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Charcot-Marie-Tooth Disease 1X Simulating Paraparetic Guillain-Barre Syndrome.
Parissis D, Ioannidis P, Papadopoulos G, Karacostas D. Parissis D, et al. Neurologist. 2017 Nov;22(6):234-236. doi: 10.1097/NRL.0000000000000143. Neurologist. 2017. PMID: 29095325
X-linked Charcot-Marie-Tooth disease (CMT 1X) is the second most common form of inherited demyelinating neuropathy. ...The patient's phenotype was compatible with CMT disease and within hours he showed remarkable improvement of his muscle streng …
X-linked Charcot-Marie-Tooth disease (CMT 1X) is the second most common form of inherited demyelinating neuropat …
Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation.
Srinivasan J, Leventer RJ, Kornberg AJ, Dahl HH, Ryan MM. Srinivasan J, et al. Pediatr Neurol. 2008 Apr;38(4):293-5. doi: 10.1016/j.pediatrneurol.2007.12.003. Pediatr Neurol. 2008. PMID: 18358413
Episodic central nervous system symptoms in X-linked Charcot-Marie-Tooth disease may be triggered by illness, dehydration, physical exercise, or exposure to altitude. We describe a child with transient episodes of hemiplegia after simple hyperventil …
Episodic central nervous system symptoms in X-linked Charcot-Marie-Tooth disease may be triggered by illness, de …
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders.
Ghosh PS, Friedman NR, Ghosh D. Ghosh PS, et al. J Child Neurol. 2012 Dec;27(12):1602-6. doi: 10.1177/0883073812437242. Epub 2012 Feb 28. J Child Neurol. 2012. PMID: 22378661
He was initially diagnosed with Charcot Marie Tooth disease type 1A based on family history and genetic testing. However, severe mental impairment was atypical of Charcot Marie Tooth disease type 1A. Over the next few years …
He was initially diagnosed with Charcot Marie Tooth disease type 1A based on family history and genetic testing. …