Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom.

ABSTRACT:

Introduction/aims

Congenital myasthenic syndromes (CMS) are often underdiagnosed due to phenotypic overlap with other neuromuscular disorders. Limited epidemiological data and low awareness hinder early diagnosis, which is key for effective treatment. Early recognition of CMS is important as symptomatic treatments often specific for genetic subtypes exist and emerging therapies are in the pipeline. This study aims to estimate the prevalence of genetically confirmed CMS in the United Kingdom and explore geographical variations.

Methods

Prevalence was calculated as of 31 December 2023, including genetically confirmed CMS patients residing in the United Kingdom and known to be alive. Patients with missing geographic or living status data were excluded. Prevalence was estimated

SUBMITTER: Rossini E 

PROVIDER: S-EPMC12690014 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature