Limb Girdle Weakness Responding to Salbutamol: An Indian Family with DOK7 Mutation

作者：Khadilkar S^*; Bhutada A; Nallamilli B; Hegde M

来源：Indian Pediatrics, 2015, 52(3): 243-244.

DOI：10.1007/s13312-015-0616-z

• Congenital myasthenic syndrome
• Mutational analysis
• Treatment

Background: Congenital Myasthenic Syndromes (CMS) are heterogeneous genetic diseases. Case characteristics: Two siblings presented with progressive limb girdle weakness without significant fluctuations or ocular muscle weakness. Repetitive nerve stimulation showed a decremental response and there was no response to pyridostigmine therapy. Outcome: A trial of salbutamol produced a remarkable, consistent improvement. Mutation in exon 5 of the DOK7 gene was found in both siblings. Message: Patients with congenital myasthenic syndrome with DOK7 mutation benefit remarkably with salbutamol.

• 出版日期2015-3