Published 2020-12-01
Keywords
- hereditary neuropathy with liability to pressure palsies,
- HNPP,
- tomaculous neuropathy,
- neurology
How to Cite
1.
Glass H, Srour M, Pari G, Karpati G, Snipes GJ. Progressive Limb Weakness and Sensory Loss in a Young Woman. McGill J Med [Internet]. 2020 Dec. 1 [cited 2025 Oct. 8];5(2). Available from: https://mjm.mcgill.ca/article/view/748

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
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.
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