Skip to main content

Neuromuscular Disease

  • Chapter
Book cover Atlas of Clinical Neurology

Abstract

This chapter illustrates diseases that involve the peripheral nervous system and skeletal muscle. In such diseases, the history and physical examination frequently provide sufficient data to arrive at the correct diagnosis. For example, autonomic dysfunction, distal limb weakness, hyporeflexia, and sensory loss in an adult with long-standing diabetes mellitus are probably due to diabetic neuropathy, and fluctuating weakness of bulbar and ocular muscles without sensory or reflex alterations strongly suggests myasthenia gravis. The clinical diagnosis can often be validated by specific immunochemical, biochemical, or molecular blood tests (Fig. 11-1).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Hermann DN, Griffin JW, Hauer P, et al.: Epidermal nerve fiber density and sural nerve morphometry in peripheral neuropathies. Neurology 1999, 53:1634–1640.

    Article  Google Scholar 

  2. Asbury AK, Gilliatt RW: The Clinical Approach to Neuropathy. In Peripheral Nerve Disorders. Edited by Asbury AK, Gilliatt RW. London: Butterworths; 1994: 1–20.

    Google Scholar 

  3. Lennon VA, Kryzer TJ, Griesmann GE, et al.: Calcium channel antibodies in the Lambert-Eaton syndrome and other paraneoplastic syndromes. N Engl J Med 1995, 332:1467–1474.

    Google Scholar 

  4. Chaudhry V, Crawford TO: Stimulation single-fiber EMG in infant botulism. Muscle Nerve 1999, 22: 1698–1703.

    Article  PubMed  CAS  Google Scholar 

  5. Pasternak C, Wong S, Elson EL: Mechanical function of dystrophin in muscle cells. J Cell Biol 1995, 128: 355–361.

    Article  PubMed  CAS  Google Scholar 

  6. Chan YM, Bonnemann CG, Lidov HGM, Kunkel LM: Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol 1998, 143: 2033–2044.

    Article  PubMed  CAS  Google Scholar 

  7. Mahadevan M, Tsilfidis C, Sabourin L, et al.: Myotonic dystrophy mutation: an unstable CTG repeat in the 3’ untranslated region of the gene. Science 1992, 255:1253–1255.

    Google Scholar 

  8. Lieberman AP, Fischbeck KH: Triplet repeat expansion in neuromuscular disease. Muscle Nerve 2000, 23: 843–850.

    Article  PubMed  CAS  Google Scholar 

  9. DiMauro S, Bonilla E, Davidson M, et al.: Mitochondria in neuromuscular disorders. Biochim Biophys Acta 1998, 1366:199–210.

    Google Scholar 

  10. Laing NG, Wilton SD, Akkari PA, et al.: A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nature Genet 1995, 9:75–79.

    Google Scholar 

  11. Johnston JJ, Kelley RI, Crawford TO, et al.: A novel nemaline myopathy in the Amish caused by a mutation in troponin TL. Am J Hum Genet 2000, 67:814–821.

    Google Scholar 

  12. McCarthy TV, Quane KA, Lynch PJ: Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000, 15: 410–417.

    Article  PubMed  CAS  Google Scholar 

  13. Sigurgeirsson B, Lindelof B, Edhag O, Allander E: Risk of cancer in patients with dermatomyositis or polymyositis: a population-based study. N Engl J Med 1992, 326: 363–367.

    Article  PubMed  CAS  Google Scholar 

  14. Askanas V, Engel WK: Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis. Curr Opin Rheumatol 1998, 10: 530–542.

    Article  PubMed  CAS  Google Scholar 

  15. Adams D, Samuel D, Goulon-Goeau C, et al.: The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain 2000, 123:1495–1504.

    Google Scholar 

  16. Keller MP, Chance PF: Inherited neuropathies: from gene to disease. Brain Pathol 1999, 9: 327–341.

    Article  PubMed  CAS  Google Scholar 

  17. La Spada AR, Roling DB, Harding AE, et al.: Meiotic stability and genotype-phenotype correlation of the ‘trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet 1992, 2:301–304.

    Google Scholar 

  18. Pellizzoni L, Charroux B, Dreyfuss G: SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins. Proc Natl Acad Sci USA 1999, 96: 11167–111672.

    Google Scholar 

  19. Gurney ME, Liu R, Althaus JS, et al.: Mutant CuZn superoxide dismutase in motor neuron disease. J Inherit Metab Dis 1998; 21:587–597.

    Google Scholar 

  20. Peters A, Palay SL, Webster H deF: The Fine Structure of the Nervous System. New York: Oxford University Press; 1994.

    Google Scholar 

  21. Khella SL, Frost S, Hermann GA, et al.: Hepatitis C infection, cryoglobulinemia, and vasculitic neuropathy. Treatment with interferon alpha: case report and literature review. Neurology 1995, 45:407–411.

    Google Scholar 

  22. Rajkumar SV, Gertz MA, Kyle RA: Prognosis of patients with primary systemic amyloidosis who present with dominant neuropathy. Am J Med 1998, 104: 232–237.

    Article  PubMed  CAS  Google Scholar 

  23. Arroyo EJ, Scherer SS: On the molecular architecture of myelinated fibers. Histochem Cell Biol 2000, 113: 1–18.

    Article  PubMed  CAS  Google Scholar 

  24. Nobile-Orazio E, Meucci N, Baldini L, et al.: Long-term prognosis of neuropathy associated with anti-MAG IgM M-proteins and its relationship to immune therapies. Brain 2000, 123:710–717.

    Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2003 Springer Science+Business Media New York

About this chapter

Cite this chapter

Pleasure, D., Bird, S., Scherer, S., Sladky, J., Schotland, D. (2003). Neuromuscular Disease. In: Rosenberg, R.N. (eds) Atlas of Clinical Neurology. Current Medicine Group, London. https://doi.org/10.1007/978-1-4757-4552-8_11

Download citation

  • DOI: https://doi.org/10.1007/978-1-4757-4552-8_11

  • Publisher Name: Current Medicine Group, London

  • Print ISBN: 978-1-4757-4554-2

  • Online ISBN: 978-1-4757-4552-8

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics