALS, showing that most ofpatients were in mild
dependence and initial phase (Table
5).DISCUSSIONInthisregard,ourdataisinkeepingwith
previousstudyresults,whichhaveshownaslight predominanceof
ALSinmen9.Morerecentstud-ies, however, show that both genders are
equally af-fected10. An increase in the number ofwomen with the
illness canbe related to improved identifcation ofthe at-risk
population when compared to previous
studies,beingrecentlyexposedtoanunidentifed
environmentalagent,and/orchangesinpatients lifestyle, with patients
becoming more vulnerable to
potentialtoxins(smoke,amongotheroccupational hazards). New research
has found a statistically sig-nifcant association between gender
and the survival ofpatients with ALS11, and the results have
demon-stratedthatmenpossessamoreprolongedsurvival when compared to
women.Table 1. Distribution ofthe patients regarding muscular
weakness in myotomes.Key muscle for each spinal segment*Criteria
ofthe Medical Research Council0 1 2 3 4 5L R L R L R L R L R L RC5
biceps brachii 2 2 5 4 6 5 6 6 12 12 9 11C6 extensor carpi radialis
4 3 6 4 8 7 9 11 10 9 3 6C7 triceps 5 2 2 3 6 5 8 9 8 9 11 12C8
fngers fexors 2 3 7 3 6 3 6 11 10 8 9 12T1 dorsal and palmar
interosseous 10 7 6 5 6 5 6 9 5 8 7 6L2 iliopsoas 6 5 5 5 5 4 8 12
11 9 5 5L3 quadriceps femoris 4 3 4 3 2 7 6 4 14 18 10 5L4 tibialis
anterior 8 9 9 6 2 5 5 5 9 7 7 8L5 extensor hallucis longus 13 13 4
6 2 1 4 2 10 12 7 6S1 ankle plantar fexors 8 6 4 7 3 5 5 4 3 5 17
13* Such muscles had been evaluated in accordance with the criteria
ofthe Medical Research Council 10. L = left; R = right.Rev
Neurocienc 2008;16/3:original198 194-203Thepeakageof
ALSonsetisfrom55to75 years.Recently,amodestincreaseinincidencehas
been noted, along with a tendency for the condition to present at
younger ages12. The patients ofthe present study, at the moment
ofthe diagnosis, had age from 31 to 68 years. The factor age is
identifed as a strong and reliable predictor in the prognosis
ofpatients with ALS9. Younger individuals (up to 40 years), at the
mo-ment ofthe diagnosis and/or at the moment ofthe frst symptoms,
had a more favorable prognostic when compared to the older
subjects, with age from 40 to 70 years. In the youngest group, 60%
survived at least 5 years, whereas only 8% ofthe eldest patients
reached
thisendpoint.Themechanismunderlyingthisphe-nomenonisunknown.Youngerpatientsmaycom-pensate
better for declining motor function and older
patientsmayhavefewermotorneuronstocompen-sate.Butsuchexplanationsprovidelittleinsightsas
to the mechanisms involved. Other studies have also
foundstatistically signifcant results when associating the age to
the prognostic
ofALS13.Inourstudy,theaveragetimeelapsedbe-tweenthefrstmanifestationsof
thediseaseand fnalconfrmationof theclinicaldiagnosisof ALS was 10
months, such a factor, according to some re-searches, serves as an
excellent prognosis marker for these patients14. This delay was
negatively related to hazard,i.e.,positivelyrelatedtolengthof
survival, the longer the delay the longer the survival9. These
resultssuggestthatfastprogressingpatientstendto seek medical care
earlier, whereas those with slower disease progression are referred
later on or adapt to the frst symptoms for a longer time before
they visit a tertiary care facility. Patients with higher economic
andeducationlevellookforhealthservicesearlier than individuals
oflower social classes15.Manycausalandpathogenichypothesesfor
ALShavebeenproposedovertheyears,ranging from heavy metal toxic
effects to environmental and
occupationalexposures.Morerecentstudiesfocus largely on
excitotoxicity and oxidant stress. The
ex-citotoxichypothesishasledtotheidentifcationofRiluzole,aglutamate-releaseinhibitor,asthefrst
licenseddisease-modifyingtreatmentforALS16. The majority ofour
patients (97%) made use ofthe Rilutek, some associated it with
other drugs and/or vitamin supplements. In individuals with ALS
reha-bilitationismainlydesignedtopreventfatigueand contracture, to
improve independence and activities for as long as possible, to
optimize ability to live with the handicap, and fnally to maximize
quality oflife. Thefunctionalimpairmentmustbedefnedand
physicaltherapytechniqueshavetobeadaptedto
eachpatientandreevaluatedfrequentlyduringthe course ofthe
disease17. Strengthening or endurance exercises are controversial
as exercise may injure re-maining muscle fbers and motor neurons.
Isometric exercise,shortof fatigue,of unaffectedmusclesis
recommended.Rangeof
motionexerciseiscriticallyimpor-tantforpreventingcontraction.Assistiveandad-aptative
equipments are essential for maintaining the patientsactivitiesof
dailylivingandhomeequip-mentpreservesindependence.Severalorthosesfor
hand, arm, foot or cervical weakness are available. A
wheelchairisanimportantadaptativedevicewhen
walkingbecomestoofatiguingorimpossible.The
choiceforspecialoptionsandfeaturesmayrequire
attention.Pulmonarycomplicationsareprevented with adapted
techniques for bronchic obstruction18.Some patients ofthe present
study presented
withclinicalacute,reactivedepressionafterthedi-agnosis had made
necessary psychological
accompa-niment.Clinicallysignifcantdepressionshouldbe sought and
treated regardless ofthe stage. Selective
serotoninreuptakeinhibitorsaremostfrequently Table 2. Distribution
ofthe patients regarding functional abilities.Functional
AbilitiesScale0 5 10Feeding12 17 11Dressing 16 14 10Activities that
require dexterity and fne movements 11 20 9Hygiene 12 13 15To rise
from a chair 15 10 15To carry through activities (work/ social) 25
11 4To ramble or to touch the wheel-chair 14 12 14Carry out changes
ofposition and transfer 12 16 12Carry out functional activities in
the erect position 17 11 12To go up and go down the stairs 21 10 90
= incaple; 5 = with diffculty; 10 = independentTable 3.
Distribution ofthe patients regarding swallowing
evaluation.Criteria N ScoreNormal alimentary habits 16 100Problems
offeeding, eventual chokings 12
75Changesinthefoodconsistency(provokedfor diffculty in
swallowing)11 50Necessity ofsounding lead for feeding 0 25Necessity
ofenteral or parenteral nutrition complete dependence1 0100 =
independence; 75 = choking; 50 = diffculty ofswallowing; 25 = help
for feeding; 0 = complete dependenceoriginalRev Neurocienc
2008;16/3: 199 194-203used;however,amitriptylinehasitsadvantagesin
ALS because this drug may exert favorable effects on other symptoms
such as drooling, emotional lability, and sleep disturbances19.The
first part The strength in selected myotomesMotor unit enlargement
by sprouting is an im-portantcompensatorymechanismforlossof
func-tionalmotorunitsduringneuromusculardiseases.
PerisynapticSchwanncellsatneuromuscularjunc-tionsextendbranchingsthatbridgebetweendener-vatedandreinnervatedendplates,andguideaxonal
sprouts to reinnervate the denervated endplates. The progression is
accelerated in motoneuron disease, pro-gressing more rapidly in the
post-polio syndrome after prolonged denervation and extremely fast
in ALS20.In most cases, the patients perceived the onset as
weakness in a distal part ofone limb. The major-ityof
thepatientsrelatethattheillnessbeganwith slips, inexplicable falls
or problems in activities that
demandeddexterity.Thediseasebeginswithequal
frequencyinupperandlowerlimbs(30to40%ofcaseseach)andtheclinicalpicturedependsonthe
area ofthe nervous system that is damaged21. In our study, 47.5%
ofthe individuals related the onset
oftheillnessinlowerlimbsand42.5%intheupper limbs. The muscles ofthe
upper arm and shoulder girdles were typically involved later. When
an arm is the frst limb affected, all this occurs while the thigh
andlegmusclesseemrelativelynormal,andthere
maycomeatimeinsomecaseswhenthepatient
walksaboutwithuseless,danglingarmsandmim-icking the
man-in-the-barrel syndrome22.Ofthe total of40 studied patients, 12
present-edsimilarcharacteristicstotheMan-in-the-barrel
Syndrome.Latertheatrophicweaknessspreadsto the neck, tongue,
pharyngeal, and laryngeal muscles, and eventually those in the
trunk and lower extremi-ties yield to the onslaught ofthe
disease.The use ofthe manual muscle testing (MMT) when compared to
the maximal voluntary isometric
contraction(MVIC)istherecommendedoptionin
patientswithALS.ReproducibilitybetweenMVIC and MMT are equivalent.
However, sensitivity to
de-tectprogressiveweaknessovertimefavoredMMT, an effect largely
accounted for by the muscles sam-pled. MMT was found to be the
preferred measure ofglobal strength because ofits better Pearson
cor-relation coeffcients, essentially equivalent reproduc-ibility,
and more favorable coeffcient ofvariation23. We opted for the
utilization ofthe scale established
bytheMedicalResearchCouncilforthejustifca-tions pointed above.Over
the last decade, motor unit number stim-ulation (MUNE) methods have
been applied with in-creasing frequency to the study ofALS. MUNE is
the ideal tool for the assessment ofdiseases in which the primary
defect is motor unit loss, as it enables quan-tizationandtrackingof
motorunitnumberswhile simultaneouslygaugingcountervailingcollateral
reinervation.Thesepropertiesmakeitparticularity useful for
assessing the effects ofboth neuroprotec-tive therapies and
therapies designed to enhance
col-lateralreinervation,notonlyinanimalmodelsbut also in the living
patient24. More recent efforts have
incorporatedMUNEintoongoing,multi-center
clinicaltrialsasaputativeearlybiologicalmarker, with encouraging
results25.Table 4. Distribution ofthe patients regarding
breathing.Criteria N ScorePatient without necessity ofventilatory
support. Normal respitatory function 15 100Patient presenting
dyspnea to the great and/or medium efforts with/without increase
ofthe respiratory frequency and use ofthe accessory muscles. Not
needing support ofoxygen and/or non invasive ventilation18
75Patient needing periods ofnot invasive ventilation and/or support
ofoxygen. Already relates dyspnea to the small efforts or the rest,
increase ofthe respiratory frequency and use ofthe accessory
muscles.7 50Patient partially dependent on mechanical ventilation
(support mode). Receives a pressure from support to assist its
ventilation. 0 25Patient dependent on mechanical ventilation
(Assst/ Control or controlled mode) 0 0100 = independence; 2575 =
respiratory disorders; 0 = dependent on ventilatory support.Table
5. Classifcation ofthe patient into specifc categories
ofdisease.Stage Score (points) NStage 5 Terminal phase ofALS 080
1Stage 4 Level ofSerious Dependence 81160 5Stage 3 Level ofModerate
Dependence 161240 7Stage 2 Level ofMild Dependence 241320 16Stage 1
Initial phase ofALS 321400 11Rev Neurocienc 2008;16/3:original200
194-203The second part The functional abilitiesKnowing the
presentation ofthe patients with ALS in terms offunctional
dependence allows the
re-habilitationservicestobestructuredastotakemeet thedemandsof
thispopulationinamoreeffcient manner. Changes in home environment
also are nec-essary26. The patients ofthis study presented
countless functional damages in basic and essential daily life
ac-tivities. 63% out ofthe patients did not carry out ac-tivities
related to work or social activities; 35% needed supportive
equipment (wheel-chair); 53% were unable
toovercomeobstaclesduringgait;30%weretotally
dependentinchangingdecubitusandtransfers.We must presume that such
motor disabilities are directly
relatedtocorrespondingmyotomesaffectedand,
thereforepointstoamassivedestructionof thecells ofthe anterior horn
ofthe spinal cord.The third part The swallowing functionBulbar
symptoms are the initial manifestations in 19% to 25% percent ofALS
cases21. Ofthe total ofour patients, 10% had presented symptoms
relat-edtotheinvolvementof themotorneuronsof the
brainstem,beginningwithspeechchanges(articu-lation,tone,andintensity).Swallowingandspeech
disordersarethedramaticconsequencesof bulbar
andpseudo-bulbarsyndromeinALS.Controlofdysphagia requires an
adjustment in diet consistency.
Specifcswallowingtechniquescanhelptoprevent aspiration26. When oral
food intake becomes intoler-ablebecauseof
choking,percutaneousendoscopic
gastrostomyshouldbeundertaken27.Dysarthria canleadtocompletelossof
oralcommunication. Speechtherapyishelpfulinitiallyif progressionis
slow. Modern computer technology can enable even quadriplegic
patients to communicate effectively28.Discussion ofpercutaneous
endoscopic gastrosto-my tube placement should be initiated early;
placement should be presented as a positive option rather than a
sign offailure. Many patients and families need time to adjust to
this strategy and may be helped by information from
patientgroups/associations.ModernPEGtechniques have low morbidity,
and tubes may be placed while the patient can still swallow, to
enhance nutrition and avoid
exhaustion.Nutritionistsandhomehealthnursescan provide essential
support to families in managing PEG tubes and achieving adequate
nutrition29. Unfortunately, the majority ofthe patients ofthe
present study did not
presentthefnancialconditionsnecessarytomeeting thecostof
acquiringsuchequipmentand/orservices. Counseling was supplied to
patients/familiar members.Most previous studies have reported that
dis-ease onset in the limbs rather than in the bulbar
mus-cleswerepredictiveof longersurvivaltime13.Bul-bar-onset
patients may have shortened survival from earlier involvement
ofrespiratory muscles, a higher rate ofrespiratory complications,
malnutrition, and dehydration. Some patients ofthe present study
had presentedtheDroppedHeadSyndrome,disabling them for a more
formal communicative process and
compromisingthespatialorientation.Pathological
cryingandlaughterwasalsoshowntoaffectout-come. This does not seem
to be due to some primary mood disorder but rather to an abnormal
manifesta-tionof affect,whichcanbeverydisturbingincer-tain social
situations. The symptom responds well to several drugs30.The fourth
part The respiratory functionMany patients have a great fear
ofbeing un-able to breath, particularly at night. Symptoms
usu-allybeginwithnocturnaldyspneaandorthopnea, andsignsof
poornocturnaloxygenation,suchas
morningheadache,frequentwalking,nightmares,
anddaytimesleepiness.Althoughmucolytics,ex-pectorants,theophylline,antibioticsandoxygen
cancontributetorespiratorymanagement,ventila-torysupportshouldbeanticipatedandtheoptions
explored before clinical respiratory failure develops.
Pulmonaryconsultantsandrespiratorytherapists can help patients and
families learn about the many approaches, and the indications for
and implications of eachalternative.Aswithgastrostomy,patients
needtimetoconsidervariousoptionsandrequire
objectiveinformation.Patientassociationsandor-ganizationscanbeveryhelpful.Itisbelievedthat
fewer than 5% ofpatients eventually use long-term ventilatory
support31.Classification of the disease stagesMany evaluations are
proposed for patient fol-low-up in order to analyze the state
ofmotor func-tion and their consequences on activities ofeveryday
life. Few recommendations can be formulated. Scales must be
validaded and be relatively simple to use and generate results for
statistical analysis. The choice ofwhich scale to use depends on
the clinical objective. Global scales can be used to evaluate
progression ofthe disability. Some ofthese scales are strongly
cor-relatedwithpatientsurvival.Otherscalesareused
toclassifypatientsbyhomogeneousstateof sever-ity. The clinician
should be aware ofthese different originalRev Neurocienc 2008;16/3:
201 194-203SEVERITY AND FUNCTIONAL ABILITY SCALE (GFSA)AMYOTROPHIC
LATERAL SCLEROSISIDENTIFICATIONPatient Name:Handbook Number:Gender:
M ( ) F ( )Occupation:Diagnostic Date:Age ofthe time ofthe
diagnosis: ( ) years; Present moment ( ) yearsBegin ofthe frst
symptoms: ( ) Upper Limbs ( ) Lower Limbs ( ) Speech ( )
SwallowingReceived diagnosis from the illness how much time
ofbeginning ofthe frst symptoms ( ) monthsCarries through
rehabilitative treatment: ( ) Y ( ) N How much time: ( )
monthsMedicaments treatment for the illness in question: ( ) Y ( )
NWhich: ( ) Rilutek ( ) Vitamin E ( ) Natural supplements ( )
OthersPART 1 MOTOR ASPECTLevel Key muscleStrength GradeL RC5 Biceps
BrachiiC6 Extensor Carpi RadialisC7 TricepsC8 Fingers FlexorsT1
Dorsal And Palmar InterosseousL2 IliopsoasL3 Quadriceps FemorisL4
Tibialis AnteriorL5 Extensor Hallucis LongusS1 Ankle Plantar
FlexorsLegend for motor evaluation 0 Paralysis (movement absent); 1
Paresis (contraction visible or palpable); 2 Active movement, does
not win the severity; 3 Active movement, against the severity; 4
Active movement against some resistance (outside the severity); 5
Active movement against the ultimate strength ofthe examiner.Total
Score ofMuscle Strength: ( )/100 pointsLeft Upper Limb ( ): total
25 points; Right Upper Limb ( ): total 25 points;Left Lower Limb (
): total 25 points; Right Lower Limb ( ): total 25 points.PART 2
FUNCIONAL ABILITIESFunctional Ability PointsFeedingDressing (upper
and lower limbs)Activities that require dexterity and holdHygieneTo
get up ofa chairTo carry through activities (work/ social) in the
communityTo ramble or to touch the wheel-chairCarry out changes
ofposition and transferencesCarry out functional activities in the
foot positionTo go up and go down the stairsTotal Score
ofFunctional Ability: ( ) / 100 pointsDependence grade: Complete: (
) Modifed Independence ( ) Functional Independence (
)Grade:CompleteDependence:0points;SeriousDependence:525points;MildDependence:3060points;LightDependence:6095points;
Independence: 100 points.Score ofFunctional Ability0 performance
total compromised (incapable you play the activity)5 Performance
partially compromised (executes the activity with certain
diffculty), being able to refer signs ofmuscular weakness and
abnormal fatigue.10 Independence (executes the activity normally)
with/without signals offatigue, and muscular weakness only in the
end ofthe activity.* With regard to the item To carry through
activities (work/social)in the community,a maximum punctuation, 10
points, issupplied when the patient is capable to play it with
complete independence in the community. In case that the patient
one only carry through such activities in periods ofreduced time or
with aid ofassistants, it receives punctuation 5. Case not to
execute more activities (work/social) and to remain confned in
domiciliary environment it is graduated with punctuation 0.Figure
1. Severity and Functional Abilities Scale.Rev Neurocienc
2008;16/3:originalSpecifc punctuation for gait or use chair
ofwheel-chair0 Performance total compromised (it does not touch the
chair) on account ofthe degree ofmuscular weakness and fatigue.5
Walk with caregiver aid or equipment ofassistance or touches the
wheel chair with certain diffculty due to the fatigue and muscular
weakness. It does not carry through the task in a long time and for
great distances.10 Walk ofindependent form for 50 meters,
with/without signals ofabnormal fatigue.PART 3 SWALLOWINGSwallowing
PointsNormal alimentary habits 100Problems offeeding, eventual
choking 75Changes in the food consistency (provoked for the
diffculty in the deglutition) 50Necessity ofsounding lead for
feeding 25Necessity ofenteral or parenteral nutrition complete
dependence. 0Total Score for Swallowing: ( )/100 pointsDependence
grade: Complete: ( ); Partial ( ); Functional Independence (
)Grade: Complete: 0 points; Partial: 2575 points; Independence: 100
points.PART 4 BREATHINGBreathing PointsPatient without necessity
ofventilatory support. Normal respiratory standard. 100Patient
presenting dyspnea to the great and/or medium efforts with/without
increase ofthe respiratory frequency and use ofthe accessory
muscles. Not needing support ofoxygen and/or non-invasive
ventilation.75Patient needing periods ofnot invasive ventilation
and/or support ofoxygen. Already relates dyspnea to the small
efforts or the rest, increase ofthe respiratory frequency and use
ofthe accessory muscles.50Patient partially dependent ofmechanical
ventilation (support mode). He receives a pressure from support to
assist its ventila-tion. PSV (pressure support ventilation) + PEEP
(positive end-expiratory pressure).25Dependent patient ofmechanical
ventilation (Assist/Control or controlled mode). 0Total Score for
Breathing: ( )/100 pointsDependence grade: Complete: ( ); Partial (
) ; Functional Independence ( )Grade: Complete: 0 points; Partial:
2575 points; Independence: 100 points.FINAL SCORE OF SEVERITY AND
FUNCTIONAL ABILITY SCALEStage 5 Maximum score gotten in the 4 items
ofevaluation are equal or lower than 80 points ofthe total of400.
Strength ( ) Functional Ability ( ) Breath ( ) Deglutition ( )
Terminal phase ofALS.Stage 4 Maximum score gotten in the 4 items
ofevaluation between 81 and 160 points ofthe total of400. Strength
( ) Functional Ability ( ) Breath ( ) Deglutition ( ) Phase
ofSerious Dependence.Stage 3 Maximum score gotten in the 4 items
ofevaluation between 161 and 240 points ofthe total of400. Strength
( ) Functional Ability ( ) Breath ( ) Deglutition ( ) Phase
ofModerate Dependence.Stage 2 Maximum score gotten in the 4 items
ofevaluation between 241 and 320 points ofthe total of400. Strength
( ) Functional Ability ( ) Breath ( ) Deglutition ( ) Phase ofMild
Dependence.Stage 1 Maximum score gotten in the 4 items ofevaluation
higher than 321 ofthe total of400. Strength ( ) Functional Ability
( ) Breath ( ) Deglutition ( ) Initial phase ofALS.Figure 1.
Severity and Functional Abilities Scale
(cont.)toolsandtheirrelativeutility.Knowledgeof these scales, their
validity, their sensitivity to modifcation,
andtheirspecifcityandinterpretationpitfallsare prerequisite to good
evaluation in daily practice and clinical research14.Although the
present study supplies only pre-liminary results related to a new
instrument ofevalu-ationof patientswithALS,webelievethatsucha
scalecanbeusefulforprofessionalsinvolvedinthe
clinical,laboratorial,orrehabilitativecareof these
individuals.Moreover,ourfndingsmaybeimpor-tantindesigningnewtreatmenttrialsthatusedis-ease
progression as primary endpoint.Theappropriatestratifcationof
eligiblepa-tientscouldresultinrecruitmentof patientsatan early
stage ofthe disease, at a time when they might
bemorelikelytorespondtomediation,physical
therapyaswellastorehabilitativemeasureingen-eral and more likely to
complete the trial.Other symptoms and secondary complications
presented by our patients included: cramps, muscu-lar pain, joint
pain, spasticity, pressure ulcers, sialor-rhoea, muscular
contractures, and other joint abnor-malities. The use ofspecifc
medications in addition to the physical therapy/nursing services is
strategies used for a better management ofthese problems32.202
194-203originalRev Neurocienc
2008;16/3:CONCLUSIONThesepreliminaryresultssuggestthatour5 domain
scale is simple, applicable, not time consum-ing of, as well as
easily reproducible regarding clini-cal course and prognosis
ofpatients with ALS.TheSeverityandFunctionalAbilityScale
(GFSA)isanoptionof
easyutilization,fastappli-cation,andcanbeusedforsequentialambulatory
evaluation,allowingthetoindividualizationof the speedof
functionalcompromise.Theclassifcation by severity stages allows
anticipating conducts. The
resultssuppliedbythisscalecanfacilitatetotake decisionof
themultidisciplinaryteamforthemost adequate
treatment.Atpresent,newpossibilitiesof treatmentfor
patientswithneuromusculardiseasesarerelated with the principles
ofthe scientifc process, time, and effortsof
countlessresearchersregardingtherapeu-ticdecision-makingbasedonstatisticallysignifcant
results and outcomes. Considering the great number ofclinical
studies in the recent past, there are
rela-tivelyfewpapersthatsupplyresultsjustifyingnew
therapeuticmodalities.Thus,someprofessionals makeuseof
not-frictiontherapiesandmonitorthe progress ofthe patients with
empirical data.Ourpilotstudygrantsthenextstepof our research that
includes accuracy, internal validity,
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