Muscular dystrophies

  • Michael Swash
  • Martin S. Schwartz
Part of the Biopsy Pathology Series book series (BPS)


The muscular dystrophies are relatively uncommon inherited disorders of muscle. They are characterized by a progressive course and by degenerative changes in skeletal muscle fibres. Most begin in childhood but in others the disease is not recognized until adult life. Classification depends on clinical, genetic and histological criteria (Table 6.1). The childhood myopathies are, by convention, classified separately since these disorders are only very slowly progressive and they show only mild myopathic changes in the muscle, although there may be particular features in certain of these disorders.


Muscular Dystrophy Duchenne Dystrophy Muscle Spindle Duchenne Muscular Dystrophy Myotonic Dystrophy 
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  1. Bell, C. D. and Conen, P. E. (1968), Histopathological changes in Duchenne muscular dystrophy. J. Neurol. Sci., 7, 529–44.PubMedCrossRefGoogle Scholar
  2. Becker, P. E. and Kiener, F. (1955), Eine neue X chromosale Muskel dystrophie. Arch. Psychiat. Nervenkr., 193, 427–48.PubMedCrossRefGoogle Scholar
  3. Bodensteiner, J. B. and Engel, A. G. (1978), Intracellular calcium accumulation in Duchenne dystrophy and other myopathies: a study of 567,000 muscle fibres in 114 biopsies. Neurology (NY), 28, 439–46.CrossRefGoogle Scholar
  4. Bradley, W. G., Jones, M. Z., Mussini, J. M. and Fawcett, P. R. W. (1978), Becker-type muscular dystrophy. Muscle Nerve, 1, 111–32.PubMedCrossRefGoogle Scholar
  5. Carpenter, S. and Karpati, G. (1979), Duchenne muscular dystrophy: plasma membrane loss initiated muscle cell necrosis unless it is repaired. Brain, 102, 147–61.PubMedCrossRefGoogle Scholar
  6. Coërs, C. and Tellerman-Toppet, N. (1977), Morphological changes of motor units in Duchenné s muscular dystrophy. Arch. Neurol., 34, 396–402.PubMedCrossRefGoogle Scholar
  7. Coërs, C., Tellerman-Toppet, N. and Gerard, J.-M. (1973), Terminal innervation ratio in neuromuscular disease: disorders of lower motor neuron, peripheral nerve and muscle. Arch. Neurol., 29, 215–22.PubMedCrossRefGoogle Scholar
  8. Crews, J., Kaiser, K. K. and Brooke, M. H. (1976), Muscle pathology of myotonia congenita. J. Neurol. Sci., 28, 449–57.PubMedCrossRefGoogle Scholar
  9. Cullen, M. J. and Fulthorpe, J. J. (1975), Stages in fibre breakdown in Duchenne muscular dystrophy. An electromicroscopic study. J. Neurol. Sci., 24, 179–200.PubMedCrossRefGoogle Scholar
  10. Daniel, P. M. and Strich, S. J. (1964), Abnormalities in the muscle spindles in dystrophia myotonica. Neurology (Minneap.), 14, 310–16.CrossRefGoogle Scholar
  11. Dubowitz, V. and Brooke, M. H. (1973), Muscle Biopsy -A Modern Approach, W. B. Saunders, London.Google Scholar
  12. Emery, A. E. H. and Burt, D. E. (1980), Intracellular calcium and pathogenesis and antenatal diagnosis of Duchenne muscular dystrophy. Br. Med. J., 280, 355–7.PubMedCentralPubMedCrossRefGoogle Scholar
  13. Engel, A. G. (1970), Acid maltase deficiency in adults. Brain, 93, 599–606.PubMedCrossRefGoogle Scholar
  14. Engel, W. K. (1977), Integrative histochemical approach to the defect in muscular dystrophy. In Pathogenesis of Human Muscular Dystrophies (ed. L. P. Rowland ), Excerpta Medica, Amsterdam, pp. 277–309.Google Scholar
  15. Harper, P. S. (1982), Carrier detection in Duchenne muscular dystrophy: a critical assessment. In Disorders of the Motor Unit (ed. D. L. Schotland) Wiley Medical, New York, ch. 63, pp. 821–46, 847–60.Google Scholar
  16. Hudgson, P., Gardner-Medwin, D., Worsfold, M. et al. (1968), Adult myopathy from glycogen storage disease due to acid maltase deficiency. Brain, 91, 435–62.PubMedCrossRefGoogle Scholar
  17. Mabry, C. C., Rockel, I. E., Morwick, R. L. and Robertson, D. (1965), X linked pseudo hypertrophic muscular dystrophy with a late onset and slow progression. New Engl. J. Med., 273, 1062–70.PubMedCrossRefGoogle Scholar
  18. Mahoney, M. J., Haseltine, F. P. and Hobbins, J. C. (1977), Prenatal diagnosis of Duchenne muscular dystrophy. New Engl. J. Med., 297, 968–73.PubMedCrossRefGoogle Scholar
  19. Mokri, B. and Engel, A. G. (1975), Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fibre. Neurology (Minneap.), 25, 1111–20.Google Scholar
  20. Munsat, T. L. and Bradley, W. G. (1977), Serum creatine phosphokinase levels and prednisone-treated muscle weakness. Neurology (Minneap.), 27, 96–7.CrossRefGoogle Scholar
  21. Munsat, T. L., Piper, O., Canulla, P. and Mednik, J. (1972), Inflammatory myopathy with facio-scapulo-humeral distribution. Neurology (Minneap.), 22, 335–47. 116 Biopsy Pathology of MuscleGoogle Scholar
  22. Neerunjun, S. J. S. and Dubowitz, V. (1977), Concomitance of basophilia, ‘ribonucleic acid and acid phosphatase activity in regenerating muscle fibres. J. Neurol. Sci., 33, 95–109.PubMedCrossRefGoogle Scholar
  23. Ringel, S. P., Carroll, J. E. and Schold, S. C. (1977), The spectrum of mild X-linked recessive muscular dystrophy. Arch. Neurol., 34, 408–16.PubMedCrossRefGoogle Scholar
  24. Rowland, L. P. (1980), Biochemistry of muscle membranes in Duchenne muscular dystrophy. Muscle Nerve, 3, 3–20.PubMedCrossRefGoogle Scholar
  25. Swash, M. (1972), The morphology and innervation of the muscle spindle in dystrophia myotonica. Brain, 95, 357–68.PubMedCrossRefGoogle Scholar
  26. Swash, M. and Fox, K. P. (1975a), Abnormal intrafusal muscle fibres in myotonic dystrophy: a study using serial sections. J. Neurol. Neurosurg. Psychiatry, 38, 91–9.PubMedCrossRefGoogle Scholar
  27. Swash, M. and Fox, K. P. (1975b), The fine structure of the spindle abnormality in myotonic dystrophy. Neuropath. Appl. Neurobiol., 1, 171–87.CrossRefGoogle Scholar
  28. Swash, M. and Fox, K. P. (1976), The pathology of the muscle spindle in Duchenne muscular dystrophy. J. Neurol. Sci., 29, 17–32.PubMedCrossRefGoogle Scholar
  29. Swash, M. and Schwartz, M. S. (1983), Normal muscle spindle morphology in myotonia congenita. Clin. Neuropathol., 2, 75–8.PubMedGoogle Scholar
  30. Swash, M. Schwartz, M. S., Carter, N. D. et al. (1983), Benign X-linked myopathy with acanthocytes (McLeod syndrome)–its relationship to X-linked muscular dystrophy. Brain, 106, 717–34.PubMedCrossRefGoogle Scholar
  31. Tome, F. and Fardeau, M. (1980), Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol. (Berlin), 49, 85–7.CrossRefGoogle Scholar
  32. van Wijngaarden, G. K. and Bethlem, J. (1973), The facio-scapulo-humeral syndrome. In Clinical Studies in Myology (ed. B. A. Kakulas ), Exerpta Medica, Amsterdam, pp. 498–501.Google Scholar
  33. Walton, J. N. (1973), Progressive muscular dystrophy: structural alteration in various stages and in carriers of muscular dystrophy. In The Striated Muscle (ed. C. M. Pearson ), Williams and Wilkins, Baltimore, pp. 263–91.Google Scholar
  34. Walton, J. N. and Gardner-Medwin, D. (1981), Progressive muscular dystrophy and the myotonic disorders. In Disorders of Voluntary Muscle, 4th edn (ed. J. N. Walton), Churchill Livingstone, Edinburgh, pp. 481–524.Google Scholar
  35. Walton, J. N. and Nattrass, F. T. (1954), On the classification, natural history and treatment of the myopathies. Brain, 77, 169–231.PubMedCrossRefGoogle Scholar

Copyright information

© M. Swash and M. S. Schwartz 1984

Authors and Affiliations

  • Michael Swash
    • 1
    • 2
  • Martin S. Schwartz
    • 3
  1. 1.The London Hospital and St Mark’s HospitalLondonUK
  2. 2.Senior Lecturer in NeuropathologyThe London Hospital Medical CollegeLondonUK
  3. 3.St George’ Hospital (Atkinson Morley’s Hospital)LondonUK

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