Friedreich's Ataxia


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Friedreich’s Ataxia

 

a hereditary disease marked by slowly progressing ataxia due to sclerosis of the dorsal and lateral columns of the spinal cord and hypoplasia of the cerebellum and spinal cord. The disease was first described by N. Friedreich in 1861.

Inheritance is of the autosomal or, less commonly, autosomal dominant type. The disease usually becomes manifest between the ages of seven and 13. Besides ataxia, it is attended by disappearance of tendon reflexes, lack of responsiveness to stimulation, dysarthria, muscular hypotonia, bone deformity (kyphoscoliosis of the thoracic segment of the vertebral column, change in shape of the foot—Friedreich’s foot). Friedreich’s ataxia is often associated with congenital heart disease. General supporting treatment and orthopedic correction of the bone defects are prescribed. Prevention is based on genetic counseling.

REFERENCE

Tsuker, M. B. Osnovy nevropatologii detskogo vozrasta. Moscow, 1947.
References in periodicals archive ?
Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia," Science Translational Medicine, 2017; 9 (413): eaaj2347 DOI: 10.
Friedreich's Ataxia (FA) is a rare inherited disease that causes damage to the nervous system as well as diminished mobility.
Christodoulou K, Deymeer F, Serdaroglu P, Ozdemir C, Poda M, Georgiou DM, Ioannou P, Tsingis M, Zamba E, Middleton LT Mapping of the second Friedreich's ataxia (FA2) locus to chromosome 9p23-pII: evidence for further locus heterogeneity.
Whole-body vibration alters blood flow velocity and neuromuscular activity in Friedreich's ataxia, Clin Physiol Funct Imaging 31(2): 139-44.
At AAVLife we have assembled a world-class team focused on driving this program into the clinic to bring true benefit to patients with Friedreich's ataxia.
Their topics include the role of metal ions in brain function, aging and mild cognitive impairment, Friedreich's ataxia and diseases associated with the expansion of non-coding triplets, Creutzfeldt-Jakob and other prion diseases, and therapeutic strategies to combat the onset and progression of neurological diseases.
She was diagnosed with Friedreich's ataxia, a rare disease of the central nervous system.
people in the United States suffers from Friedreich's ataxia.
Friedreich's Ataxia (FA) is a rare, autosomal recessive hereditary disorder (13) caused by a defect in a recessive gene labeled FXN, affecting approximately 1 in every 50,000 people in the United States (6).
ViroPharma plans to develop and commercialize OX1 as a treatment of Friedreich's Ataxia and possibly other diseases for which OX1 may qualify for orphan drug designation.
Chris Hobson, now 26, was diagnosed with the degenerative condition Friedreich's ataxia when he was 12.