Charcot-Marie-Tooth disease type 2L (Q104257): Difference between revisions
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A doença de Charcot-Marie-Tooth autossômica dominante tipo 2L (CMT2L) é uma forma de doença de Charcot-Marie-Tooth axonal, uma neuropatia periférica sensitivomotora. Na única família em que foi relatada até o momento, o início da CMT2L ocorre entre 15 e 33 anos. Os pacientes apresentam fraqueza distal simétrica das pernas e ocasionalmente das mãos, reflexos tendinosos ausentes ou reduzidos, perda sensitiva distal das pernas e frequentemente pés cavos. A progressão é lenta. | |||
| description / en | description / en | ||
Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. | |||
Revision as of 10:07, 17 August 2026
Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1592118409 |
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| English | Charcot-Marie-Tooth disease type 2L |
Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. |
