Limb girdle weakness responding to salbutamol: an Indian family with DOK7 mutation.

Abstract

Congenital Myasthenic Syndromes (CMS) are heterogeneous genetic diseases. 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. A trial of salbutamol produced a remarkable, consistent improvement. Mutation in exon 5 of the DOK7 gene was found in both siblings. Patients with congenital myasthenic syndrome with DOK 7 mutation benefit remarkably with salbutamol.