title: Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
abstract: 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.
authors.affiliation: AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Bâtiment Lhermitte, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-S975, Paris, France. isabelle.wargon@psl.aphp.fr
authors.forename: I
authors.initials: I
authors.lastname: Wargon
authors.forename: P
authors.initials: P
authors.lastname: Richard
authors.forename: T
authors.initials: T
authors.lastname: Kuntzer
authors.forename: D
authors.initials: D
authors.lastname: Sternberg
authors.forename: S
authors.initials: S
authors.lastname: Nafissi
authors.forename: K
authors.initials: K
authors.lastname: Gaudon
authors.forename: A
authors.initials: A
authors.lastname: Lebail
authors.forename: S
authors.initials: S
authors.lastname: Bauche
authors.forename: D
authors.initials: D
authors.lastname: Hantaï
authors.forename: E
authors.initials: E
authors.lastname: Fournier
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: T
authors.initials: T
authors.lastname: Stojkovic
mesh_terms: D000110:Acetylcholinesterase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000235:genetics* / Q000378:metabolism; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D012008:Recurrence; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D009124:Muscle Proteins; D003094:Collagen; D000110:Acetylcholinesterase; C114027:COLQ protein, human