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Limb girdle weakness responding to salbutamol: an Indian family with DOK7 mutation
S Khadilkar1, A Bhutada, B Nallamilli
1Department of Neurology, Grant Government Medical College and JJ Hospital, Mumbai, India and *Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, Georgia, 30322, USA. Correspondence to: Prof Satish Khadilkar, 110, New Wing, First Floor, Bombay Hospital, 12, New Marine Lines, Mumbai 400 020, India. khadilkarsatish@gmail.com.
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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