ALS

1824 Charles Bell described first.
1874 Jean Martin Charcot (named ALS)
55-75 yrs
White > black.
M>F in early stages
👉90-95% Unknown cause.
👉5-10% inherited: 25-40% familial is C90RF72 gene, SOD1 production of enzyme copper-zinc superoxide dismutase 1. Childhood gene SPTLC1

Motor Neurone disease
🔴 Mixed Upper / Lower motor neuron signs.
Progressive.
weakness
Atrophy
Fasciculation
Dysphagia
Dysphasia
Hyperreflexes+Spasticity
🔴 EMG : + > 2 Limbs. > 1 bulbar / thoracic. +Fib +PSW. Reduce recruitment + Large motor units
Normal NCV.

Possible involving 1-2 regions
Probable : > 2 regions
Definite > 3 regions

UMN : hyperreflexia, spasticity, inc tone
LMN: weakness, wasting, fasciculation

Early
Muscle weakness
Fasciculations
Fatigue
Muscle cramp
Poor balance
Slurred speech

Middle
Increase weakness
Dysphagia
Respiratory issues
Pseudobulbar affect

Late
Increased weakness
Unable to walk / talk / eat / drink
👉Labs
CBC, COMP, LFTs, CA, MAGNESIUM, PHOSPHATE, TFT, CPK, B-12, RA, SED RATE, Anti GM 1 antibody,
Urine / serum protein electrophoresis w immunofixation : abn, rx 24 hr Urine protein electrophoresis. r/o MM
Increase CPK
👉Primary hyperparathyroidism : if inc calcium.

👉50% mental or behavior problems
👉15% Fronto-temporal dementia
👉Survival : death 2-5 yrs, 10% 10 yrs
👉Bulbar onset ALS : worst prognosis, dysarthria➡️dysphagia➡️sialorrhea➡️malnutrition➡️anarthria

🚦MRI brain for bulbar.
🚦MRI C spine / MRI T / LS spine for extremities.

🚦r/o Lyme’s
🚦r/o HIV
🚦r/o Heavy metal screen: Lead,
🚦r/o MG labs in Bulbar/ ocular + S/S
🚦CSF: cytology, increase Neurofilament
🚦Rx: Riluzole, Edaravone, Non-invasive ventilator

 
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