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.