Autosomal dominant Charcot-Marie-Tooth disease type 2M

Orpha code: 228179OMIM code: 606482

Definicja

A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.

Disease data
Klasyfikacja

Disease

Synonimy
CMT2M
CMT2M
Kod ORPHA
228179
Kod OMIM
606482
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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