spinal muscular atrophy type-1; Werdnig-Hoffmann disease
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Introduction
Type I SMA, acute infantile SMA.
Pathology
- progressive denervation in muscle
- variable sized, rounded small muscle fibers
- atrophy of anterior spinal roots
- loss of lower motor neurons from most levels of spinal cord & brainstem
- degeneration of motor axons
Genetics
- autosomal recessive
- linkage to chromosome 5q11.2-13.3
Clinical manifestations
- manifests at birth or after a few months:
- floppy infant --> death after few months,
- usually respiratory failure or aspiration pneumonia see NINDS Spinal Muscular Atrophy Information Page
More general terms
References
- ↑ Asbury, McKhann, McDonald. Diseases of the Nervous System. Clinical Neurobiology. Saunders 1992
- ↑ National Institute of Neurological Disorders and Stroke (NINDS) NINDS Spinal Muscular Atrophy Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Spinal-Muscular-Atrophy-Information-Page
Patient information
spinal muscular atrophy type-1 patient information