Autosomal dominant Charcot-Marie-Tooth disease type 2O

Orpha code: 284232OMIM code: 614228

Definicja

A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.

Disease data
Klasyfikacja

Disease

Synonimy
CMT2O
CMT2O
Kod ORPHA
284232
Kod OMIM
614228
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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