Choroba Charcota, Mariego i Tootha typu 4J

Kod Orpha: 139515Kod OMIM: 611228

Definicja

Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.

Dane
Klasyfikacja

Choroba

Synonimy
CMT4J
CMT4J
Kod ORPHA
139515
Kod OMIM
611228
Kod ICD10
G60.0
Kod ICD11
8C20.0

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