Friedreich disease

Friedreich disease
paramyoclonus multiplex.

Medical dictionary. 2011.

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  • 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

  • Friedreich's ataxia — Fried·reich s ataxia frēd rīks , frēt rīks n a recessive hereditary degenerative disease affecting the spinal column, cerebellum, and medulla, marked by muscular incoordination and twitching, and usu. becoming manifest in the adult Friedreich… …   Medical dictionary

  • Friedreich's ataxia — noun sclerosis of the posterior and lateral columns of the spinal cord; characterized by muscular weakness and abnormal gait; occurs in children • Syn: ↑herediatry spinal ataxia • Hypernyms: ↑ataxia, ↑ataxy, ↑dyssynergia, ↑motor ataxia * * *… …   Useful english dictionary

  • friedreich's disease — noun see friedreich s ataxia …   Useful english dictionary

  • Friedreich's ataxia — Autosomal recessive disorder caused by trinucleotide (GAA) repeats that, unlike those in Huntington s chorea and fragile X syndrome, are within an intron of the gene 25 that codes for frataxin, the protein deficient in the disease. The intra… …   Dictionary of molecular biology

  • Nikolaus Friedreich — (July 1, 1825, Würzburg 6 July 1882, Heidelberg) was a German pathologist and neurologist, and a third generation physician in the Friedreich family. His father was psychiatrist Johann Baptist Friedreich (1796 1862), and his grandfather was… …   Wikipedia

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  • Tay-Sachs disease — Infobox Disease Name = Tay Sachs disease Caption = DiseasesDB = 12916 ICD10 = ICD10|E|75|0|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = 272800 OMIM mult = OMIM2|272750 MedlinePlus = 001417 eMedicineSubj = ped eMedicineTopic = 3016 MeshID = D013661 Tay… …   Wikipedia

  • metabolic disease — ▪ pathology Introduction       any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… …   Universalium

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