Werdnig-Hoffman disease

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Noun

Werdnig-Hoffman disease - autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhoodautosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome

EncyclopediaSeeWerdnig-Hoffmann disease

Werdnig-Hoffman disease

Spinal muscular atrophy of infants. This is one of the causes of the FLOPPY INFANT SYNDROME. There is profound loss of muscle TONE, absence of reflexes, weakness of the muscles of respiration and twitching of the tongue. The diagnosis can be confirmed by muscle BIOPSY. There is no known treatment and the outlook is grave. (Guido Werdnig, 1844–1919, Austrian neurologist; and Johann Hoffman, 1857–1919, German neurologist).

Werdnig-Hoffman disease

Related to Werdnig-Hoffman disease: Spinal muscular atrophy

noun

Words related to Werdnig-Hoffman disease

noun autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis

Related Words

autosomal recessive defect
autosomal recessive disease

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