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

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 DOK 7 mutation benefit remarkably with salbutamol.