Limb Girdle Weakness Responding to Salbutamol: An Indian Family with DOK7 Mutation.
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Date
2015-03
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Abstract
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.
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Keywords
Congenital myasthenic syndrome, Mutational analysis, Treatment
Citation
Khadilkar S, Bhutada A, Nallamilli B, Hegde M. Limb Girdle Weakness Responding to Salbutamol: An Indian Family with DOK7 Mutation. Indian Pediatrics. 2015 Mar; 52(3): 243-244.