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Charcot-Marie-Tooth Disorder Charcot-Marie-Tooth Disorder CMT is the most common type of hereditary motor and sensory neuropathy HMSN occurring in one of every 2500 births The mean age of onset of clinical symptoms is 122 73 years Severity of the disorder varies among the individual and among the subtypes of CMT Subtypes are distinguishable by testing the nerve conduction velocity NCV muscle biopsies and protein levels in cerebrospinal fluid Three different subtypes have been identified fittingly called CMT I CMT II and CMT III or Dejerine-Sottas disease Epstein 1993 CMT I shows a fully penetrant phenotype The onset of clinical symptoms is usually seen by the age of two Common features of this disorder include pes cavus a deformity of the foot characterized by an abnormally high arch and hyperextension of the toes which gives the foot a claw-like appearance and hammer toes As CMT progresses weakness and atrophy of leg muscles occur Areflexia occurs in the Achilles and patellar areas absence of reflex and later muscle degradation affects the intrinsic muscles in the hands CMT II has a similar clinical phenotype to CMT I but with a wider range of the age of onset and later appearance of symptoms There is also less involvement of hand muscles Dejerine-Sottas Syndrome DSS or CMT III is the rarest form of CMT This syndrome shares clinical electrophysiological and pathological findings of CMT I However the onset of DSS is generally during infancy and the symptoms are typically more severe The causes of CMT have been linked to autosomal dominant autosomal recessive x-linked and environmental means The largest number studies have been done on CMT-IA an autosomal dominant form the most common form of CMT It is often associated with a 15 megabase tandem duplication of the short arm of chromosome 17 17p12 found in approximately seventy percent of unrelated CMT I patients It is thought that this duplication is a result of unequal crossing-over between two chromosome
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