Article: article from journal or magazin.
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COlQ) cause recessive forms of synaptic CMS with end plate AChE deficiency. We present data on 15 COLQ -mutant CMS carrying 16 different mutations (9 novel ones identified) followed-up for an average period of 10 ears. The mean age at the first examination was 19 ears old (range from 3 to 48). We report relapses during short or long-term periods characterized by worsening of muscle weakness sometimes associated with respiratory crises. All the relapses ended spontaneously or with 3-4 DAP or ephedrine with no residual impairment. The triggering factors identified were esterase inhibitors, effort, puberty or pregnancy highlighting the importance of hormonal factors. There was no genotype-phenotype correlation. At the end of the follow-up, 80% of patients were ambulant and 87% of patients had no respiratory trouble in spite of severe relapses.
Acetylcholinesterase/deficiency, Acetylcholinesterase/genetics, Adolescent, Adult, Child, Child, Preschool, Collagen/genetics, Collagen/metabolism, Disease Progression, Female, Follow-Up Studies, Genetic Association Studies, Humans, Male, Middle Aged, Muscle Proteins/genetics, Muscle Proteins/metabolism, Mutation/genetics, Myasthenic Syndromes, Congenital/diagnosis, Myasthenic Syndromes, Congenital/genetics, Phenotype, Recurrence, Treatment Outcome, Young Adult
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