Article
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.
Neurology - 8 May 2018
Kanhangad Manoj, Cornett Kayla, Brewer Megan H, Nicholson Garth A, Ryan Monique M, Smith Robert L, Subramanian Gopinath M, Young Helen K, Züchner Stephan, Kennerson Marina L, Burns Joshua, Menezes Manoj P
Abstract excerpt
OBJECTIVE: To describe in detail the clinical profile of Charcot-Marie-Tooth disease subtype 3 (CMTX3) to aid appropriate genetic testing and rehabilitative therapy. METHODS: We reviewed the clinical and neurophysiologic profile and CMT Pediatric Scale (CMTPedS) assessments of 11 children with CMTX3. RESULTS: Compared with the more common forms of CMT, CMT1A and CMTX, CMTX3 was characterized by early onset with...
Topics
- Adolescent
- Australia
- Case-Control Studies
- Charcot-Marie-Tooth Disease
- Child
- Child, Preschool
- Cohort Studies
- Connexins
- Family Health
- Female
- Genetic Testing