Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

Orpha code: 435998OMIM code: 616039

Definition

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.

Disease data
Classification

Disease

Synonyms
RI-CMT type D
RI-CMT typu D
ORPHA code
435998
OMIM code
616039
ICD10 code
G60.0
ICD11 code
-

No additional description.

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