Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

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Name:
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Description:
A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
ORPHAcode:
217055
Synonyms:
RI-CMT type A
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14