Friedreich ataxia

Friedreich ataxia
an autosomal recessive disorder, usually beginning before adolescence, with sclerosis of the posterior and lateral columns of the spinal cord. It is attended by ataxia, speech impairment, lateral curvature of the vertebral column, and peculiar swaying and irregular movements, with paralysis of the muscles, especially of the lower limbs, and a high-arched foot. It is often associated with hypertrophic cardiomyopathy. In most cases, it is a triplet repeat disorder associated with amplification of a GAA triplet repeat sequence in the first intron of the FXN gene (locus: 9q13), which encodes frataxin. Called also hereditary a.

Medical dictionary. 2011.

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  • Friedreich ataxia etc. — Fried·reich ataxia, etc. (frēdґrīk) [Nikolaus Friedreich, German physician, 1825–1882] see under ataxia, foot, and sign, and see paramyoclonus multiplex …   Medical dictionary

  • Friedreich's ataxia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 4980 ICD10 = ICD10|G|11|1|g|10 ICD9 = ICD9|334.0 ICDO = OMIM = 229300 MedlinePlus = eMedicineSubj = neuro eMedicineTopic = 139 MeshID = D005621 Friedreich s ataxia is an inherited disease… …   Wikipedia

  • ataxia — ataxic, adj. /euh tak see euh/, n. Pathol. loss of coordination of the muscles, esp. of the extremities. Also, ataxy /euh tak see, a tak /. Cf. tabes dorsalis. [1605 15; < NL < Gk: indiscipline, equiv. to a A 6 + táx(is) TAXIS + ia IA] * * *… …   Universalium

  • ataxia de Friedreich — Eng. Friedreich ataxia Ver síndrome de Friedreich …   Diccionario de oftalmología

  • Ataxia — Saltar a navegación, búsqueda Ataxia Clasificación y recursos externos CIE 10 R27.0 CIE 9 781.3 MeSH D001259 La ataxia (del …   Wikipedia Español

  • Ataxia de Friedreich — Saltar a navegación, búsqueda Ataxia de Friedreich Clasificación y recursos externos Aviso médico CIE 10 …   Wikipedia Español

  • Ataxia (disambiguation) — Ataxia can mean: *Ataxia, is unsteady and clumsy motion of the limbs or trunk due to a failure of the gross coordination of muscle movements. This includes cerebellar , sensory , and vestibular ataxia. The word ataxia is also part of the name of… …   Wikipedia

  • Friedreich familial ataxia — Friedreich familial ataxia. См. семейная атаксия Фридрейха. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • ataxia de Friedreich — Trastorno caracterizado por debilidad muscular, pérdida del control muscular, debilidad de las extremidades inferiores y marcha anormal. La característica patológica principal de la enfermedad es la pronunciada esclerosis de las columnas poster …   Diccionario médico

  • ataxia hereditaria — Grupo de enfermedades hereditarias degenerativas de la médula espinal, cerebelo y, a menudo, de otras partes del sistema nervioso central, caracterizadas por temblor, espasmo, atrofia muscular, cambios esqueléticos y alteraciones sensitivas, que… …   Diccionario médico

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