Neurology

Amyotrophic lateral sclerosis (ALS): Charcot's disease

Understanding a rare neurodegenerative disease

Dr. Antoine Mercier

Neurologist

6 min read
Amyotrophic lateral sclerosis (ALS): Charcot's disease

Motor neuron involvement

ALS destroys central and peripheral motor neurons, leading to progressive paralysis of all voluntary muscles (limbs, swallowing, speech, breathing), while preserving cognitive, sensory, and sphincter functions.

Warning signs

Asymmetrical limb weakness, cramps, fasciculations (visible muscle twitching), speech disorders (dysarthria) or swallowing difficulties.

Diagnosis

Clinical + electromyography (EMG). Revised El Escorial criteria. Average diagnostic delay: 12 months.

Treatments

Riluzole: the only drug that moderately slows progression. Edaravone in some countries. Very active research: antisense (tofersen for SOD1 forms), gene therapies.

Supportive care

Essential multidisciplinary approach: physiotherapy, speech therapy, nutrition (gastrostomy), non-invasive ventilation, early palliative care. Median survival: 3-5 years, but 10% live >10 years.

#ALS#Charcot#neurodegenerative