ms 1.4 Flashcards by SOPHIA ANNE MANUBAY

• A group of progressive degenerative disorders of the:
- Motor neurons in the spinal cord
- Brainstem
- Motor cortex
• Manifest clinically by muscular weakness, atrophy, and corticospinal signs in varying combinations
Disorders that predominantly or exclusively affect the UMN, LMN or both Sensory neurons are spared

Motor Neuron Disease

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Amyotrophic Lateral Sclerosis aka

Lou Gehrig’s disease

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Lou Gehrig’s disease
Most common MND in adults.
Onset in middle and late life
10% with onset before age 40 <
•5% with onset before age 30 - <30
hereditary MND
• M>F

Amyotrophic Lateral Sclerosis

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Progressive, insidious onset
• Most patients die within 3-5 years of onset of symptoms
• Subacute to chronic progressive weakness, asymmetric at onset

Amyotrophic Lateral Sclerosis

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• UMN + LMN signs and symptoms
• / Preservation of EOMs
• / Intact bladder and bowel functions
• Absence of cognitive and sensory changes if no associated FTD (10%)
• 5% have familial ALS - AD, AR, X-linked Majority are sporadic of unknown cause

Amyotrophic Lateral Sclerosis

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ALS patho - prescence of?

intraneural inclusions

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Progressive painless weakness with prominent atrophy and fasciculations
• Overactive reflex with Hoffman sign in arms that are weak, wasted and with fasciculations

ALS CM

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Muscle cramps - hypersensitivity of denervated muscles
Weight loss - muscle wasting and dysphagia
Respiratory impairment - diaphragm and paresis of intercostal muscles; early or late
• Pain may occur later when limbs are immobile due to spasticity and contractures

ALS CM

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preferential atrophy of the thenar (APB, FDI) with relative preservation if the hypothenar muscles; specific and early feature of ALS

split hand ALS cm

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Atrophy and fasciculations of tongue ○ Dysarthria before dysphagia
○ Lateral borders of tongue waste first and symmetrically
● Spasticity, spastic gait
● Babinski, clonus, Hoffman
● Clumsiness
● Slow rapid alternating movements
● Facial weakness and wasting especially in
mentalis
● Pseudobulbar palsy

ALS CM

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Upper and lower motor neuron degeneration

ALS

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Purely lower motor neuron involvement

progressive muscular atrophy (PMA)

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Purely upper motor neuron involvement

Primary lateral sclerosis (PLS)

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Bulbar symptoms only
bulbar-onset ALS

Progressive bulbar palsy

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Lower motor neuron predominant, one arm

Monomelic muscular atrophy

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Lower motor neuron predominant, both arm

Bibrachial amyotrophy

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<8% of MND
● Pure LMN form of MND
● Male
● Asymmetrical wasting and weakness, often in
the legs that later coalesce to involve 4-limb LMN

Progressive muscular atrophy

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● <3%
● Progressive MND with pure UMN problem
● Slowly progressive spastic quadriparesis
● Onset after age 40
● Spasticity, gait dysfunction, spastic dysarthria,
hyperreflexia
● Needs at least 4 years observation
● Burden of disability is high
● Consistent with good survival

Primary lateral sclerosis

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● MND selectively affecting bulbar muscles
● Dysarthria, dysphagia
● Most are bulbar-onset ALS - rapid progression
to limb weakness and decreased survival
● Females, >65 yo, typically retain normal limb strength despite progression to anarthria within a year
● UMN features (slow spastic tongue with jaw jerk) predominate

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Progressive bulbar palsy

● Focal MND restricted to 1 limb, LMN predominant
● Hirayama syndrome, monomelic amyotrophy, monomelic ALS, benign focal atrophy
● M>F (10x)
● Onset: 20yo
● Common in southeast Asia (Japan and India)
● Typically involves arm C7-1 innervation
● Progresses slowly then stabilizes

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Monomelic muscular atrophy

● Brachial diplegia
● LMN predominant with some UMN signs
● Restricted to both arms
○ Bilateral weakness and wasting of proximal upper limb
○ Arm posture is typically pronated and arms are dangling
○ Man-in-a barrel
○ May be associated with dropped head
● M>F (8-9:1)
● Slower progression
○ Respiratory muscles affected late in
disease
○ Survival 5-7 years

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Bibrachial amyotrophy

● Gene: Xq11-12, the site of androgen receptor
○ Mutation: expansion of CAG repeat
● Onset 3rd to 5th decade
● Prevalence 1/40,000
● LMN dysfunction in limb (more prominent
proximally) and facial muscles

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X-LINKED RECESSIVE SPINOBULBAR MUSCULAR ATROPHY (KENNEDY DISEASE)

● Dysarthria, dysphagia with prominent tongue
and mentalis fasciculations
● Slow course with limb weakness delayed for
years
● Large fiber sensory peripheral neuropathy
● Gynecomastia and impotence

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X-LINKED RECESSIVE SPINOBULBAR MUSCULAR ATROPHY (KENNEDY DISEASE)

● AD, AR, X-linked
● Insidiously progressive gait disturbance
● Variable age of onset

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Hereditary Spastic Paraparesis

○ Spastic leg weakness with hyperreflexia, Babinski ○ Urinary urgency, frequency or hesitance ○ Mild loss of vibration sense on legs

Uncomplicated or pure HSP

○ Spastic paraparesis with neurologic abnormalities (optic atrophy, retinopathy, seizures, MR, dementia, extrapyramidal abnormalities, peripheral neuropathy)

Complicated HSP

● Critical to confirming lower motor neuron involvement in ALS ● Rule out mimics

ELECTRODIAGNOSTIC TEST

combination of sodium phenylbutyrate and taurus ursodiol ○ Prevent nerve cell death by blocking stress signals ○ Approved 2022

Relyvrio

thickened riluzole) - approved 2018

Riglutik

riluzole oral film) - approved 2019

Exservan

dextromethorphan and quinidine sulfate) Treatment of pseudobulbar affect ● Approved 2011

Nuedexta

Problem in protein formation ● Loss of motor neuron function ● Autosomal recessive MND

Spinal muscular atrophy

● SMN (survival motor neuron) gene mutation ○ SMN1 mutation at chromosome 5q11 with resultant reduction of SMN protein levels ○ SMN is required for assembly of spliceosomal small nuclear ribonucleoproteins which are involved in mRNA processing

SMA

● Subacute weakness with variable age of onset ● LMN dysfunction ● Absence of cognitive and sensory changes ● Treatment: symptomatic management

SMA

near identical to SMN 1 ○ Produces small amounts of residual protein ○ Obviating the inevitable lethality associated with complete loss of SMN protein

SMN 2

Disease severity is roughly proportional to residual SMN levels, which are a function of the SMN 2 copy

SMA

● Starts between ages 6-18 months ● Develop ability to sit unsupported ● Never walk ● Complications: respiratory insufficiency and scoliosis ● Normal or slightly reduced life expectancy ● 3 SMN 2 copies

SMA Il (intermediate or chronic infantile disease or Dubowitz disease)

● After age 18 months ● Type Ill a: able to walk before age 3 ● Type III b: able to walk after age 3 ● Manifest as difficulty climbing stairs or impaired walking ● Normal life expectancy ● Rare serious dysphagia and respiratory compromise ● 3-4 SMN 2 copies

SMA III Kugelberg-Welander Chronic juvenile disease

● Onset adulthood ● Only 50% have SMN mutations ● AD, AR, X-linked

SMN IV

● EOMs spared ● Facial weakness mild or absent ● With tongue fasciculations ● Postural tremor ● Respiratory muscles affected ● Weak axial muscles which can lead to scoliosis

SMA CM

○ Selective dysarthria and dysphagia begin in late childhood or adolescence ○ Tongue atrophy with fasciculations ○ May also affect limbs and respiration but occurs later

● Fazio-Londe Syndrome

enterovirus from Picornaviridae family

Poliomyelitis

● Transmission: orofecal route (main) and pharyngeal spread ● Secreted in saliva a n d feces ● 95% are asymptomatic or abortive flu-like symptoms

Poliomyelitis

high fever with pharyngitis, myalgia, anorexia, N&V, headache, neck stiffness

Meningitis phase polio

myalgia and severe muscle spasms, with subsequent development of asymmetric, flaccid weakness which becomes maximal after 48 hrs ○ LE>UE ○ Proximal ○ Loss of reflexes ○ Normal sensation

Spinal poliomyelitis

● Direct passage through BBB, or retrograde axonal transport from muscle to SC and brain

Polio

● New neuromuscular symptoms that some patients develop 15 years after reaching maximum recovery from acute paralytic poliomyelitis; unrelated to orthopedic, neurological, psychiatric or systemic illness ● Insidious onset of progressive impairment or functional deterioration ● Weakness usually in previously affected limb but may also occur as a result of extra load o n unaffected limb

Post-polio syndrome

ms 1.4 Flashcards

(47 cards)