Charcot-Marie-Tooth disease


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Noun1.Charcot-Marie-Tooth disease - a form of neuropathy that can begin between childhood and young adulthood; characterized by weakness and atrophy of the muscles of the hands and lower legs; progression is slow and individuals affected can have a normal life span; inheritance is X-linked recessive or X-linked dominant
neuropathy - any pathology of the peripheral nerves
References in periodicals archive ?
In those with Charcot-Marie-Tooth disease, treatments include ankle-foot orthosis splinting, plantar fasciotomy, tendon transfers, and foot osteotomies.
Key words: Charcot-Marie-Tooth disease, CMT, HMSN, Genetics, Costa Rica.
A novel missense mutation in peripheral myelin protein-22 causes Charcot-Marie-Tooth disease. Chin Med J 2017;130:1779-84.
Acsadi, "Pediatric Charcot-Marie-Tooth Disease," Pediatric Clinics of North America, vol.
Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease. Eur J Phys Rehabil Med 2008;44:27-31.
Grandfather-of-five William, of North Shields, North Tyneside, said: "I have the genetic condition Charcot-Marie-Tooth disease - a neurological condition that causes muscle wasting.
The mum of three is one of 23,000 people in the UK who have the crippling Charcot-Marie-Tooth disease.
An inkling that fusion might be important for the normal muscle function came from research on two mitochondrial diseases: Autosomal Dominant Optical Atropy (ADOA) disease, and a type of Charcot-Marie-Tooth disease (CMT).
For more information and support visit www.cmt.org.uk AROUND 23,000 people in the UK are currently living with Charcot-Marie-Tooth disease, or CMT, and it affects hundreds of thousands more worldwide.
New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.
X-linked CMT (CMTX) is the 2nd most common form of demyelinating CMT after Charcot-Marie-Tooth disease type 1A and accounts for 10%-15% of all CMT cases (2).

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