Progressive Limb Weakness and Sensory Loss in a Young Woman

• Main Authors: Hannah Glass, Myriam Srour, Giovanna Pari, George Karpati, G. Jackson Snipes
• Format: Article
• Language: English
• Published: McGill University 2020-12-01
• Series: McGill Journal of Medicine
• Subjects: hereditary neuropathy with liability to pressure palsies; hnpp; tomaculous neuropathy; neurology
• Online Access: https://mjm.mcgill.ca/article/view/748
• ISSN: 1715-8125

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.