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Disease Friedreich Ataxia

Name Friedreich Ataxia
Synonyms Ataxia, Friedreich | Ataxia, Friedreich Familial | Ataxia, Friedreich Hereditary | Ataxia, Friedreich's | Ataxia, Friedreich's Familial | Ataxia, Friedreich's Hereditary | Ataxia, Friedreich Spinocerebellar | Ataxias, Friedreich | Ataxias, Friedreich's Hereditary | Disease, Friedreich | Disease, Friedreich's | Familial Ataxia, Friedreich | Familial Ataxia, Friedreich's | Friedreich Ataxias | Friedreich Disease | Friedreich Familial Ataxia | Friedreich Hereditary Ataxia | Friedreich Hereditary Spinal Ataxia | Friedreich's Ataxia | Friedreich's Disease | Friedreich's Familial Ataxia | Friedreichs Familial Ataxia | Friedreich's Hereditary Ataxia | Friedreichs Hereditary Ataxia | Friedreich's Hereditary Ataxias | Friedreich's Hereditary Spinal Ataxia | Friedreich Spinocerebellar Ataxia | Hereditary Ataxia, Friedreich | Hereditary Ataxia, Friedreich's | Hereditary Ataxias, Friedreich's | Hereditary Spinal Ataxia, Friedreich | Hereditary Spinal Ataxia, Friedreich's | Hereditary Spinal Scleroses | Hereditary Spinal Sclerosis | Scleroses, Hereditary Spinal | Sclerosis, Hereditary Spinal | Spinal Scleroses, Hereditary | Spinal Sclerosis, Hereditary | Spinocerebellar Ataxia, Friedreich
Definition 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)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D005621
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Cerebellar Diseases Has associated chemicals Has associated genes Spinocerebellar Degenerations Has associated chemicals Has associated genes Friedreich Ataxia Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Spinal Cord Diseases Has associated chemicals Has associated genes Has associated exposure references Spinocerebellar Degenerations Has associated chemicals Has associated genes Friedreich Ataxia Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Spinocerebellar Degenerations Has associated chemicals Has associated genes Friedreich Ataxia Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Spinocerebellar Degenerations Has associated chemicals Has associated genes Friedreich Ataxia Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Mitochondrial Diseases Has associated chemicals Has associated genes Friedreich Ataxia Has associated chemicals Has associated genes

Top ↑ Descendants

Friedreich Ataxia Has associated chemicals Has associated genes
  Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined
  Friedreich Ataxia 1 Has associated chemicals Has associated genes
  Friedreich Ataxia 2 Has associated genes
  Friedreich ataxia congenital glaucoma
  Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
  Friedreich Ataxia with Retained Reflexes