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单词 hereditary spinal ataxia
释义 DictionarySeeFriedreich's ataxia

hereditary spinal ataxia


hereditary spinal ataxia

[hə′red·ə‚ter·ē ¦spīn·əl ə′tak·sē·ə] (medicine) Friedrich's ataxia

hereditary spinal ataxia


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. Synonym(s): hereditary spinal ataxia, heredotaxia

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

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 ataxiaFriedreich disease - an ill-defined disorder marked by rapid and widespread muscle contractions Synonym(s): Friedreich spasms; myoclonus multiplex; paramyoclonus multiplexFriedreich 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

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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更新时间:2024/11/11 19:00:03