Charcot-Marie-Tooth disease type 2E (Q104269): Difference between revisions
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A doença de Charcot-Marie-Tooth autossômica dominante tipo 2E (CMT2E) é uma forma de doença de Charcot-Marie-Tooth axonal, uma neuropatia periférica sensitivomotora. O início do CMT2E ocorre na primeira à sexta década com um transtorno de marcha e uma fraqueza nas pernas que acomete os braços secundariamente. Os reflexos tendinosos estão reduzidos ou ausentes e, após anos, todos os pacientes apresentam pés cavos. Outros sinais podem estar presentes, incluindo perda auditiva e tremor postural. | |||
| description / en | description / en | ||
Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor. | |||
Revision as of 10:07, 17 August 2026
Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1476045360 |
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| English | Charcot-Marie-Tooth disease type 2E |
Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor. |
