Amyotrophic Lateral Sclerosis


Aetiology : unknown (genetic and environmental)

Prevalence : 1/20 000 inhabitants (mainly between 50 and 70 years old)

Genetic risk factor : SOD1, C9ORF72, TARDBP, FUS/TLS... (with 10% of hereditary cases)


Main clinical forms :

Limb onset (most typical form – 70%) : Characterized by weakness in limbs, muscles atrophy, slowness, cramps,

Bulbar onset (25%) : Characterized by speech and swallowing difficulties : dysphagia, dysarthria, facial and jaw weakness.

Less common presentations : truncal-abdominal (axial) involvement at onset, respiratory involvement at onset, weight loss, fasciculations and cramps

à Most of the time, paralysis begins to affect respiratory muscles, leading to death within three to five years after diagnosis.


Treatment :

Currently, the available treatments are only symptomatic or palliative but not curative : extend survival by only 3-6 months after 18 months of treatment

Riluzole is the only treatment of reference in Europe.