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Friedreich Ataxia

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Spinocerebellar Degenerations ∟ Friedreich Ataxia 11 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Myoclonic Cerebellar Dyssynergia \| ∟ Olivopontocerebellar Atrophies \| ∟ Spinocerebellar Ataxias Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Cerebellar Diseases ∟ Spinocerebellar Degenerations ∟ Friedreich Ataxia 11 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Myoclonic Cerebellar Dyssynergia \| ∟ Olivopontocerebellar Atrophies \| ∟ Spinocerebellar Ataxias Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Spinal Cord Diseases ∟ Spinocerebellar Degenerations ∟ Friedreich Ataxia 11 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Myoclonic Cerebellar Dyssynergia \| ∟ Olivopontocerebellar Atrophies \| ∟ Spinocerebellar Ataxias Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Spinocerebellar Degenerations ∟ Friedreich Ataxia 11 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Myoclonic Cerebellar Dyssynergia \| ∟ Olivopontocerebellar Atrophies \| ∟ Spinocerebellar Ataxias Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Mitochondrial Diseases ∟ Friedreich Ataxia 11 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Autosomal Dominant \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Myoclonic Cerebellar Dyssynergia \| ∟ Olivopontocerebellar Atrophies \| ∟ Spinocerebellar Ataxias X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Spinocerebellar Degenerations ∟ Friedreich Ataxia Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Cerebellar Diseases ∟ Spinocerebellar Degenerations ∟ Friedreich Ataxia Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Spinal Cord Diseases ∟ Spinocerebellar Degenerations ∟ Friedreich Ataxia Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Spinocerebellar Degenerations ∟ Friedreich Ataxia Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Mitochondrial Diseases ∟ Friedreich Ataxia Spinocerebellar Degenerations > Heredodegenerative Disorders, Nervous System > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Spinocerebellar Degenerations > Cerebellar Diseases > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Spinocerebellar Degenerations > Spinal Cord Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Spinocerebellar Degenerations > Heredodegenerative Disorders, Nervous System > Neurodegenerative Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Mitochondrial Diseases > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
historyNote*:	2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999 X
publicMeSHNote*:	2000; see FRIEDREICH'S ATAXIA 1966-1999; for FRIEDREICH'S DISEASE see MYOCLONUS 1997-1999 X
Scope note:	An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75) X
activeMeSHYear*:	2002 \| 2003 \| 2004 \| 2005 \| 2006 \| 2007X
dateCreated*:	1999-01-01X
dateRevised*:	2001-07-25X
recordAuthorizer*:	sjnX
recordMaintainer*:	nnsX
recordOriginator*:	NLMX
Type:	Concept X
Coordinate terms:	Carbamoyl-Phosphate Synthase I Deficiency Disease \| Cytochrome-c Oxidase Deficiency \| Leigh Disease \| Mitochondrial Myopathies \| Optic Atrophy, Autosomal Dominant \| Optic Atrophy, Hereditary, Leber \| Pyruvate Carboxylase Deficiency Disease \| Pyruvate Dehydrogenase Complex Deficiency Disease \| Myoclonic Cerebellar Dyssynergia \| Olivopontocerebellar Atrophies \| Spinocerebellar Ataxias X
URI:	X
Labels and equivalent concepts:	Friedreichin ataksia (fi) Hereditary Spinal Ataxia, Friedreich (en, replaced) Friedreich's Hereditary Spinal Ataxia (en, replaced) Friedreich's Hereditary Ataxia (en, replaced) Friedreich's Familial Ataxia (en, replaced) Hereditary Spinal Ataxia, Friedreich's (en, replaced) Hereditary Spinal Sclerosis (en, replaced) Sclerosis, Hereditary Spinal (en, replaced) Friedreich's Disease (en, replaced) Friedreich's Ataxia (en, replaced) Freidreich's Ataxia (en, replaced) Friedreich Disease (en, replaced) Friedreich Familial Ataxia (en, replaced) Friedreich Spinocerebellar Ataxia (en, replaced) Friedreich Hereditary Spinal Ataxia (en, replaced) Friedreich Hereditary Ataxia (en, replaced) Ataxia de Friedreich (es) αταξία Friedreich (el) Friedreich-Ataxie (de) Friedreichova ataxie (cs) Esclerosis Espinal Hereditaria (es, replaced) Enfermedad de Friedreich (es, replaced) Sklerose, hereditäre, spinale (de, replaced) Hereditäre spinale Sklerose (de, replaced) Friedreich-Krankheit (Ataxie) (de, replaced) X
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