Charcot-Marie-Tooth disease type 4B2 (Q104665): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A doença de Charcot-Marie-Tooth tipo 4B2 (CMT4B2) é uma polineuropatia periférica sensitivomotora da CMT desmielinizante grave de início precoce com fraqueza muscular de início na infância, perda sensitiva, velocidades de condução nervosa reduzidas, desdobramentos de mielina característicos e um curso grave da doença. Além da neuropatia grave, os pacientes de algumas famílias com CMT4B2 também desenvolvem glaucoma de início precoce. | |||
| description / en | description / en | ||
Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy with childhood-onset of muscle weakness, sensory loss, reduced nerve conduction velocities, characteristic myelin outfoldings and a severe disease course. In addition to the severe neuropathy, patients from some CMT4B2 families also develop early-onset glaucoma. | |||
Revision as of 10:31, 17 August 2026
Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy with childhood-onset of muscle weakness, sensory loss, reduced nerve conduction velocities, characteristic myelin outfoldings and a severe disease course. In addition to the severe neuropathy, patients from some CMT4B2 families also develop early-onset glaucoma.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_393759720 |
||
| English | Charcot-Marie-Tooth disease type 4B2 |
Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy with childhood-onset of muscle weakness, sensory loss, reduced nerve conduction velocities, characteristic myelin outfoldings and a severe disease course. In addition to the severe neuropathy, patients from some CMT4B2 families also develop early-onset glaucoma. |
