38 Motor Neuron DIsease Flashcards
Biopsy of LMN disease?
atrophic fibers + fiber grouping (↓# Motor Units)
Werdnig-Hoffman:
Age of onset?
infantile (AR)
Werdnig-Hoffman:
Signs/symptoms?
- Atrophy
- ↓tone
- ↓reflexes
- +fasciculations (tongue)
- poor suck reflex
- Frog Leg Posture (abducted hips from weakness)
Werdnig-Hoffman:
EMG?
muscle denervation + fasciculations
Werdnig-Hoffman:
Biopsy?
group muscle fiber atrophy
Wohlfart Kugelberg Welander:
Signs/symptoms?
- fasciculations
- arm hyperpronation
- atrophy of pectoralis + thigh muscles
- prox musc weakness
Wohlfart Kugelberg Welander:
Labs/Biopsy?
- normal CK (not myopathy)
- fiber denervation
Wohlfart Kugelberg Welander:
Age of onset?
juvenile
Spinal Muscular Atrophy:
Genetic abn?
loss of SMN1; phenotype determined by loss of SMN2
What determines severity of Spinal Muscular Atrophy?
↑Copies of SMN2 (↓severity = Juvenile)
What is ALS?
- progressive loss of LMN in spinal cord/ brainstem
- UMN projecting into CST
Etiology of idiopathic ALS?
↑Glutamate: too much excitement = degeneration
Etiology of hereditary ALS? • Familial • Juvenile • w/FTD • MCC
- Familial: AD xSuperoxide Dis Gene (GOF Ch. 21)
- Juvenile: Gene Mutation (Ch. 9)
- w/FTD: Gene Mutation (Ch. 17)
- MCC: Ch. 9 C90RF72 Expansion
Amyotrophic Lateral Sclerosis:
Gross path?
lack of myelin (pale) in CST + loss of anterior horn neurons
Spinal Cord Section
ALS:
Micro path?
Bunina Body: ↑eosinophilic inclusion bodies in anterior horn cell neurons (↑ubiquitin)
ALS:
LMN signs?
- weak, atrophic muscles (early = distal)
- tongue atrophy
- fasciculations
ALS:
UMN signs?
- weakness
- ↑reflexes
- spastic (↑tone)
- Babinski+
ALS:
Sensation?
nml
ALS:
Cause of death?
difficulty swallowing + breathing
ALS:
Diagnosis?
MRI, EMG, Standard Neuro Exam
**MRI: Rule Out Spondylosis
ALS:
Trx?
- Glutamate Antagonist (Riluzole)
- Symptomatic Treatment
- Anti-chol/Botulinum Toxin (↓excess salivtn from ↓swallowing)
- Bracing (Foot-drop)
- Gastrostomy
- Resp Assistance (once depr develops)
Progressive bulbar palsy affects:
muscles innervated by the medulla neurons
Progressive bulbar palsy causes:
tongue and palate weakness (rapidly progressing)
Progressive lateral sclerosis affects:
primarily the upper motor neurons with little atrophy or signs of denervation
Progressive lateral sclerosis causes:
- Hyperreflexia
- spasticity
- *~benign form of ALS
Progressive spinal musc atrophy causes:
- progressive weakness + atrophy
- fasciculations
- areflexia
