Charcot-Marie-Tooth disease type 4D

Orpha code: 99950OMIM code: 601455

Definition

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
Classification

Disease

Synonyms
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
ORPHA code
99950
OMIM code
601455
ICD10 code
G60.0
ICD11 code
-

No additional description.

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