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Congenital Myopathies

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Atlas of Skeletal Muscle Pathology

Part of the book series: Current Histopathology ((CUHI,volume 9))

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Abstract

The congenital myopathies are a group of neuromuscular disorders presenting early in childhood, but frequently showing static or only slowly progressive muscle weakness. They are often familial but quite distinct from both the progressive muscular dystrophies and the severely disabling spinal muscular atrophies. Congenital myopathies are characterized by histochemical type 1 fibre predominance and by a variety of peculiar structural changes within the fibre, upon which nomenclature and classification are based. The pathological changes have suggested a common pathogenesis of maturation arrest. Amongst these early onset myopathies there are several, if not many, different nosological entities, but they show considerable clinical and pathological overlap. Although usually of childhood onset, identical histology is occasionally found in an adult onset myopathy. Thus a problem of terminology and which disorders to include can perhaps be solved by borrowing Brooke’s title of ‘Congenital (more or less) muscle diseases’1. The myopathies described in this chapter all have distinctive morphological features, but whilst they may be suspected clinically they can only be identified with certainty by biopsy.

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  1. Department of Morbid Anatomy and Histopathology, Addensbrooke’s Hospital, Cambridge, UK

    Janice R. Anderson (Consultant Histopathologist)

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© 1985 Janice R. Anderson

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Anderson, J.R. (1985). Congenital Myopathies. In: Atlas of Skeletal Muscle Pathology. Current Histopathology, vol 9. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-4866-2_12

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  • DOI: https://doi.org/10.1007/978-94-009-4866-2_12

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-8653-0

  • Online ISBN: 978-94-009-4866-2

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