Friedreich ataxia


Also found in: Dictionary, Thesaurus, Acronyms, Encyclopedia.
Related to Friedreich ataxia: myotonic dystrophy

Fried·reich a·tax·i·a

(frēd'rīk), [MIM*229300]
an autosomal recessive neurologic disorder consisting of progressive imbalance, dysarthria, scoliosis, pes cavus, proprioceptive sensory loss, and usually the absence of deep tendon reflexes. Onset typically is during the teenage years; caused by a mutation in the Friedreich ataxia gene on chromosome 9q. Major pathologic signs are found in the posterior columns, although the heart and pancreas are affected in a substantial number of patients. Two variants include late onset Friedreich ataxia and Friedreich ataxia with preserved deep tendon reflexes; both these variants are due to the same mutation.

Friedreich ataxia

(frēd′rīk, -rīKH)
n.
A hereditary neuromuscular disease that is usually diagnosed in childhood or adolescence and is characterized by muscle weakness and unsteadiness, followed by scoliosis, progressive cardiomyopathy, and other symptoms. It is caused by a recessive mutation in a gene that codes for a protein found in mitochondria.

Fried·reich a·tax·i·a

(frēd'rīk ă-tak'sē-ă)
A neurologic disorder characterized by ataxia, dysarthria, scoliosis, high-arched foot or pes cavus, and paralysis of the muscles, especially of the lower limbs; onset usually in childhood or youth with sclerosis of the posterior and lateral columns of the spinal cord; autosomal recessive inheritance, caused by mutation involving trinucleotide repeat expansion in Friedreich ataxia gene (FRDA) on chromosome 9q.

Friedreich,

Nikolaus, German neurologist, 1825-1882.
Friedreich ataxia - sclerosis of the posterior and lateral columns of the spinal cord, occurring in children and marked by ataxia in the lower extremities, extending to the upper, followed by paralysis and contractures. Synonym(s): Biemond ataxia; hereditary spinal ataxia
Friedreich disease - an ill-defined disorder marked by rapid and widespread muscle contractions Synonym(s): Friedreich spasms; myoclonus multiplex; paramyoclonus multiplex
Friedreich phenomenon - the tympanitic percussion sound over a pulmonary cavity is slightly raised in pitch on deep inspiration.
Friedreich sign - in adherent pericardium, sudden collapse of the previously distended veins of the neck at each diastole of the heart.
Friedreich spasms - Synonym(s): Friedreich disease
References in periodicals archive ?
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Characterizing gait, locomotor status, and disease severity in children and adolescents with Friedreich ataxia. J Neurol Phys Ther 2009;33:144-9.
Clark et al., "Frataxin levels in peripheral tissue in Friedreich ataxia," Annals of Clinical and Translational Neurology, vol.
Lynch, "Selected missense mutations impair frataxin processing in Friedreich ataxia," Annals of Clinical and Translational Neurology, vol.
Clinical and genetic study of Friedreich ataxia in an Australian population.
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
Friedreich ataxia: autosomal recessive disease caused by an intronic GAA repeat expansion.
Recent advances in the molecular pathogenesis of Friedreich Ataxia. Hum Mol Genet 2000; 9:887-892.
Cardiomyopathy in Friedreich ataxia: clinical findings and research.
Mortality in Friedreich ataxia. J Neurol Sci 2011;307:46-9.
* Coverage of the Friedreich Ataxia pipeline on the basis of route of administration and molecule type.
Friedreich ataxia (FA) is an autosomal recessive spinocerebellar syndrome with onset before age 25, characterized by progressive cerebellar ataxia, dysarthria, areflexia, sensory loss in lower limbs, pyramidal weakness, and Babinski signs (1).