Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Spinal muscular atrophy


Symptoms

Newline Maker

What are the signs and symptoms of spinal muscular atrophy?

Spinal muscular atrophy (SMA) is primarily characterized by progressive muscle weakness and atrophy. Depending on the type, onset may range from before birth to adolescence or young adulthood.[1]

SMA type 0 (the prenatal form) is the most severe form and begins before birth. Usually, the first symptom of type 0 is reduced movement of the fetus that is first seen between 30 and 36 weeks of the pregnancy. After birth, these newborns have little movement and have difficulties with swallowing and breathing.[2] Life span is approximately 2-6 months.[1]

There are 3 types of SMA that tend to affect children before the age of one (SMA type I, SMA type II, and X-linked SMA). SMA type 1 is a severe form that may be apparent at birth or the first few months of life. Features may include difficulty swallowing or breathing and inability to sit without support.[3] The life span is usually less than 2 years.[1] SMA type II typically becomes apparent between 6 and 12 months of age; affected children may sit without support, although they cannot stand or walk unaided.[3] About 70% of people with this type live to be at least 25 years of age.[1] X-linked infantile SMA is similar to SMA type I; additional features may include joint deformities (contractures) or even broken bones at birth in very severe cases.[3]

Three other types of SMA can affect people in early childhood and adulthood.[3] SMA type III (also called Kugelberg-Welander disease or juvenile type) is a milder form of spinal muscular atrophy with symptoms that generally appear between early childhood (older than age 1 year) and early adulthood. People with type III are able to stand and walk without help, although they usually lose this ability later in life.[2] SMA type IV and Finkel type occur in adulthood, usually after age 30. Symptoms of adult-onset SMA are usually mild to moderate and include muscle weakness, tremor and twitching.[2]
Last updated: 1/7/2016

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. Learning About Spinal Muscular Atrophy. National Human Genome Research Institute. 2012; http://www.genome.gov/20519681.
  3. Spinal muscular atrophy. Genetics Home Reference (GHR). January 2013; http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.