Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

详细信息	查看全文 | 推荐本文 |

• 作者：I. Wargon^a ; ^{isabelle.wargon@psl.aphp.fr} ; P. Richard^b ; T. Kuntzer^c ; D. Sternberg^b ; S. Nafissi^d ; K. Gaudon^b ; A. Lebail^b ; S. Bauche^e ; D. Hantaï ; ^e ; E. Fournier^f ; B. Eymard^g ; T. Stojkovic^g
• 关键词：Congenital myasthenic syndrome ; COLQ ; Acetylcholinesterase ; Relapse ; Mutations
• 刊名：Neuromuscular Disorders
• 出版年：2012
• 期刊代码：203_09608966
• 类别：med
• 出版时间：April, 2012
• 卷：22
• 期：4
• 页码：318-324
• 文件大小：481 K

摘要

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 years. The mean age at the first examination was 19 years 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.