Charcot-Marie-Tooth disease type 4D

Orpha code: 99950OMIM code: 601455

Definicja

Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.

Disease data
Klasyfikacja

Disease

Synonimy
CMT4D
CMT4D
Dziedziczna neuropatia ruchowa i czuciowa, typ Loma
HMSN, typ Loma
HMSN-Lom
HMSN, Lom type
HMSN-Lom
Hereditary motor and sensory neuropathy, Lom type
Kod ORPHA
99950
Kod OMIM
601455
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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