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Charcot-Marie-Tooth disease: genetic and rehabilitation aspects

Author(s): Mariana CEVEI | Dorina STOICANESCU

Journal: Analele Universitatii din Oradea, Fascicula Biologie
ISSN 1224-5119

Volume: TOM XV;
Start page: 27;
Date: 2008;
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Keywords: hereditary neuropathy | genetic heterogeneity | rehabilitation

Charcot-Marie-Tooth hereditary motor and sensory neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. Typical cases have distal muscle weakness and peroneal atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and pes cavus. Hereditary neuropathies are categorized by mode of inheritance and chromosomal locus. The diagnosis is based on family history, characteristic findings on physical examination, EMG, nerve conduction velocity testing, and occasionally on nerve biopsy. The disorder shows allelic and non-allelic genetic heterogeneity, thus mutations of different genes leading to the same clinical features. Also, different mutations of the same gene may lead to different phenotypes. Molecular genetic testing is available in clinical laboratories for diagnosis of 7 subtypes of the disease. Genetic counseling and risk assessment depend on the inheritance. We present two cases with Charcot-Marie-Tooth type 1 and type 2 respectively. There is no cure for the disorder, although physical therapy and moderate activity are often recommended to maintain muscle strength and endurance.
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