Motor Neuron Disease

Amyotrophic Lateral Sclerosis

1. Other Names
a. Charcot’s Disease
b. Lou Gehrig’s Disease
i. 80% die in 3 years
ii. 15% die in 5 years
iii. 5% die in 10 years
c. Adult Motor Neuron Disease
i. Benchmark
1. UMNL
2. LMNL
d. “Akin Lahat Syndrome”
2. Epidemiology
a. Male > Female
b. 40-60 y/o
3. Etiology
a. Idiopathic
4. Medications
a. Rilutec/Rilutek
b. Riluzole
i. Anti-Glutamate to delay the death of neurons
5. Variants
a. Pure UMNL – primary lateral sclerosis
b. Pure LMNL – progressive muscular atrophy
c. Pure CN – progressive bulbar atrophy
6. Onset
a. Limb Onset – 70-80%
b. Bulbar Onset – 20-30% (worst prognosis)
7. Clinical Manifestation
a. UMNs
i. Hypertonic
ii. Spastic
iii. ↑ DTR
iv. Pathologic Reflexes
b. LMNs
i. Hallmark Sign of ALS: Muscle Weakness
1. Weakness of Cervical Extensor
ii. Muscle Atrophy
1. Severe Wasting
2. Skeleton/skeletal/Cadaveric Hand
iii. Cachexa – severe weight loss 2 to muscle atrophy & ↓ fiber intake
c. Fasci/Fibrillation
d. Cranial Nerve – 5,7,9,10,11,12 “1975 + 11 + 12”
8. Spared ALS

M ental Status
O cular Muscle (CN 3, 4, 6)
O nufrowics Nucleus – striated muscle (controls Bowel/Bladder)
N on-Motor CN 1, 2, 8
C erebellum
S ensory System

9. Types
a. Sporadic ALS
i. Most Common

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 Motor Neuron Diseases

ii. Idiopathic
b. Familial ALS
i. 85% idiopathic
ii. 15% genetic problem
1. Chromosome 21 – Autosomal Dominant
2. Gene – Superoxide Dismutase 1 (SOD1)
c. Juvenile ALS
i. Autosomal Recessive
1. ALS5 – Chromosome 15 (Teenagers)
2. ALS2 – Chromosome 2 (<10 y/o)
ii. Autosomal Dominant
1. ALS4 – chromosome 9
d. Guamanian ALS
i. Common in Guam and Pacific Island territories
ii. 2° toxicity of cycad seed
iii. Western Pacific ALS
iv. Fronto-temporal Dementia Complex
e. Secondary ALS
i. Cancer
ii. Lead Toxicity
10. Poor Prognosis

B ular Dysfunction
P ulmonary Dysfunction
Old Age
L MNs at Onset
S hort time period from onset to Dx

11. El Escorial Criteria

a. 4 Regions
i. Bulbar – Face
ii. Cervical – UE
iii. Thoracic – Trunk
iv. Lumbar – LE
b. Clinically definite – (+) UMNs & LMNs in 3-4 regions of the body
c. Clinically Probable – (+) UMNs & LMNs in 2 regions of the body
d. Clinically Possible – (+) UMNs & LMNs in 1 region of the body
i. Consideration Clinically Possible – (+) UMNs in 2 regions of the Body

Anterior Horn Cell

I. SMA
1. Spinal Muscular ARtrophy
a. Group of Autosomal Recessive d/o with 1° degeneration in AHC
b. 2nd Most fatal AR d/o (Most fatal is Cystic Fibrosis)
c. Chromosome 5 – Gene – survival Motor Neuron 1 (SMN1)
d. ↑ IQ
e. Types of SMA

SMA I SMA II SMA III SMA IV

Acute Werdnig Chronic Werdnig
Kugelberg-Welander
Hoffman Hoffman
AKA Adult-Onset
Infantile Early Later
Floppy-Infant Syn. Intermediate SMA Chronic-Juvenile SMA
Onset 3-6 months 6-18 months after 18 months 17-55 y/o
Lifespan <2 years Mid 20’s Near Normal Normal

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 Motor Neuron Diseases

Muscle Static – Very Slowly Same with SMA III but

Severe & Progressive Less severe
Weakness Progressive more progressive
Arthrogryposis – Less Severe
Other
Tongue Fasciculation severe & Multiple joint Contracture &
Signs
contracture & scoliosis Scoliosis
Jug Handle Position
UE
(ABER)
(+) Sit Independently (+) Gower Sign
Frog Leg Position
LE
(ABER)
Cause of
Respiratory Failure
Death

f. Kennedy’s Disease
i. Spino-bulbar-Muscular Atrophy
ii. X-Linked Recessive
iii. Sx
1. Spinal Muscle Weakness
2. Bulbar Muscle Weakness
3. ↓ reflexia
iv. (+) Endocrinopathy
v. (+) Gynecomastia
1. Testicular Atrophy
2. ↓ Fertility

Poliomyelitis
1. AKA
a. Heire-Medin Disease
2. Epidemiology
a. M = F
b. Child = adult
3. Etiology
a. Viral
b. PICORNA Virus
4. Route
a. Fecal-Oral
5. Virus
a. Brunhilde – most paralylogetic
b. Lansing – most frequent
c. Leon – most fatal
6. Key Treatment
a. Prevention
b. SALK – Intramuscular
c. Sabin – Orally
7. Clinical Stages
a. Acute Stage
i. Minor Stage
1. Asymptomatic Polio
a. (-) S/Sx
b. (+) Viremia
2. Abortive Polio
a. (+) Flu-like Symptom
i. Flu
ii. Fever
iii. HA
iv. Nausea

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v. Constipation
vi. Muscle Tenderness
ii. Major Stage
1. Non-Paralytic Polio
a. Virus – Meninges/Meningitis
i. (+) Lhermitte’s Sign
2. Paralytic Polio
a. Spinal Polio
i. @ AHC (Lumbar)
ii. LE > UE
iii. Asymmetric
iv. Prox > Distal
b. Bulbar Polio
i. CN – 5, 9, 10, 11 “1951”
c. Bulbospinal Polio
i. Comb 2
ii. AKA/Cause of Death: respiratory polio
iii. C3, 4, 5
b. Recovery Stage
i. When all the s/sx subsides
ii. 2 years
iii. Rehab
c. Residual Recovery
i. When the recovery of muscle plateaus
d. Post-Poliomyelitis
i. Criteria
1. Confirmed hx of Paralytic Polio
2. 15 years of partial to complete fxnal recovery
3. Onset of new muscle weakness
4. Persistent symptoms for 1 year
5. No other medical dx

Neuromuscular Junction
Myasthenia Gravis
 Post-Synaptic Disorder
 Autoimmune Disorder
 Anti-Ach receptors, ↓ # of Ach receptors
 Idiopathic
 Thymoma
 F>M
 MC Sx: Ptosis -> leads to Ophthalmoplegia
 CN Affected: 3, 4, 6
 Proximal > Distal
 Decrementing Muscle Response
 Heat Sensitivity
 Dx Tool for MG: Tensilon Test
o Endrophonium Test
o Anti-Acetylcholinesterase
o 2-4 minutes
 Medications
o Neostigmine
o Pyridostigmine
o Physostigmine
o 2-4 hours
 Medication Overdose

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 Motor Neuron Diseases

o Cholinergic Crisis: weakness 2° over accumulation of Ach in Synaptic Cleft

 Myasthenic Crisis
o Severe form of MG that involves respiratory system

LEMS
 Lambert Eaton Myasthenic Syndrome
 Presynaptic Disorder
 Auto-immune disorder
 Idiopathic
 Anti-Ca Channel, ↓ # Ach Enzyme
 Lung Cancer
 M>F
 Autonomic Nerve Involvement
 Proximal > Distal
 Incrementing Muscle Response
 Medications: Guanidine

Botulism
 Presynaptic Disorder
 2° Clostridium Botulinum
o Food botulism – improperly prepared canned goods
o Infant Botulism – Honey
o Wound Botulism
 S/Sx
o General Muscle Weakness
o Oculobulbar Muscle Weakness
o Autonomic Nerve
o Descending Muscle Weakness
 Medications
o HBAT (Heptavalent Botulinum Anti Toxin)

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