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 ?
The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) is a European Community funded collaboration of 15 centers supported through the fp7 initiative to coordinate basic research and develop a clinical network for the advancement of treatments for FA.
About FARA The Friedreich's Ataxia Research Alliance(FARA) is a national, public, 501(c)(3), non-profit, tax-exempt organization dedicated to curing Friedreich's Ataxia (FA) through research.
As a teenager Jackie, from Shotley Bridge, Co Durham, went to St Anne's High School, Wolsingham, then started at Pendower Hall School, Benwell, Newcastle, after being diagnosed with Friedreich's Ataxia.
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.
Tom Trovinger is a 36 year old Maryland native who was diagnosed with Friedreich's ataxia 15 years ago and has recently been heavily involved with the Ataxia community.
CEO of Retrotope comments: "Retrotope is excited to begin human trials working with FARA and the Friedreich's ataxia community to develop a treatment for this devastating disease.
Catena(R) is approved in Canada to treat the symptoms of Friedreich's Ataxia, an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease.
Flowers may be sent to the funeral home or memorial contributions may be made to the Friedreich's Ataxia Research Alliance, P.
I also have an ambition to see a cure or treatment found for a rare genetic disorder called Friedreich's Ataxia, a progressive disease which appears in apparently healthy children eventually confining them to life in a wheelchair.
She is hoping for a cure for the neuromuscular disease Friedreich's ataxia, which leaves her unsteady on her feet and with slurred speech - which is sometimes confused as drunkeness.
He suffers from Friedreich's Ataxia and fought to get a lift installed in his school when he had mobility problems.
We are developing RG3039 for Spinal Muscular Atrophy (SMA) and RG2833 for Friedreich's ataxia (FA) which are serious and debilitating neurodegenerative diseases typically diagnosed in childhood.