Adult onset spinal muscular atrophy

Common Name(s)

Adult onset spinal muscular atrophy, Spinal muscular atrophy type 4, SMA4

Spinal muscular atrophy type 4 (SMA4) is one type of a group of conditions known as spinal muscular atrophies (SMAs), which are inherited disorders that cause a person to lose a specific type of cell in their spinal cord (motor neurons) and a part of their brain that is connected to the spinal cord (brain stem). Without these important parts of the brain and spinal cord, an affected person loses control of muscle movement, has muscle weakness, and loses muscle tissue (atrophy). SMA4 is one of the milder forms of SMA. Symptoms typically do not occur until after age 30 and include weakness in the muscles that are closest to the center of the body (proximal muscle weakness), which include the upper arms and legs. Other symptoms include tremors, twitching, and mild breathing issues.

SMA4 is caused by changes (mutations) in the SMN1 gene. This gene provides the instructions to make a protein that helps motor neurons work. Motor neurons are cells that send signals from the brain to the muscles. When there are mutations in the SMN1 gene, the motor neurons die off, leading to the symptoms of this condition. SMA4 is inherited in an autosomal recessive way, which means a person must have a mutation in both copies of their SMN1 gene to have the condition.

SMA4 is usually considered in an adult who begins to have proximal muscle weakness. Genetic testing of the SMN1 gene is used to confirm the diagnosis. Muscle weakness seen in SMA4 is similar to the muscle weakness seen in other genetic conditions. A doctor may collect and examine a small muscle sample (biopsy) to look for clues for the diagnosis. There is no cure for SMA4. Treatment options focus on addressing the muscle weakness and can include physical therapy. If you or your child has been diagnosed with SMA4, talk with a doctor about all treatment options. Support groups are available for additional information and to connect with others affected by this condition.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adult onset spinal muscular atrophy" for support, advocacy or research.

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Spinal Muscular Atrophy Foundation

The mission of the Spinal Muscular Atrophy Foundation is to accelerate the development of a treatment for SMA, the number one genetic killer of infants and toddlers.

Last Updated: 27 Jun 2016

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Spinal Muscular Atrophy Support UK (SMA Support UK)

We inform, support and empower families and individuals affected by all forms of SMA and raise awareness of the condition. We also fund and support the research community addressing the causes, treatment and management of SMA.

Last Updated: 28 Jun 2016

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adult onset spinal muscular atrophy" for support, advocacy or research.

Logo
Spinal Muscular Atrophy Foundation

The mission of the Spinal Muscular Atrophy Foundation is to accelerate the development of a treatment for SMA, the number one genetic killer of infants and toddlers.

www.smafoundation.org

Last Updated: 27 Jun 2016

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Spinal Muscular Atrophy Support UK (SMA Support UK)

We inform, support and empower families and individuals affected by all forms of SMA and raise awareness of the condition. We also fund and support the research community addressing the causes, treatment and management of SMA.

http://www.smasupportuk.org.uk/

Last Updated: 28 Jun 2016

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Adult onset spinal muscular atrophy" returned 1 free, full-text research articles on human participants. First 3 results:

Adult onset spinal muscular atrophy with atrophic testes: report of two cases.
 

Author(s): J R Richert, J P Antel, J J Canary, W C Maxted, D Groothuis

Journal: J. Neurol. Neurosurg. Psychiatr.. 1986 May;49(5):606-8.

 

Last Updated: 8 Jul 1986

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Adult onset spinal muscular atrophy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.