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.


Tsuker, M. B. Osnovy nevropatologii detskogo vozrasta. Moscow, 1947.
References in periodicals archive ?
Assessment of upper limb function in young Friedreich ataxia patients compared to control subjects using a new three-dimensional kinematic protocol.
Mariotti et al., "Frataxin gene point mutations in Italian Friedreich ataxia patients," neurogenetics, vol.
* A review of the Friedreich Ataxia products under development by companies and universities/research institutes based on information derived from company and industry-specific sources
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.
Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich ataxia in 56 patients.
Deutsch, Friedreich Ataxia Research Alliance (FARA) and the Muscular Dystrophy Association; D.R.
* Devise corrective measures for pipeline projects by understanding Friedreich Ataxia pipeline depth and focus of Indication therapeutics.
The clinical diagnosis of A-T in very young infants can be difficult and is often confused with other disorders, such as mild cerebral palsy and Friedreich ataxia. In these very young patients, laboratory testing is extremely helpful.
She was diagnosed with Friedreich Ataxia, a degenerative disorder that affects the nervous system.