Results 61 to 70 of about 13,655 (181)

Rehabilitation in Charcot-Marie-Tooth disease type 1

Advances in Clinical Neuroscience & Rehabilitation, 2014
Charcot-Marie-Tooth disease is the most common inherited peripheral neuropathy with a prevalence of approximately 1 in 2,500 [1]. The most common subtype is the autosomal dominant type 1A, which is caused by an intrachromosomal duplication on chromosome ...
Manoj Mannil, Chandini Kadian, Elisabeth Futterlieb, Michael W Sereda   +3 more
doaj   +1 more source

X-Linked Charcot-Marie-Tooth Disease in 93 Patients

Pediatric Neurology Briefs, 2001
The clinical, electrophysiological and genetic features of 93 patients (41 males, 52 females) from 37 unrelated families with X-linked dominant Charcot-Marie-Tooth (CMTX) disease are reported from the Hopital de la Salpetriere, Paris, France.
J Gordon Millichap
doaj   +1 more source

Genetically confirmed Charcot–Marie–Tooth disease type 2A manifesting with postural tremor: a case report

Journal of Medical Case Reports
Background Charcot–Marie–Tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits ...
Salhadin Mohammed, Selam Kifelew, Fikru Tsehayneh, Abel Teklit Haile, Esrom Hagos Gebrehiwot   +4 more
doaj   +1 more source

Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy

Nature Communications, 2018
Charcot–Marie–Tooth disease 1A (CMT1A) is a peripheral demyelinating disease. Here, the authors demonstrate in a rodent model of CMT1A that Schwann cells have impairments in lipid biosynthesis, and that restoring lipids via diet can reverse the ...
R. Fledrich, T. Abdelaal, L. Rasch, V. Bansal, V. Schütza, B. Brügger, C. Lüchtenborg, T. Prukop, J. Stenzel, R. U. Rahman, D. Hermes, D. Ewers, W. Möbius, T. Ruhwedel, I. Katona, J. Weis, D. Klein, R. Martini, W. Brück, W. C. Müller, S. Bonn, I. Bechmann, K. A. Nave, R. M. Stassart, M. W. Sereda   +24 more
doaj   +1 more source

Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

Egyptian Journal of Medical Human Genetics, 2015
We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray analysis.
Alpa Sidhu, Michael Hankerd, Kelly Kennelly, Melissa Kristofice, Salah Ebrahim   +4 more
doaj   +1 more source

Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot–Marie–Tooth disease

Frontiers in Neurology
This report presents a case of Charcot–Marie–Tooth dominant intermediate D (CMTDID), a rare subtype of Charcot–Marie–Tooth disease, in a 52 years-old male patient. The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle
Gao-Hui Cao, Mei-Fang Zhao, Yi Dong, Liang-Liang Fan, Yi-Hui Liu, Yao Deng, Lu-Lu Tang   +6 more
doaj   +1 more source

Fly model causes neurological rethink

eLife, 2013
A Drosophila model for a neurological disorder called type 2B Charcot-Marie-Tooth disease reveals that it has its origins in a partial loss of function, rather than a gain of function, which points to the need for a new therapeutic approach.
Madhumala K Sadanandappa, Mani Ramaswami
doaj   +1 more source

Molecular Diagnosis of Charcot-Marie Tooth Disease

Pediatric Neurology Briefs, 2002
The frequency of mutations in certain genes in 153 unrelated patients with Charcot-Marie-Tooth disease (CMT) was determined by DNA sequencing before clinical testing at the Departments of Molecular and Human Genetics and Pediatrics, Baylor College of ...
J. Gordon Millichap
doaj   +1 more source

Rehabilitation issues in Charcot-Marie-Tooth disease

Journal of Pediatric Rehabilitation Medicine, 2016
Charcot Marie Tooth (CMT) disease is the most common hereditary sensorimotor neuropathy that has a slow onset. It presents usually in childhood, starting distally and from the lower limbs progressing to more proximal muscles.
Ozge Kenis-Coskun, Dennis J. Matthews
doaj   +1 more source

Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease

Case Reports in Cardiology, 2015
We report a case of a 53-year-old female presenting with a new-onset heart failure that was contributed secondary to noncompaction cardiomyopathy. The diagnosis was made by echocardiogram and confirmed by cardiac MRI.
Sherif Ali Eltawansy, Andrea Bakos, John Checton   +2 more
doaj   +1 more source