MOTOR NEURON DISEASE

DR AYUNGA
LECTURER
EU
 CONTENTS
• Introduction/definition
• Clinical features
• Differential diagnosis
• Management
 Definition
• Motor neuron disease is a progressive
neurodegenerative condition
• Characterized by motor systems failure
• Results from death of nerves that supply
voluntary muscles
• Presents with both upper motor and lower
motor neuron features
• The most common presentation is ALS-
Amyotrophic lateral sclerosis
• Progressive involvement of UMN and LMN
without sensory and bladder involvement
• degeneration of pyramidal fibres, cranial
motor nuclei and anterior horn cells
 TYPES
• Amyotrophic lateral sclerosis (ALS)
• Lower motor Neuron disorders
• Upper motor neuron disorders
 ALS
• Presents with features of both UMNL/LMNL
• In the limbs and bulbar muscles
• UMN weakness in lower limbs.
• LMN weakness in the upper limbs
• Brisk reflexes
• Bilateral pyramidal tract signs
• Extensor plantars
 
 Pathogenesis of ALS
• excitotoxic neurotransmitters such as
glutamate participate in the death of motor
neurons in ALS.
• gene defects in familial forms
 Clinical features of ALS
• depend on whether UMN or LMN involved.
• LMN-asymmetric weakness, usually first
evident distally in one of the limbs.
• recent development of cramping with
volitional movements.
• Weakness caused by denervation is associated
with:
- progressive wasting
-atrophy of muscles
- spontaneous twitching of motor units, or
fasciculations
 Clinical features
• In the hands extensor over flexor weakness
is common.
• bulbar muscles-difficulty with chewing,
swallowing, and movements of the face
and tongue.
• Early involvement of the muscles of
respiration may lead to death
 Clinical features
• prominent UMN-there is increased tendon
jerks,spastic resistance to passive movements of
the affected limbs.
• Degeneration of the corticobulbar projections
innervating the brainstem results:-dysarthria
and exaggeration of the motor expressions of
emotion.
• The latter leads to involuntary excess in weeping
or laughing (pseudobulbar affect).
 Clinical features
• Virtually any muscle group may be the first to
show signs of disease
• as time passes on the disorder takes on a
symmetric distribution in all regions.
• sensory, bowel and bladder, and cognitive
functions are preserved.
• Ocular motility is spared until the very late stages
of the illness.
• ALS may also be co-inherited with FTD
 established diagnostic guidelines
for ALS.
• Essential for the diagnosis is simultaneous UMN
and LMN involvement
• with progressive weakness
• The disorder is ranked as "definite" ALS when 3
or 4 of the following are involved: bulbar,
cervical, thoracic, and lumbosacral motor
neurons.
• When two sites are involved, the diagnosis is
"probable," and when only one site is implicated,
the diagnosis is "possible."
 DIFFERENTIALS OF ALS
• Compression of the cervical spinal cord or
cervicomedullary junction from tumors in the
cervical regions
• multifocal motor neuropathy with conduction
block
• chronic lead poisoning
• Thyrotoxicosis
• Poliomyelitis
• Fronto-temporal dementia
 Treatment of ALS
• No treatment arrests the underlying
pathologic process in ALS.
• riluzole (100 mg/d) was approved for ALS
• it produces a modest lengthening of survival
• reduces excitotoxicity by diminishing
glutamate release.
• Foot drop splints
• finger extensor splints
• Other supportive measures
 MND:Selected Lower Motor
Neuron Disorders
• the peripheral motor neurons are affected
• No evidence of involvement of the UMN
 X-Linked Spinobulbar Muscular
Atrophy (Kennedy's Disease)
• X-linked LMN disorder
• progressive weakness and wasting of limb and
bulbar muscles
• begins in males in mid-adult life
• androgen insensitivity manifested by
gynecomastia and reduced fertility
 Adult Tay-Sach's Disease
• adult-onset-LMN arising from
deficiency of the enzyme -
hexosaminidase (hex A).
• distinguishable from ALS because
they are very slowly progressive;
• dysarthria and radiographically
evident cerebellar atrophy may be
prominent.
 Spinal Muscular Atrophy
• The SMAs are a family of selective lower
motor neuron diseases of early onset.
• The defect in the majority of families with
SMA maps to a locus on chromosome 5
• characterized by extensive loss of large motor
neurons
• muscle biopsy reveals evidence of
denervation atrophy.
No cure nor effective treatment
 Multifocal Motor Neuropathy with
Conduction Block
• LMN function is regionally and chronically disrupted by
remarkably focal blocks in conduction.
• Many cases have elevated serum titers of mono- and
polyclonal antibodies to ganglioside GM1;
• it is hypothesized that the antibodies produce selective,
focal, paranodal demyelination of motor neurons.
• MMCB is not typically associated with corticospinal signs.
• In contrast with ALS, MMCB may respond dramatically to
therapy such as IV immunoglobulin or chemotherapy.
 Progressive bulbar palsy
• degeneration of the LMNs innervating the
bulbar region (mouth, face, and throat)
• Progressive LMN weakness of tongue and
bulbar muscles
• Wasting and fibrillation of tongue
• Weakness of pharyngeal and laryngeal muscles
• Patient will present with dysphagia, dysphonia
• Gag reflex will be absent
 Upper Motor Neuron disorders
Primary Lateral Sclerosis
• rare disorder
• arises sporadically in adults in mid- to late life.
• PLS is xcterized by progressive spastic weakness
of the limbs
• combined involvement of the corticospinal and
corticobulbar tracts.
• Fasciculations, amyotrophy, and sensory changes
are absent.
 PLS
• On neuropathologic examination there is
selective loss of large pyramidal cells in the
precentral gyrus .
• degeneration of the corticospinal and
corticobulbar projections.
• The peripheral motor neurons and other
neuronal systems are spared.
• The course of PLS is variable.
 Familial Spastic Paraplegia
• In its pure form, FSP is usually transmitted as an
autosomal trait
• Symptoms usually begin in the 3rd and 4th
decade,
• Presents as progressive spastic weakness
beginning in the distal lower extremities.
• FSP typically has a long survival.
• In pure forms of FSP, the spastic leg weakness is
often accompanied by posterior column
 Pseudobulbar palsy

• Pseudobulbar palsy refers to degeneration of

the UMN to the mouth, face and tongue.
• Progressive bulbar palsy (UMN)
• Exaggerated gag reflex
• Emotional liability like crying, laughing
without any stimulus
 INVESTIGATIONS
• Lab studies :
Hemogram Serum B 12 levels
ESR
VDRL
HIV ELISA
 Radiology

• MRI study to rule out alternative diagnosis

• Motor sensory nerve conduction study
normal
• Electro Myography (EMG) to distinguish from
PLS from ALS
• Lumbar Puncture (LP) to rule out other causes
•