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Genetic and Rare Diseases Information Center (GARD)

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Spinal muscular atrophy type 2


Other Names for this Disease
  • Chronic infantile spinal muscular atrophy
  • Chronic spinal muscular atrophy
  • Dubowitz disease
  • Intermediate spinal muscular atrophy
  • Muscular atrophy, spinal, infantile chronic form
Related Diseases
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Overview

Spinal muscular atrophy type 2 (SMA II) is an inherited condition that affects the muscles. It is characterized primarily by muscle weakness that develops in children between ages 6 and 12 months. Affected children can sit without support; however, they cannot stand or walk unaided. Other signs and symptoms may include a tremor of the fingers, breathing issues, feeding difficulties and skeletal abnormalities (such as scoliosis and hip dislocation).[1][2] SMA II is caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner.[3] Treatment is symptomatic.[1]
Last updated: 3/25/2015

References

  1. Thomas W Prior, PhD, FACMG and Barry S Russman, MD. Spinal Muscular Atrophy. GeneReviews. November 2013; http://www.ncbi.nlm.nih.gov/books/NBK1352/.
  2. Bryan Tsao, MD. Spinal Muscular Atrophy. Medscape Reference. May 2013; http://emedicine.medscape.com/article/1181436-overview.
  3. Spinal Muscular Atrophy. Genetics Home Reference. January 2013; http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy.
Your Questions Answered
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1 question(s) from the public on Spinal muscular atrophy type 2 have been answered. See questions and answers . You can also submit a new question.

Basic Information

  • Families of SMA has created a booklet entitled Understanding SMA that is intended to serve as a source of information and support for children and adults with Spinal Muscular Atrophy (SMA). 
  • Genetics Home Reference (GHR) contains information on Spinal muscular atrophy type 2. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spinal muscular atrophy type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chronic infantile spinal muscular atrophy
  • Chronic spinal muscular atrophy
  • Dubowitz disease
  • Intermediate spinal muscular atrophy
  • Muscular atrophy, spinal, infantile chronic form
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.