Autosomal dominant Charcot-Marie-Tooth disease type 2Q

Orpha code: 329258OMIM code: 615025

Definicja

A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.

Disease data
Klasyfikacja

Disease

Synonimy
CMT2Q
CMT2Q
Kod ORPHA
329258
Kod OMIM
615025
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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