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Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
ORPHA:101102Classification level: Disorder
So far, it has been described in 13 members of a large Tunisian family.
Onset occurred during the first decade of life with progressive distal atrophy involving both the upper and lower limbs, associated with a mild pyramidal syndrome (brisk patellar and upper limb reflexes, absent ankle reflexes and unattainable plantar reflexes).
CMT2H is transmitted in an autosomal recessive manner and the disease-causing locus has been mapped to 8q13-21.1. This region contains the GDAP1 gene, which has been implicated in the demyelinating disease CMT4A, and in the axonal disease CMT4C4 or CMT2K (see these terms).
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