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Doctor explains ALS in 60 seconds #ALS #Neuroscience
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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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