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Media type:
E-Article
Title:
Rehabilitation in Charcot-Marie-Tooth disease type 1
Contributor:
Mannil, Manoj;
Kadian, Chandini;
Futterlieb, Elisabeth;
Sereda, Michael W
Published:
Whitehouse Publishing, 2014
Published in:
Advances in Clinical Neuroscience & Rehabilitation (2014)
Language:
Not determined
DOI:
10.47795/mmvg6026
ISSN:
1473-9348;
2397-267X
Origination:
Footnote:
Description:
<jats:p>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 17p11.2 [2,3]. A consecutive primary loss of the myelin sheath leads to secondary axonal degeneration. Characteristic clinical findings include distally pronounced muscle wasting, secondary skeletal deformities, sensory loss, and reduced deep tendon reflexes [4,5]. The individual clinical phenotypes vary, even among monozygotic twins [6]. They range from sub-clinical manifestations to rare cases of wheelchair-bound patients. Overall, the quality of life is significantly impaired [7]. Despite ongoing research, no curative treatments are currently available [8]. A recently published ascorbic acid trial showed no significant effect on the clinical phenotype of CMT1A patients [9,32,36]. Nevertheless, physical therapy and moderate exercises are proven to be positively disease-modifying. While a cure lies beyond the scope of physical therapy, it may prevent the rapid aggravation of the clinical phenotype [10,11,17]. Recent studies suggest that CMT patients experience physical as well as mental benefits from rehabilitation programmes, but they also perceive that the performed exercises were not specifically designed to their needs [11]. In fact, there is little evidence-based data and no common consensus on rehabilitation in patients suffering from Charcot-Marie-Tooth disease.</jats:p>