Charcot-Marie-Tooth disease type 2B (Q104255): Difference between revisions
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A doença de Charcot-Marie-Tooth autossômica dominante tipo 2B (CMT2B) é uma forma grave de doença de Charcot-Marie-Tooth axonal, uma neuropatia periférica sensitivomotora. O início do CMT2B, na 2ª ou 3ª década, é caracterizado por ulcerações e infecções nos pés. A fraqueza simétrica e distal se desenvolve principalmente nas pernas, juntamente com uma grave perda sensitiva distal simétrica, os reflexos tendinosos estão reduzidos apenas nos tornozelos e as deformidades nos pés, incluindo pés cavos ou planos e dedos em martelo, aparecem na infância. | |||
| description / en | description / en | ||
Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterised by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. | |||
Revision as of 10:07, 17 August 2026
Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterised by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1425224652 |
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| English | Charcot-Marie-Tooth disease type 2B |
Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterised by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. |
