MOTOR NEURONE DISEASES

AND OTHER
MOTOR SYSTEM DISEASE

MND
UNKNOWN CAUSE
TRAUMA, EXCESSIVE EXERCISE, LEAD POISONING AND
MERCURY POISONING, OCCULT NEOPLASIA AND VIRUSES
HAVE ALL BEEN SPECULATIVELY LINKED WITH THE
AETIOLOGY OF MND
AFFECTING ALL RACES
YOUNG ADULT MAY BE AFFECTED, BUT MOST PATIENTS ARE
60 YEARS OR OLDER
MALE : FEMALE = 1.5 : 1
THE AVERAGE DURATION OF SURVIVAL IS 3-4 YEARS

CLINICAL PRESENTATION
Difficulty performing specific task:
Turning a key, floppiness of a foot, a weak grip or wasting of some of the muscles of one hand

History of cramps, quivering of muscles, or

heaviness, aching and stiffness of legs

DIAGNOSIS
IS SUGGESTED BY THE PRESENCE OF
FASCICULATION OR WASTING
WITH ENHANCED REFLEXES
AND WITHOUT SENSORY SIGNS

CHARACTERIZED BY
Progressive degeneration of
anterior horn cells
corticospinal fibers, and
motor nuclei in the medulla
Various levels of the nervous system:
bulbar, cervical, and lumbar may be involved
All level of the motor system are involved

The most common presentation:

AMYOTROPIC LATERAL SCLEROSIS
wasting in the upper limbs and spasticity in the lower limbs
PROGRESSIVE MUSCULAR ATROPHY
SHOW PREDOMINANTLY LOWER MOTOR NEURONE CHANGES

PROGRESSIVE LATERAL SCLEROSIS

PYRAMIDAL TRACT DEGENERATION BEFORE MUSCULAR WASTING

PSEUDOBULBAR/BULBAR ;
PROGRESSIVE BULBAR PALSY
BRAIN STEM INVOLVEMENT, PREDOMINANTLY SPASTIC: (PSEUDOBULBAR)
PREDOMINANTLY FLACCID (BULBAR)

AMYOTROPIC LATERAL SCLEROSIS

the most common form of motor neuron disease

Atrophy, weakness and fasciculation in their limb

muscle (indicating a lower motor neuron lesion)
Hyperactive reflexes
Extensor plantar responses
No sensory signs
It is this combination of upper and lower motor neuron
signs in all limbs that hallmark of ALS

FASCICULATION OVER AN AREA MAY BE SEEN WITH

CERVICAL SPONDYLOSIS
SYRINGOMYELIA
ACUTE STAGE OF POLIOMYELITIS
NEURALGIC AMYOTROPHY
THYROTOXIC MYOPATHY

BULBAR SYMPTOMS:
SELECTIVE SWALLOWING DIFFICULTIES
WEAKNESS AND NASAL SPEECH
FASCICULATION AND ATROPHY THE TONGUE

DIAGNOSIS
CLINICAL FEATURES
May leave a little doubt
CONFIRMED BY ELECTROMYOGRAPHY
If indicated muscle biopsy
MYELOGRAM ?
(High cervical lesion)

CFS EXAMINATION
(Neurosyphilis)

PROGNOSIS
IF THE PATIENS ASKS IF THE CONDITION IS
POTENTIALLY LETHAL, THE ANSWER MUST IN
ALMOST EVERY CASE BE YES.
Most patients remain mentally alert and are able to
make rational decisions to cope with their increasing
disability

PARALYTIC POLIO
Persons infected with polio: > 95% asymptomatic viremia and
spontaneous clearing
Flulike prodrome
severe generalized myalgias with focal,
often asymmetric fasciculation;
followed by weakness that often is severe
the legs often are most affected
although any muscle or region can be
involved including diaphragm and bulbar
muscles
Recovery typically is incomplete, atrophy and asymmetric weakness is
often permanent

POST-POLIO SYNDROME

Occasionally a syndrome develops in former paralytic polio victims

several years following the initial attack

Patients typically complain a diffuse myalgias and recurrence of

weakness of muscles that were affected in the initial attack

The lag between the initial attack and development of so-called postpolio syndrome often is measured in decades

PARALYTIC POLIO
POST-POLIO SYNDROME

MANAGEMENT ?

MYASTHENIA
An acquired autoimmune disorder causing skeletal
muscle fatigue and weakness
Autoantibodies against the acetylcholine receptor
produce weakness that can affect the entire body or
only eye movement
Can begin at any time, from early childhood to
extreme old age
The cause of the autoantibodies is not known. The
thymus is implicated in the inception and generation
of the autoantibodies

Auto antibodies bind to the acetylcholine receptor and cause

increased receptor degradation.
The combination of the binding and the turnover effects results
loss of receptor so that an action potential in the motor neuron
does not always result in an action potential in the muscle fiber

Thymoma as present in some patients with myasthenia

Onset in non-thymoma cases:
Peak incidence at 10-30 yeas of age, again at 60-70 yeas of age
Myasthenia associated with thymoma:
Peak incidence at 40-50 years of age
Under 40 predominantly affects women

MYASTHENIA WHICH HAS A DIFFERENT MECHANISM

Neonatal myasthenia
Transient illness, lasting less than 1 month, 1 in 8 babies of myasthenic mothers

Juvenile myasthenia
Myasthenia in the younger age group, generally similar to those of myasthenia in young adults

Penicillamine-induced myasthenia
Usually resolves over several month after drug withdrawal

Lambert-Eaton myasthenic syndrome

A presynaptic disorder characterized by impaired release of Ach from the nerve terminal.
60% cases is associated with small cell lung carcinoma

Congenital myasthenia
Familial myasthenia

SYMPTOMS AND SIGNS

weakness of skeletal muscle is
characteristically increased by exercise,
but is not associated with muscle pain
(in contrast to physiological fatigue)
emotional stress, pregnancy and infection can also cause an
exacerbation of symptoms

Ocular muscles
Limb weakness
Bulbar muscle weakness
Respiratory muscle involvement

CLINICAL CLASSIFICATION
Main groups of acquired myasthenia gravis
Group I: ocular myasthenia gravis (symptoms may remain
persistently confined to the ocular muscles, particularly
when 2 years have elapsed since the onset
Group IIA, B: mild or moderately severe generalized
myasthenia gravis
Group III: acute severe (fulminating) myasthenia gravis
with respiratory muscle involvement
Group IV: late (chronic) severe disease

INVESTIGATION
Anti-ACHR antibody
Antistriated muacle antibody
Edrophonium chloride test
(modification?)
Electromyographic techniques
Thymoma

MODES OF THERAPY
Anticholinesterase therapy:
Pyridostigmine, 30-120 mg orally
Neostigmine bromide, 15-30 mg orally every 3 hours except at
night
Higher dose than those given above are seldom indicated and
greatly increase the risk of cholinergic crisis.
Side-effects are caused by para-sympatithetic stimulation and
include:
- pupillary constriction
- colic
-

diarrhoea
Increased salivation
Increased sweating
Increased lacrimation
Increased bronchial secretions

MODES OF THERAPY
Corticosteroids:
Prednisolone - suitable
- once daily on alternate days to avoid
side-effects
- initial dose 10 mg, increased slowly
out patients: 5-10mg / week
in patients: 5-10 mg / dose
to avoid the exacerbation of symptoms
that can occur when the drug is started at a high dose
- Maximal dose: 1-1.5 mg / kg body weight
- (or symptoms are controlled)

Thymectomy
Intravenous immunoglobuln
Plasma exchange
Improvement is expected although most patients are
maintained on a low-dose corticosteroid after their
initial tapering
Crisis may develop requiring hospitalization,
administration or IVIG or PE, and/or transient
increases in corticosteroid

MYASTHENIC CRISIS
occurs with inadequate treatment and can be
precipitated by infection.
Treatment consist of:
Control of the airway and assisted ventilation
Anticholinesterase medication
Immunosuppressive drug therapy and/or plasma
exchange

CHOLINERGIC CRISIS
caused by excess anticholinesterase medication
Treatment consist of:
Control of the airway and assisted ventilation
Temporary withdrawal of anticholinesterase drugs,
with later reintroduction at a reduced dose regiment
Immunosuppressive drug therapy and/or plasma
exchange
Atropine, if not already being given