Indian pediatrics · 2015
Limb girdle weakness responding to salbutamol: an Indian family with DOK7 mutation.
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Khadilkar S, Bhutada A, Nallamilli B, Hegde M
Аннотация
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.
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.