Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man

Tyler Mark Pierson; Gary Tart; David Adams; Camilo Toro; Gretchen Golas; Cynthia Tifft; William Gahl

doi:10.1016/j.nmd.2011.02.005

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man

Neuromuscul Disord. 2011 May;21(5):353-5. doi: 10.1016/j.nmd.2011.02.005. Epub 2011 Feb 25.

Authors

Tyler Mark Pierson¹, Gary Tart, David Adams, Camilo Toro, Gretchen Golas, Cynthia Tifft, William Gahl

Affiliation

¹ NIH Undiagnosed Diseases Program, NIH Office of Rare Disease, Research and NHGRI, Bethesda, MD 20892-3705, USA. [email protected]

Abstract

Spinal muscular atrophy with respiratory distress (SMARD1) presents within the first 13months of age with low birth weight, progressive length dependent motor neuropathy, and respiratory failure from diaphragmatic paralysis. SMARD1 is caused by mutations in IGHMBP2, encoding the immunoglobulin μ-binding protein 2. Because of the severity of the disorder, many infantile-onset SMARD1 patients do not live past the first decade of life. This report documents the clinical course of a 20-year-old man diagnosed with SMARD1.

Published by Elsevier B.V.

Publication types

Case Reports
Research Support, N.I.H., Extramural

MeSH terms

DNA-Binding Proteins / genetics*
Humans
Male
Mutation / genetics*
Spinal Muscular Atrophies of Childhood / diagnosis*
Spinal Muscular Atrophies of Childhood / genetics*
Transcription Factors / genetics*
Young Adult

Substances

DNA-Binding Proteins
IGHMBP2 protein, human
Transcription Factors

Abstract

Publication types

MeSH terms

Substances

Grants and funding