Doctor explains ALS in 60 seconds
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🩺Diagnosis:
Amyotrophic Lateral Sclerosis / Lou Gehrig's disease / ALS
🔍Risk Factors/ Pathophysiology :
Epigenetic: Military Vets have a 2x higher risk of contracting ALS
Genetic/ inherited
Errors in protein transport & Recycling ➡️ protein accumulation ➡️mitochondrial damage ➡️ breaks in 🧬
Poor 🧬 repair = ☠️ of the neuron
Cell transport ⚙️ damaged ➡️ issues with neurotransmitter messaging
Damage to the cytoskeleton ➡️ axonal retraction ➡️ disconnection of nerves & muscles
Oligodendrcyte damage & ⬇️ uptake of neurotransmitters ➡️ 💀
Neuro-inflammation
🕵🏼♂️Differential Diagnosis:
Multifocal motor neuropathy
Cervical radiculomyelopathy
Benign fasciculations
Inflammatory myopathies
Post-polio syndrome
Monomelic amyotrophy
Hereditary spastic paraplegia
Spinobulbar muscular atrophy
Myasthenia gravis
Hyperthyroidism
🧪🩻Diagnostics:
Electromyography (EMG)
Nerve conduction studies
Brain MRI
Neuromuscular ultrasound +/- muscle biopsy
LP for CSF analysis testing
Urinalysis with culture +/- UPEP, CBC w/ diff, CMP, TSH, CK, ESR, ANA, RF, B12, anti-GM1, HIV
Genetic tests: C9orf72, SOD1, TARDBP, FUS, and UBQLN2
💊 Treatment:
Riluzole
Edaravone
Tofersen (Qalsody)
Symptomatic management
#medicalstudent #medicaleducation #usmle
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