Friedreich ataxia (Q41031): Difference between revisions
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Ataxia de Friedreich é uma ataxia autossômica recessiva caracterizada por dificuldade de coordenação de movimentos associada a sinais neurológicos (disartria, arreflexia, diminuição de sensibilidade profunda, pé cavo e escoliose), cardiomiopatia e as vezes diabetes mellitus. É devido a mutação do gene da frataxina. | |||
| description / en | description / en | ||
Friedreich ataxia is an autosomal recessive ataxia characterised by difficulties to coordinate movements, associated with neurological signs (dysarthria, loss of reflexes, decrease of deep sensation, pes cavus and scoliosis), cardiomyopathy and sometimes diabetes mellitus. It is due to a mutation in the frataxin gene. | |||
Revision as of 07:04, 13 August 2026
Friedreich ataxia is an autosomal recessive ataxia characterised by difficulties to coordinate movements, associated with neurological signs (dysarthria, loss of reflexes, decrease of deep sensation, pes cavus and scoliosis), cardiomyopathy and sometimes diabetes mellitus. It is due to a mutation in the frataxin gene.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A03.10 |
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| English | Friedreich ataxia |
Friedreich ataxia is an autosomal recessive ataxia characterised by difficulties to coordinate movements, associated with neurological signs (dysarthria, loss of reflexes, decrease of deep sensation, pes cavus and scoliosis), cardiomyopathy and sometimes diabetes mellitus. It is due to a mutation in the frataxin gene. |
