Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.

ABSTRACT: Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur during childhood, adult neurologists must confront this challenging diagnosis and manage these patients throughout their adulthood. However, long-term follow-up data from large cohorts of CMS patients are lacking, and the long-term prognosis of these patients is largely unknown. We report the clinical features, diagnostic difficulties, and long-term prognosis of a French nationwide cohort of 235 adult patients with genetically confirmed CMS followed in 23 specialized neuromuscular centres. Data were retrospectively analysed. Of the 235 patients, 123 were female (52.3%). The diagnosis was made in adultho

SUBMITTER: Theuriet J 

PROVIDER: S-EPMC11531845 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature