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 ?
SAN DIEGO, Calif., October 26, 2017 -- Researchers here report that a single infusion of wildtype hematopoietic stem and progenitor cells (HSPCs) into a mouse model of Friedreich's ataxia (FA) measurably halted cellular damage caused by the degenerative disease.
Friedreich's Ataxia (FA) is a rare inherited disease that causes damage to the nervous system as well as diminished mobility.
One method of quantifying the progression of FA has been done in a clinical setting through the use of the Friedreich's Ataxia Rating Scale (FARS), which has five separate subscales based on a clinical-examination.
Friedreich's ataxia may be a rare disorder, but it is an all too common feature of everyday life for patients and their families, said Amber Salzman, Ph.D., a co-founder and the Chief Executive Officer of AAVLife.
game will also raise awareness of an illness called Friedreich's Ataxia (FA), a rare but debilitating nerve disease.
While the signs of cerebellar dysfunction had started acutely, their continuation for more than 2 weeks prompted further investigation for an inherited cause of progressive chronic ataxia (our differential diagnosis included ataxia telangiectasia (no telangiectasia were present clinically and the immunoglobulin levels were normal), abetalipoproteinaemia, Friedreich's ataxia and spinocerebellar ataxia.
Barry Rice, 34, is living with Friedreich's Ataxia, a progressive neuromuscular disorder that erodes muscle control and coordination.
present interesting data on a drug screen performed using two different models of Friedreich's ataxia, yeast and Drosophila.
Friedreich's ataxia (FRDA), an inherited, progressive neurodegenerative disease, is caused by a reduced expression of the mitochondrial iron-binding protein, frataxin.
Differential diagnoses included Friedreich's ataxia, multiple sclerosis and diabetic, alcoholic, autoimmune or toxic peripheral neuropathy.
Voyager's wholly-owned and partnered pipeline focuses on severe neurological diseases for which effective new therapies are needed, including Parkinson's disease, Huntington's disease, a monogenic form of ALS called SOD1, Friedreich's ataxia, Alzheimer's disease, and other neurodegenerative diseases related to defective or excess aggregation of tau and alpha-synuclein proteins in the brain.