1

MOTOR NEURON DISEASES

I. General Medical Background
A. Definition A group of conditions or diseases that produce dysfunction of the motor neurons, resulting in weakness and muscle wasting. These include diseases or conditions that affect the upper (corticobulbar and corticospinal) motor neurons, the bulbar and spinal lower motor neurons, or both. B. Classification Motor neuron diseases can be classified in a number of ways. or easier grasp of the concept of motor neuron diseases, it will be presented here based on the location of pathophysiological in!ol!ement" a. #pper Motor $euron %isorders & 'rimary lateral sclerosis & Tropical spastic paraparesis & (athyrism & )pidemic spastic paraparesis & amilial (hereditary) spastic paraplegia b. *ombined #pper and (ower Motor $euron %isorders & *lassic amyotrophic lateral sclerosis (A(+) & amilial A(+ & ,estern 'acific A(+ - parkinsonism dementia comple. & Groote )ylandt motor neuron disease & 'ostencephalitic (encephalitis lethargica) A(+ & /u!enile inclusion body A(+ c. (ower Motor $euron %isorders & +pinal (bulbospinal muscular) atrophies o 0nfantile forms of spinal or bulbospinal muscular atrophies & Acute infantile spinal muscular atrophy & *hronic infantile spinal muscular atrophy o /u!enile and adult forms of spinal or bulbospinal muscular atrophies & /u!enile and adult pro.imal spinal muscular atrophy & Bulbar disease of childhood & %istal spinal muscular atrophy o Adult forms of bulbar and bulbospinal muscular atrophies & +capuloperoneal (fascioscapuloperoneal) muscular atrophy & *hronic bulbospinal muscular atrophy of late onset & Monomelic (segmental) spinal muscular atrophy & Monoclonal gammopathy and motor neuron disease & *ancer and motor neuron disease & 'oliomyelitis and post&polio syndrome C. Epidemiology The incidence of M$% is appro.imately 1-2 out of 133,333 people. Men ha!e a slightly higher incidence rate than women. Appro.imately 2,433 cases are diagnosed in the #.+. e!ery year. By far the greatest risk factor is age, with symptoms typically presenting between the ages of 23&53. Most common motor neuron disease worldwide is amyotrophic lateral sclerosis. 0n 6333, the 'hilippines and the ,estern 'acific was declared poliomyelitis& free. 7owe!er, sur!i!ors of poliomyelitis infection, particularly of the paralytic type, who undergo post&polio syndrome are the main concerns for

6 rehabilitation. Etiology The cause(s) of most motor neuron diseases are unknown, but some factors ha!e been implicated, such as" )n!ironmental To.ic 8iral Genetic Pat op ysiology ! Pat omec anics )ach motor neuron disease has its own sites of predilection. 'athophysiologic changes may !ary but all affect the motor neurons which undergo processes of degeneration. +keletal muscles are inner!ated by a group of neurons (lower motor neurons) located in the !entral horns of the spinal cord which pro9ect out the !entral roots to the muscle cells. These ner!e cells are themsel!es inner!ated by the corticospinal tract or upper motor neurons that pro9ect from the motor corte. of the brain. :n macroscopic pathology, there is a degeneration of the !entral horns of the spinal cord, as well as atrophy of the !entral roots. 0n the brain, atrophy may be present in the frontal and temporal lobes. :n microscopic e.amination, neurons may show spongiosis, the presence of astrocytes, and a number of inclusions including characteristic ;skein& like; inclusions, bunina bodies, and !acuolisation. There is a role in e.citoto.icity and o.idati!e stress, presumably secondary to mitochondrial dysfunction. Clinical Manifestation#s$ +ymptoms may include" %ifficulty swallowing (imb weakness +lurred speech 0mpaired gait acial weakness Muscle cramps Additional signs<symptoms may be present which are specific to each motor neuron disease. Complication#s$ =espiration problems may occur but this usually happens in the later stages of the disease. %eath is usually due to respiratory complications. :ther complications are primarily due to loss of neuromusculoskeletal function, such as" Atrophy *ontractures Diagnosis The diagnosis of motor neuron disease is made from a physical e.amination, an )MG study, and a pattern of finding and e.cluding other diseases which allows a physician, particularly a neurologist, to establish a diagnosis and to determine which form of the disease is present. Diffe'ential Diagnosis Motor neuron diseases may manifest as upper, lower, or combined upper and lower motor neuron lesion signs<symptoms. To differentiate, the following table may be useful"
Uppe' Moto' Ne('on )esion )o*e' Moto' Ne('on )esion

D.

E.

".

%.

&.

I.

A
,eakness Atrophy asciculations < fibrillations =efle.es Babinski>s +ign +pastic $o significant atrophy Absent 7yperrefle.ia May be present laccid +ignificant 'resent 7yporefle.ia Absent

0f a mi.ture of the abo!e signs occurs, the lesion would most probably be a combined upper and lower motor neuron disease. urthermore, it is best to tabulate the different motor neuron diseases to be able to compare each particularly as to the following" a. %efinition b. )pidemiology, particularly demographic factors c. )tiologic factor(s) d. 'athophysiology e. *linical manifestation(s), including peculiarities f. 'ossible complications g. #seful diagnostic procedures h. 'rognosis +. P'ognosis The prognosis for people li!ing with a motor neuron disease !aries depending on the type. or some?such as people with A(+?the outcome is terminal. At this time there is no cure for motor neuron disease :!er the last ten years, it appears that people with motor neuron diseases are li!ing longer because of impro!ed care and increased knowledge of the disease.

II.

Medical Management
A. P a'macologic a. & o & B. Medical ! S('gical a. & o &

III.

'hysical Therapy ).amination, )!aluation @ %iagnosis

A. Points of Emp asis in E,amination a. & o & B. P'o-lem )ist a. & o

B & C. P ysical T e'apy Diagnosis a. & o &

I..

'hysical Therapy 'rognosis (including 'lan of *are) @ 0nter!ention

A. Plan of Ca'e a. & o & B. Inte'/entions a. & o & >