Charcot-Marie-Tooth disease type 2F (Q104256): Difference between revisions
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A doença de Charcot-Marie-Tooth autossômica dominante tipo 2F (CMT2F) é uma forma de doença de Charcot-Marie-Tooth axonal, uma neuropatia periférica sensitivomotora. A CMT2F é caracterizada por fraqueza simétrica que ocorre primariamente nos membros inferiores (músculos distais na maioria dos casos) e que acomete os braços somente após 5 a 10 anos, perda sensitiva ocasional predominantemente distal e redução dos reflexos tendinosos. CMT2F apresenta transtorno de marcha entre a 1ª e 6ª década e o início precoce está geralmente associado a um fenótipo mais grave que pode incluir pé caído. | |||
| description / en | description / en | ||
Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterised by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. | |||
Revision as of 10:07, 17 August 2026
Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterised by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1970894933 |
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| English | Charcot-Marie-Tooth disease type 2F |
Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterised by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. |
