Spinal muscular atrophy type 3

Common Name(s)

Spinal muscular atrophy type 3, Kugelberg-Welander Disease, SMA3

Spinal muscular atrophy type 3 (SMA3), also known as juvenile SMA, is one type of a group of conditions known as spinal muscular atrophies (SMAs), which are inherited disorders that cause a child 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 child loses control of muscle movement, has muscle weakness, and loses muscle tissue (atrophy). SMA3 is considered to be a more mild form of SMA and symptoms usually present after the age of 12 months. The muscle weakness in SMA3 affects both arms and legs, but legs are typically more severely affected. The disease can sometimes cause a curvature of the spine (scoliosis). Most children with SMA3 can walk without help, but they may fall often. People with SMA3 may need to use a wheelchair later in life.

SMA3 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. SMA3 is inherited in an autosomal recessive way, which means a child must have a mutation in both copies of their SMN1 gene to have the condition.

SMA3 is usually considered in a child who has significant muscle weakness that is noticed around 12 months of age. Genetic testing of the SMN1 gene is used to confirm the diagnosis. There is no cure for SMA3. Treatment options, such as braces to help support the back or legs, are available to help with complications of SMA3. If your child has been diagnosed with SMA3, talk to their doctor about all treatment options. Support groups are available for additional information and to connect with other families affected by SMA3.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinal muscular atrophy type 3" for support, advocacy or research.

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Children with Spinal Muscular Atrophy

Our mission is to support families and individuals and to provide information for everyone affected by or involved with Spinal Muscular Atrophy.

Last Updated: 14 Jan 2015

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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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Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

Last Updated: 19 May 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinal muscular atrophy type 3" for support, advocacy or research.

Logo
Children with Spinal Muscular Atrophy

Our mission is to support families and individuals and to provide information for everyone affected by or involved with Spinal Muscular Atrophy.

http://www.csma.org.ua

Last Updated: 14 Jan 2015

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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.

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

View Details
Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

http://www.thisbeandnoah.org/

Last Updated: 19 May 2015

View Details

 

General Support Organizations

Not finding the support you need? Show 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 "Spinal muscular atrophy type 3" returned 2 free, full-text research articles on human participants. First 3 results:

Last Updated: 31 Jan 2014

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Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.
 

Author(s): Petra Kaufmann, Michael P McDermott, Basil T Darras, Richard Finkel, Peter Kang, Maryam Oskoui, Andrei Constantinescu, Douglas Michael Sproule, A Reghan Foley, Michele Yang, Rabi Tawil, Wendy Chung, Bill Martens, Jacqueline Montes, Jessica O'Hagen, Sally Dunaway, Jean M Flickinger, Janet Quigley, Susan Riley, Allan M Glanzman, Maryjane Benton, Patricia A Ryan, Carrie Irvine, Christine L Annis, Hailly Butler, Jayson Caracciolo, Megan Montgomery, Jonathan Marra, Benjamin Koo, Darryl C De Vivo, ,

Journal: Arch. Neurol.. 2011 Jun;68(6):779-86.

 

To characterize the short-term course of spinal muscular atrophy (SMA) in a genetically and clinically well-defined cohort of patients with SMA.

Last Updated: 14 Jun 2011

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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 "Spinal muscular atrophy type 3" 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

Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy Type 3

 

Last Updated: 26 Aug 2014

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Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
 

Status: Not yet recruiting

Condition Summary: Spinal Muscular Atrophy Type 3; Mitochondrial Myopathy

 

Last Updated: 6 Sep 2016

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International SMA Patient Registry
 

Status: Recruiting

Condition Summary: Muscular Atrophy, Spinal

 

Last Updated: 29 Aug 2016

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