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Congenital Muscular Dystrophies

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Neuromuscular Disorders

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Abstract

Congenital muscular dystrophies (CMDs) represent a large group of conditions characterised by progressive muscular weakness in early infantile period, elevated serum creatine kinase levels and dystrophic pattern on the muscle biopsy. These can be characterised on the basis of biochemical defects (disorders of glycosylation, defects of structural proteins, proteins of endoplasmic reticulum and of the nucleus). Neuromuscular and non-neuromuscular clinical features form an important part of the diagnostic evaluation. MRI of the muscles and brain and muscle immunocytochemistry can provide diagnostic information.

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Authors and Affiliations

  1. Department of Neurology, Bombay Hospital Institute of Medical Sciences, Mumbai, Maharashtra, India

    Satish V. Khadilkar

  2. Consultant Neurologist, Suyog Neurology Clinic, NH Multispeciality Hospital, Ahmedabad, Gujarat, India

    Rakhil S. Yadav

  3. Consultant Neurologist, TN Medical College and Nair Hospital, Mumbai, Maharashtra, India

    Bhagyadhan A. Patel

Authors
  1. Satish V. Khadilkar
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  2. Rakhil S. Yadav
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  3. Bhagyadhan A. Patel
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Khadilkar, S.V., Yadav, R.S., Patel, B.A. (2018). Congenital Muscular Dystrophies. In: Neuromuscular Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-10-5361-0_14

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  • DOI: https://doi.org/10.1007/978-981-10-5361-0_14

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-10-5360-3

  • Online ISBN: 978-981-10-5361-0

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