Werdnig-Hoffman disease

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Noun1.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 childhood
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
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References in periodicals archive
The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1).
Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy
In an effort to predict prognosis, the SMAs have been classified into four categories based on their severity and age of symptom onset, namely, type I, or Werdnig-Hoffmann disease; type II, or juvenile SMA; type III, or Wohlfart-Kugelberg-Welander syndrome; and type IV, whose onset occurs during early adulthood [2].
Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity
The patient will not be previous transplant volunteer Valery Spiridonov, who has a form of spinal muscular atrophy called Werdnig-Hoffmann Disease.
Surgeon Says Human Head Transplant Less Than A Year Away
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