Syndromes myasthéniques congénitaux

Congenital myasthenic syndromes (CMS) are rare genetic diseases characterised by dysfunction of the neuromuscular junction. Nearly 40 genes are currently known to be involved in CMS. When one of these genes is mutated, abnormalities in the affected protein lead to a defect in the transmission of nerve impulses, causing the disease to manifest itself. A distinction is made between congenital myasthenic syndromes: pre-synaptic, synaptic, post-synaptic or with a deficit in glycosylation, depending on which part of the neuromuscular junction is affected.

The various congenital myasthenic syndromes cause excessive fatigue and muscle weakness, which tends to worsen with effort and often fluctuates over the hours, increasing at the end of the day.

• ARGX-119-NIS-2301: Multicenter, multinational, natural history study in participants with DOK7 congenital myasthenic syndromes