Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia.
Intern Med
; 58(19): 2865-2869, 2019 Oct 01.
Article
em En
| MEDLINE
| ID: mdl-31178521
ABSTRACT
Friedreich ataxia (FRDA) is an autosomal recessive spinocerebellar ataxia caused by mutations of FXN. Hypotonus and hyporeflexia of the lower extremities are observed in most FRDA patients. Patients with hyperreflexia, called Friedreich ataxia with retained reflexes (FARR), have also been identified. We herein report the case of a 16-year-old Nepalese boy presenting with early-onset ataxia with prominent spasticity and hyperreflexia of the legs. Mutational analyses established the diagnosis of FRDA presenting as FARR. A haplotype analysis revealed that expanded alleles of the patient shared a common haplotype with Indian and European FRDA patients, suggesting that the mutation descended from a common founder.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Ataxia de Friedreich
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Reflexo Anormal
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Espasticidade Muscular
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Humans
/
Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article