Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

Orpha code: 352670OMIM code: 615185

Definicja

A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.

Disease data
Klasyfikacja

Disease

Synonimy
CMTDIF
CMTDIF
Kod ORPHA
352670
Kod OMIM
615185
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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