X-linked Charcot-Marie-Tooth disease type 2

Orpha code: 101076OMIM code: 302801

Definicja

X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.

Disease data
Klasyfikacja

Disease

Synonimy
CMTX2
CMT2X
CMTX2
Kod ORPHA
101076
Kod OMIM
302801
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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