Abstract
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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Bell, C. D. and Conen, P. E. (1968), Histopathological changes in Duchenne muscular dystrophy. J. Neurol. Sci., 7, 529–44.
Becker, P. E. and Kiener, F. (1955), Eine neue X chromosale Muskel dystrophie. Arch. Psychiat. Nervenkr., 193, 427–48.
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.
Bradley, W. G., Jones, M. Z., Mussini, J. M. and Fawcett, P. R. W. (1978), Becker-type muscular dystrophy. Muscle Nerve, 1, 111–32.
Carpenter, S. and Karpati, G. (1979), Duchenne muscular dystrophy: plasma membrane loss initiated muscle cell necrosis unless it is repaired. Brain, 102, 147–61.
Coërs, C. and Tellerman-Toppet, N. (1977), Morphological changes of motor units in Duchenné s muscular dystrophy. Arch. Neurol., 34, 396–402.
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.
Crews, J., Kaiser, K. K. and Brooke, M. H. (1976), Muscle pathology of myotonia congenita. J. Neurol. Sci., 28, 449–57.
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.
Daniel, P. M. and Strich, S. J. (1964), Abnormalities in the muscle spindles in dystrophia myotonica. Neurology (Minneap.), 14, 310–16.
Dubowitz, V. and Brooke, M. H. (1973), Muscle Biopsy -A Modern Approach, W. B. Saunders, London.
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.
Engel, A. G. (1970), Acid maltase deficiency in adults. Brain, 93, 599–606.
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.
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.
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.
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.
Mahoney, M. J., Haseltine, F. P. and Hobbins, J. C. (1977), Prenatal diagnosis of Duchenne muscular dystrophy. New Engl. J. Med., 297, 968–73.
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.
Munsat, T. L. and Bradley, W. G. (1977), Serum creatine phosphokinase levels and prednisone-treated muscle weakness. Neurology (Minneap.), 27, 96–7.
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 Muscle
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.
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.
Rowland, L. P. (1980), Biochemistry of muscle membranes in Duchenne muscular dystrophy. Muscle Nerve, 3, 3–20.
Swash, M. (1972), The morphology and innervation of the muscle spindle in dystrophia myotonica. Brain, 95, 357–68.
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.
Swash, M. and Fox, K. P. (1975b), The fine structure of the spindle abnormality in myotonic dystrophy. Neuropath. Appl. Neurobiol., 1, 171–87.
Swash, M. and Fox, K. P. (1976), The pathology of the muscle spindle in Duchenne muscular dystrophy. J. Neurol. Sci., 29, 17–32.
Swash, M. and Schwartz, M. S. (1983), Normal muscle spindle morphology in myotonia congenita. Clin. Neuropathol., 2, 75–8.
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.
Tome, F. and Fardeau, M. (1980), Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol. (Berlin), 49, 85–7.
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.
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.
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.
Walton, J. N. and Nattrass, F. T. (1954), On the classification, natural history and treatment of the myopathies. Brain, 77, 169–231.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 1984 M. Swash and M. S. Schwartz
About this chapter
Cite this chapter
Swash, M., Schwartz, M.S. (1984). Muscular dystrophies. In: Biopsy Pathology of Muscle. Biopsy Pathology Series. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-3402-4_6
Download citation
DOI: https://doi.org/10.1007/978-1-4899-3402-4_6
Publisher Name: Springer, Boston, MA
Print ISBN: 978-0-412-24420-9
Online ISBN: 978-1-4899-3402-4
eBook Packages: Springer Book Archive