Progressive Limb Weakness and Sensory Loss in a Young Woman
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 ens...
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| Format: | Article |
| Language: | English |
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McGill University
2020-12-01
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| Series: | McGill Journal of Medicine |
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| Online Access: | https://mjm.mcgill.ca/article/view/748 |
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Article |
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doaj-cc74209db2f646e9800268a8754d2d722021-01-22T03:36:19ZengMcGill UniversityMcGill Journal of Medicine1715-81252020-12-015210.26443/mjm.v5i2.748963Progressive Limb Weakness and Sensory Loss in a Young WomanHannah GlassMyriam SrourGiovanna PariGeorge KarpatiG. Jackson SnipesPatients 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.https://mjm.mcgill.ca/article/view/748hereditary neuropathy with liability to pressure palsieshnpptomaculous neuropathyneurology |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Hannah Glass Myriam Srour Giovanna Pari George Karpati G. Jackson Snipes |
| spellingShingle |
Hannah Glass Myriam Srour Giovanna Pari George Karpati G. Jackson Snipes Progressive Limb Weakness and Sensory Loss in a Young Woman McGill Journal of Medicine hereditary neuropathy with liability to pressure palsies hnpp tomaculous neuropathy neurology |
| author_facet |
Hannah Glass Myriam Srour Giovanna Pari George Karpati G. Jackson Snipes |
| author_sort |
Hannah Glass |
| title |
Progressive Limb Weakness and Sensory Loss in a Young Woman |
| title_short |
Progressive Limb Weakness and Sensory Loss in a Young Woman |
| title_full |
Progressive Limb Weakness and Sensory Loss in a Young Woman |
| title_fullStr |
Progressive Limb Weakness and Sensory Loss in a Young Woman |
| title_full_unstemmed |
Progressive Limb Weakness and Sensory Loss in a Young Woman |
| title_sort |
progressive limb weakness and sensory loss in a young woman |
| publisher |
McGill University |
| series |
McGill Journal of Medicine |
| issn |
1715-8125 |
| publishDate |
2020-12-01 |
| description |
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. |
| topic |
hereditary neuropathy with liability to pressure palsies hnpp tomaculous neuropathy neurology |
| url |
https://mjm.mcgill.ca/article/view/748 |
| work_keys_str_mv |
AT hannahglass progressivelimbweaknessandsensorylossinayoungwoman AT myriamsrour progressivelimbweaknessandsensorylossinayoungwoman AT giovannapari progressivelimbweaknessandsensorylossinayoungwoman AT georgekarpati progressivelimbweaknessandsensorylossinayoungwoman AT gjacksonsnipes progressivelimbweaknessandsensorylossinayoungwoman |
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1724329282885386240 |