infantile spinal muscular atrophy


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in·fan·tile spi·nal mus·cu·lar at·ro·phy

(in'făn-tīl spī'năl mŭs'kyū-lăr at'rŏ-fē)
Transmitted as autosomal recessive on chromosome 5q. Progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves with profound weakness and bulbar dysfunction occurring in the first 2 years of life. Three groups, based on age of clinical onset, are recognized.

Hoffmann,

Johann, German neurologist, 1857-1919.
Hoffmann muscular atrophy - progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves. Synonym(s): infantile spinal muscular atrophy
Hoffmann phenomenon - excessive irritability of the sensory nerves to electrical or mechanical stimuli in tetany.
Hoffmann reflex - Synonym(s): Hoffmann sign
Hoffmann sign - in latent tetany, mild mechanical stimulation of the trigeminal nerve causes severe pain. Synonym(s): Hoffmann reflex
Werdnig-Hoffmann disease - Synonym(s): Werdnig-Hoffmann muscular atrophy
Werdnig-Hoffmann muscular atrophy - see under Werdnig

Werdnig,

Guido, Austrian neurologist, 1862-1919.
Werdnig-Hoffmann disease - Synonym(s): Werdnig-Hoffmann muscular atrophy
Werdnig-Hoffmann muscular atrophy - progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves, with profound weakness and bulbar dysfunction. Synonym(s): infantile spinal muscular atrophy; Werdnig-Hoffmann disease
References in periodicals archive ?
Hejtmancik et al., "X-linked infantile spinal muscular atrophy," The American Journal of Diseases of Children, vol.
Hoffman, "A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2," Human Molecular Genetics, vol.
Cao, "Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: novel mutations and review of the literature," Brain & Development, vol.