Werdnig-Hoffmann disease

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Related to Werdnig-Hoffman disease: Spinal muscular atrophy

Werdnig-Hoffmann disease

[′ver‚nik ′hōf‚män di‚zēz]
(medicine)
Infantile spinal muscular atrophy.
References in periodicals archive ?
Nemaline myopathy, first described in 1963, is a neuromuscular disorder characterized by generalized muscle weakness and the presence of rodlike structures in the muscle fibers; the disorder occurs at a frequency of 1 in 500 000.[1] The differential diagnosis of hypotonia in the neonatal period includes several disease entities: spinal muscular atrophy (type 1, Werdnig-Hoffman disease); congenital myopathies, including nemaline myopathy; congenital muscular dystrophy; congenital myotonic dystrophy; metabolic myopathies; neuropathies; and neonatal myasthenia gravis.[2]
Werdnig-Hoffman disease, or infantile spinal muscular atrophy, was the primary clinical diagnosis in this patient.
Our daughter, Stephanie, was diagnosed with Werdnig-Hoffman disease at 16 months of age.