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Case Report

Vol. 5 No. 2 (1999)

Progressive Limb Weakness and Sensory Loss in a Young Woman

  • Hannah Glass
  • Myriam Srour
  • Giovanna Pari
  • George Karpati
  • G. Jackson Snipes
DOI
https://doi.org/10.26443/mjm.v5i2.748
Submitted
November 12, 2020
Published
2020-12-01

Abstract

Patients with neuromuscular disease often present with a combination of symptoms that suggest a wide differential diagnosis. Traditionally, electrophysiologic studies and microscopy have aided the clinician in making a diagnosis. More recently, genetic testing for specific diseases has helped to ensure correct diagnosis. The following is a case that emphasizes the importance of combining clinical, electrophysiologic, microscopic and finally, genetic findings.

References

  1. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103: 259- 280; 1980.
  2. Davies DM. Recurrent peripheral-nerve palsies in a family. Lancet 2: 266-268; 1954.
  3. Dyck PJ, Thomas PK, Lambert R, et al. (eds). Peripheral Neuropathy, 3rd edition. Toronto: W.B. Saunders Company; 1993.
  4. Behse F, Buchthal F, Carlsen F. Hereditary neuropathy with liability to pressure palsies: electrophysiological and histopathological aspects. Brain 95: 777-794; 1972.
  5. Nelson JS, Parisi JE, Schichet SS (eds.). Principles and Practice of Neuropathology, 3rd Edition. St. Louis: Mosby; 1993.
  6. Madrid R, Bradley WG, Davis CJF. The peroneal muscular atrophy syndrome. Journal of Neurological Sciences 32: 91-122; 1977.
  7. Malandrini A, Guazzi GC, Federico A. Sensori-motor polyneuropathy in two siblings: atypical presentation of tomaculous neuropathy. Clinical Neuropathology 11: 318-322; 1992.
  8. Nardelli E, Pizziguella S, Tridente G, Rizzuro N. Peripheral neuropathy associated with immunological disorders. An immunological and ultrastuctural study. Acta Neuropathologica suppl VII 258-261; 1981.
  9. Snipes GJ, Suter U, Welcher AA, Shooter EM. Characterization of a novel peripheral nervous system myelin protein (PMP- 22/SR13). Journal of Cell Biology 117: 225-38; 1982.
  10. Fabretti E, Edomi P, Brancolini C, Schneider C. Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A. Genes and Development 9: 1846-1856; 1995.
  11. Zoidl G, Blass-Kampmann S, D’Urso D, et al. Retroviral- mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth. The EMBO Journal 14: 1122-1128; 1995.
  12. Suter U, Moskow JJ, Welcher AA, et al. A leucine-to-proline mutation in the putative first transmembrane domain of the 22- kDa peripheral myelin protein in the trembler-J mouse. Proceedings of the National Academy of Sciences USA 89: 4382-4386; 1992.
  13. Adlkofer K, Martini R, Agussi A, et al. Hypermyelination and demyelinating peripheral neuropathy in pmp22-deficient mice. Nature Genetics 11: 274-280; 1995.
  14. Magyar JP, Martini R, Ruelicke T, et al. Impaired differentiation of Schwann cells in transgenic mice with increased PMP-22 gene dosage. Journal of Neuroscience 16: 5351-5360; 1996.
  15. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth’s disease. Clinical Genetics 6: 98-118; 1974.

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