X-linked Charcot-Marie-Tooth disease type 1

Orpha code: 101075OMIM code: 302800

Definicja

X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.

Disease data
Klasyfikacja

Disease

Synonimy
CMT1X
CMT1X
CMTX1
CMTX1
Kod ORPHA
101075
Kod OMIM
302800
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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