hereditary spinal ataxia

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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.

he·red·i·tar·y spi·nal a·tax·i·a

(hĕr-ed'i-tar-ē spī'năl ă-tak'sē-ă)
Sclerosis of the posterior and lateral columns of the spinal cord, occurring in children and marked by ataxia in the lower limbs, extending to the upper limbs, followed by paralysis and contractures.
See also: spinocerebellar ataxia


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

hereditary spinal ataxia

; hereditary spinocerebellar ataxia; Friedreich's ataxia inherited autosomal-recessive disease characterized by progressive loss of voluntary muscle coordination; symptoms develop between ages 5 and 15 years, e.g. loss of vibrational and positional awareness, loss of deep tendon reflexes and an extensor plantar response, progressing to loss of voluntary muscle function, pes cavus, wide-based, high-steppage, unsteady ataxic gait, constant unsteadiness and difficulty with standing; 50% develop cardiac disease; 10% develop diabetes mellitus; usually fatal within 15 years of diagnosis

ataxia, hereditary spinal 

A hereditary degeneration of the posterior and lateral columns of the spinal cord occurring in childhood. It is characterized by general ataxia, nystagmus and, sometimes, ptosis and external ophthalmoplegia. Syn. Friedreich's ataxia.
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