Werdnig-Hoffmann disease

Werd·nig-Hoff·mann disease 'vert-nik-'hof-.män- n atrophy of muscles that is caused by degeneration of the ventral horn cells of the spinal cord, is inherited as an autosomal recessive trait, becomes symptomatic during early infancy, is characterized by hypotonia and flaccid paralysis, and is often fatal during childhood called also Werdnig-Hoffmann syndrome compare KUGELBERG-WELANDER DISEASE

Werd·nig 'vert-nik Guido (1844-1919)

Austrian neurologist , and

Hoffmann Johann (1857-1919)

German neurologist. Independently of each other, Werdnig and Hoffmann published descriptions of Werdnig-Hoffmann disease in 1891. Hoffmann is also remembered for his 1897 descriptions of peroneal muscular atrophy and myopathy associated with hypothyroidism.

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a hereditary disorder - a severe form of spinal muscular atrophy - in which the cells of the spinal cord begin to die between birth and the age of six months, causing a symmetrical muscle weakness. Affected infants become floppy and progressively weaker; respiratory and facial muscles become affected. Children usually die by the age of 20 months from respiratory failure and there is no treatment. genetic counselling is required for parents of an affected child as each of their subsequent children has a one in four chance of being affected.

G. Werdnig (1844-1919), Austrian neurologist; J. Hoffmann (1857-1919), German neurologist

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Type I spinal muscular atrophy, an autosomal recessive condition caused by mutation or deletion in the telomeric copy of the SMN1 gene (locus: 5q12.2-q13.3), which encodes a protein involved in RNA processing. It is usually seen in infancy and in siblings rather than in successive generations. It results from degeneration of the anterior horn cells of the spinal cord and is characterized by progressive hypotonia and wasting of the muscles with complete flaccid paralysis. Called also infantile spinal muscular atrophy.