Charcot-Marie-Tooth disease type 2P

Orpha code: 300319OMIM code: 614436

Definicja

Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.

Disease data
Klasyfikacja

Disease

Synonimy
CMT2P
CMT2P
Kod ORPHA
300319
Kod OMIM
614436
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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