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spinal muscular atrophy type-1; Werdnig-Hoffmann disease

Type I SMA, acute infantile SMA. Genetics: 1) autosomal recessive 2) linkage to chromosome 5q11.2-13.3 Pathology: 1) progressive denervation in muscle 2) variable sized, rounded small muscle fibers 3) atrophy of anterior spinal roots 4) loss of lower motor neurons from most levels of spinal cord & brainstem 5) degeneration of motor axons Clinical manifestations: 1) manifests at birth or after a few months: 2) floppy infant --> death after few months, 3) usually respiratory failure or aspiration pneumonia see NINDS Spinal Muscular Atrophy Information Page

General

childhood spinal muscular atrophy

Database Correlations

OMIM 253300

References

  1. Asbury, McKhann, McDonald. Diseases of the Nervous System. Clinical Neurobiology. Saunders 1992
  2. 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