P.072 Effects of self-directed exercise on strength in Charcot-Marie-Tooth disease subtypes

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Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...

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Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...

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Charcot-Marie-Tooth disease subtypes and genetic testing strategies.

OBJECTIVE Charcot-Marie-Tooth disease (CMT) affects 1 in 2,500 people and is caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is often necessary for family planning, natural history studies, and for entry into clinical trials. However genetic testing can be both expensive and confusing to patients and physicians. METHODS We analyzed data from 1,024 of our patien...

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Charcot–Marie–Tooth disease: Genetics, epidemiology and complications

Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this w...

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Update on Charcot-Marie-Tooth disease.

PURPOSE OF REVIEW Charcot-Marie-Tooth disease (CMT) is the common terminology used to describe the hereditary neuropathies. This update reviews advances in the past year in our understanding of these diseases, including some important earlier references. RECENT FINDINGS In the past year, advances in next-generation sequencing continued to increase the number of genes associated with CMT. The ...

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ژورنال

عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

سال: 2017

ISSN: 0317-1671,2057-0155

DOI: 10.1017/cjn.2017.156