Charcot-Marie-Tooth disease type 4B2

Orpha code: 99956OMIM code: 604563

Definicja

Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.

Disease data
Klasyfikacja

Disease

Synonimy
CMT4B2
CMT4B2
Kod ORPHA
99956
Kod OMIM
604563
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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