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...

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Bibliographic Details
Published in:Indian pediatrics 2015-03, Vol.52 (3), p.243-244
Main Authors: Khadilkar, Satish, Bhutada, A., Nallamilli, B., Hegde, M.
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Adrenergic beta-2 Receptor Agonists - therapeutic use
Albuterol - therapeutic use
Case Reports
Child
European Continental Ancestry Group - genetics
Female
Humans
India
Male
Maternal and Child Health
Medicine
Medicine & Public Health
Myasthenic Syndromes, Congenital - drug therapy
Myasthenic Syndromes, Congenital - physiopathology
Pediatric Surgery
Pediatrics
Siblings
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Summary: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.
ISSN:0019-6061
0974-7559
DOI:10.1007/s13312-015-0616-z