Werdnig-Hoffmann disease


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Related to Werdnig-Hoffmann disease: spinal muscular atrophy type 1

spinal mus·cu·lar at·ro·phy type I

[MIM*253300]
the early infantile form, characterized by profound muscle weakness and wasting with onset at or shortly after birth; death occurs usually before 2 years of age. Autosomal recessive inheritance, caused by mutation in the survival motor neuron gene (SMN1) on 5q. About half of affected patients are also missing both homologues of a neighboring gene that encodes neuronal apoptosis inhibitory protein (NAIP), the loss of which is thought to influence the severity of the disease.

Werdnig-Hoffmann disease

[verd′nig hôf′mun]
Etymology: Guido Werdnig, Austrian neurologist, 1844-1919; Johann Hoffmann, German neurologist, 1857-1919
a genetic disorder beginning in infancy or young childhood, characterized by progressive atrophy of the skeletal muscle resulting from degeneration of the cells in the anterior horn of the spinal cord and the motor nuclei in the brainstem. Onset occurs within the first year of life, with the condition usually apparent at birth. Symptoms include congenital hypotonia; absence of stretch reflexes; flaccid paralysis, especially of the trunk and limbs; lack of sucking ability; fasciculations of the tongue and sometimes of other muscles; and often, dysphagia. Treatment is symptomatic, and death generally occurs in early childhood, often from respiratory complications. The condition is transmitted as an autosomal-recessive trait and occurs more frequently in siblings than in successive generations. Also called familial spinal muscular atrophy, Hoffmann's atrophy, infantile spinal muscular atrophy, progressive spinal muscular atrophy of infants, Werdnig-Hoffmann paralysis. See also floppy infant syndrome.

spinal muscular atrophy type 1

An autosomal recessive condition (OMIM:253300) characterised by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Disease severity is inversely proportional to the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amounts of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is the severest form of the SMAs, with onset before age 6 months. Infants never achieve the ability to sit.

Molecular pathology
Defects of SMN1, which encodes a survival motor neuron protein, cause spinal muscular atrophy types 1–4.

Werdnig-Hoffmann disease

Spinal muscle atrophy, see there.

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

Werdnig-Hoffmann disease

a human disease which has a possible model in hereditary spinal muscular atrophy of Brittany spaniels.