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

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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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Author information

Authors and Affiliations

  1. Department of Neurology, Grant Government Medical College and JJ Hospital, Mumbai, India

    Satish Khadilkar & A. Bhutada

  2. Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, Georgia, 30322, USA

    B. Nallamilli & M. Hegde

  3. Bombay Hospital, 110, New Wing, First Floor, 12, New Marine Lines, Mumbai, 400 020, India

    Satish Khadilkar

Authors
  1. Satish Khadilkar
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  2. A. Bhutada
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  3. B. Nallamilli
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  4. M. Hegde
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Corresponding author

Correspondence to Satish Khadilkar.

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Khadilkar, S., Bhutada, A., Nallamilli, B. et al. Limb girdle weakness responding to salbutamol: An Indian family with DOK7 mutation. Indian Pediatr 52, 243–244 (2015). https://doi.org/10.1007/s13312-015-0616-z

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  • DOI: https://doi.org/10.1007/s13312-015-0616-z

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