Disease or Syndrome
Friedreich's ataxia
Subclass of:
Spinocerebellar Degeneration;
Mitochondrial Diseases
Definitions related to friedreich ataxia:
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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)NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.NCI ThesaurusU.S. National Cancer Institute, 2021
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Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes.GeneReviewsUniversity of Washington, 2021
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(friedreich's ataxia) Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include Difficulty walking; Muscle weakness; Speech problems; Involuntary eye movements; Scoliosis (curving of the spine to one side); Heart palpitations, from the heart disease which can happen along with Friedreich's ataxia. People with Friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy. NIH: National Institute of Neurological Disorders and StrokeMedlinePlusU.S. National Library of Medicine, 2021
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(friedreich's ataxia) Inherited disease with degenerative changes in the dorsal half of spinal cord and cerebellum; characterized by ataxia of extremities and trunk, speech impairment, and lateral curvature of the spine.CRISP ThesaurusNational Institutes of Health, 2006
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Friedreich ataxia (FA, FRDA, FRIEDREICH ATAXIA 1, OMIM# *229300) is an autosomal recessive ataxia resulting from a mutation of a gene locus on chromosome 9. The entity was first described in 1863 by Nikolaus Friedreich, a professor of medicine in Heidelberg, Germany.WebMD, 2019
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Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired...National Center for Advancing Translational Sciences
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