Charcot-Marie-Tooth disease type 2B5

Orpha code: 228374OMIM code: 607734

Definicja

A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.

Disease data
Klasyfikacja

Disease

Synonimy
AR-CMT2B5
Ciężka neuropatia aksonalna o wczesnym początku z powodu niedoboru podjednostki lekkich neurofilamentów
Autosomal recessive Charcot-Marie-Tooth disease type 2B5
SEOAN due to NEFL deficiency
Severe early-onset axonal neuropathy due to NEFL deficiency
Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
Kod ORPHA
228374
Kod OMIM
607734
Kod ICD10
G60.0
Kod ICD11
8C20.1

No additional description.

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