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).
KeywordsDuchenne Dystrophy Myotonic Dystrophy Compound Muscle Action Potential Chronic Inflammatory Demyelinating Polyneuropathy Onion Bulb
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- 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
- 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
- 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
- 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
- 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
- 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