Orphanet: Autosomal recessive intermediate Charcot Marie Tooth disease type A

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Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

Disease definition

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.

ORPHA:217055

Classification level: Disorder

Synonym(s):
- RI-CMT type A
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Childhood
ICD-10: G60.0
OMIM: 608340
UMLS: C1842197
MeSH: -
GARD: 12453
MedDRA: -

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Clinical genetics review
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Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

ORPHA:217055

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