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.

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
References in periodicals archive ?
Medical considerations of long-term survival of Werdnig-Hoffmann disease. Am J Phys Med Rehab 2007;86:349-55.
ALS is also called a "motor neuron disease;" which is a general term that refers to a group of disorders that also includes Werdnig-Hoffmann disease, intermediate spinal muscular atrophy, Kugelberg-Welander disease and Aran-Duchenne spinal muscular atrophy.