Spinal muscular atrophy

Common Name(s)

Spinal muscular atrophy, Spinal muscular atrophy (SMA), Spinal muscular dystrophy

Spinal muscular atrophy (SMA) is a genetic disorder that causes 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). The most commonly affected muscles are in the shoulders, hips, and thighs, but muscles involved in breathing and swallowing can also be affected in severe cases. There are many different types of SMA, each with its own set of features and symptoms. These include SMA types I through IV, X-linked, spinal muscular atrophy lower extremity dominant (SMA-LED), and adult-onset spinal muscular atrophy. More information about each type is available under a separate disease description.

While every type of SMA is caused by a change (mutation) in a gene, not every type has the same genetic cause. A mutation in the SMN1 gene is the genetic cause of SMA types I through IV. A mutation in the UBA1 gene is the genetic cause for X-linked SMA. A mutation in the DYNC1H1 gene is the cause for SMA-LED and a mutation in the VAPB gene is the cause of adult onset SMA. Each of these genes provide instructions for the body to make a protein that helps motor neurons work. Motor neurons are cells that send signals from the brain to the muscles. When one of these genes has a mutation, the motor neurons do not work, which causes the symptoms of SMA.

SMA is considered in a baby or child who has muscle weakness and atrophy. Genetic testing is used to confirm the diagnosis. There is no cure for SMA and treatments for more severe symptoms, such as breathing and swallowing problems, can include devices to help breathing and feeding. If your child has been diagnosed with SMA, talk with your doctor about current treatment options. Support groups can provide more information and support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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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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Claire Altman Heine Foundation, Inc.

The Claire Altman Heine Foundation uses its funding to identify carriers of spinal muscular atrophy (SMA), support population-based SMA carrier testing, raise awareness of the need for SMA carrier screening and educate the public and medical communities about carrier screening for SMA.

Last Updated: 8 Nov 2012

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Cure SMA

Cure SMA leads the way to a world without spinal muscular atrophy, the number one genetic cause of death for infants. We fund and direct comprehensive research that drives breakthroughs in treatment and care, and we provide families the support they need for today.

Last Updated: 3 Sep 2014

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FightSMA

FightSMA is a US-based international nonprofit organization working to find a cure for Spinal Muscular Atrophy (SMA), a neuromuscular disease that is the leading inherited killer of children under two.

Last Updated: 26 Jun 2013

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Getty Owl Foundation

To spread awareness, advocate and support affected families, and raise funds for research for Spinal Muscular Atrophy, the #1 genetic killer of young children.

Last Updated: 1 Mar 2013

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Gwendolyn Strong Foundation

The Gwendolyn Strong Foundation (theGSF) is a nonprofit organization dedicated to increasing global awareness of Spinal Muscular Atrophy (SMA), the #1 genetic killer of young children, accelerating research focused on ending this cruel disease, and supporting families impacted by SMA and other life-altering conditions. theGSF is an all volunteer organization, meaning 100% of your donation goes toward fulfilling our mission.

Last Updated: 19 Feb 2013

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 15 Jul 2015

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Neuromuscular Disease Association of China

There are over 40 different types of Muscular Dystrophy and related Neuromuscular conditions.These conditions are characterised by loss of muscular strength,as progressive muscle wasting or nerve

Last Updated: 21 May 2010

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 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: 18 Feb 2010

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The Jennifer Trust for Spinal Muscular Atrophy

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: 24 Apr 2013

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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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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details
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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.

http://www.csma.org.ua

Last Updated: 14 Jan 2015

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Claire Altman Heine Foundation, Inc.

The Claire Altman Heine Foundation uses its funding to identify carriers of spinal muscular atrophy (SMA), support population-based SMA carrier testing, raise awareness of the need for SMA carrier screening and educate the public and medical communities about carrier screening for SMA.

http://www.preventsma.org

Last Updated: 8 Nov 2012

View Details
Cure SMA

Cure SMA leads the way to a world without spinal muscular atrophy, the number one genetic cause of death for infants. We fund and direct comprehensive research that drives breakthroughs in treatment and care, and we provide families the support they need for today.

http://www.cureSMA.org

Last Updated: 3 Sep 2014

View Details
FightSMA

FightSMA is a US-based international nonprofit organization working to find a cure for Spinal Muscular Atrophy (SMA), a neuromuscular disease that is the leading inherited killer of children under two.

http://www.fightsma.org/

Last Updated: 26 Jun 2013

View Details
Getty Owl Foundation

To spread awareness, advocate and support affected families, and raise funds for research for Spinal Muscular Atrophy, the #1 genetic killer of young children.

http://www.gettyowl.org

Last Updated: 1 Mar 2013

View Details
Gwendolyn Strong Foundation

The Gwendolyn Strong Foundation (theGSF) is a nonprofit organization dedicated to increasing global awareness of Spinal Muscular Atrophy (SMA), the #1 genetic killer of young children, accelerating research focused on ending this cruel disease, and supporting families impacted by SMA and other life-altering conditions. theGSF is an all volunteer organization, meaning 100% of your donation goes toward fulfilling our mission.

http://theGSF.org

Last Updated: 19 Feb 2013

View Details
Logo
Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 15 Jul 2015

View Details
Neuromuscular Disease Association of China

There are over 40 different types of Muscular Dystrophy and related Neuromuscular conditions.These conditions are characterised by loss of muscular strength,as progressive muscle wasting or nerve

http://www.mdachina.org

Last Updated: 21 May 2010

View Details
Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

View Details
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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: 18 Feb 2010

View Details
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The Jennifer Trust for Spinal Muscular Atrophy

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.jtsma.org.uk

Last Updated: 24 Apr 2013

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
werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

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General Resources

Population Statistics of SMA in the UK

Written for people diagnosed with Spinal Muscular Atrophy (SMA), their families, health care and allied professionals and members of the general public, to answer questions frequently asked about the incidence of SMA

Updated 17 Apr 2013

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What is SMA?

Provides a brief overview of the causes, effects and inheritance pattern of the 4 common forms of Spinal Muscular Atrophy. It includes a glossary of terms used in the sheet and sources of further information and support.

Updated 24 Apr 2013

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publications

care series publications

Uploaded By: Cure SMA

Updated 3 Sep 2014

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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" returned 508 free, full-text research articles on human participants. First 3 results:

Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project.
 

Author(s): Jessica L Larson, Ari J Silver, Dalin Chan, Carlos Borroto, Brett Spurrier, Lee M Silver

Journal:

 

Spinal muscular atrophy (SMA) is the most common pan-ethnic cause of early childhood death due to mutations in a single gene, SMN1. Most chromosome 5 homologs have a functional gene and dysfunctional copy, SMN2, with a single synonymous base substitution that results in faulty RNA ...

Last Updated: 29 Oct 2015

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SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy.
 

Author(s): Vittoria Pagliarini, Laura Pelosi, Maria Blaire Bustamante, Annalisa Nobili, Maria Grazia Berardinelli, Marcello D'Amelio, Antonio Musarò, Claudio Sette

Journal: J. Cell Biol.. 2015 Oct;211(1):77-90.

 

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 during pre-messenger RNA (mRNA) ...

Last Updated: 13 Oct 2015

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IGF-1R Reduction Triggers Neuroprotective Signaling Pathways in Spinal Muscular Atrophy Mice.
 

Author(s): Olivier Biondi, Julien Branchu, Amina Ben Salah, Léo Houdebine, Lise Bertin, Farah Chali, Céline Desseille, Laure Weill, Gabriel Sanchez, Camille Lancelin, Saba Aïd, Philippe Lopes, Claude Pariset, Sylvie Lécolle, Jocelyn Côté, Martin Holzenberger, Christophe Chanoine, Charbel Massaad, Frédéric Charbonnier

Journal: J. Neurosci.. 2015 Aug;35(34):12063-79.

 

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by the selective loss of spinal motor neurons due to the depletion of the survival of motor neuron (SMN) protein. No therapy is currently available for SMA, which represents the leading genetic cause of death in ...

Last Updated: 28 Aug 2015

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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" returned 60 free, full-text review articles on human participants. First 3 results:

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.
 

Author(s): Fiammetta Vanoli, Paola Rinchetti, Francesca Porro, Valeria Parente, Stefania Corti

Journal: J. Cell. Mol. Med.. 2015 Sep;19(9):2058-66.

 

Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration. It is a rare and fatal disease with an early ...

Last Updated: 4 Sep 2015

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Disease mechanisms and therapeutic approaches in spinal muscular atrophy.
 

Author(s): Sarah Tisdale, Livio Pellizzoni

Journal: J. Neurosci.. 2015 Jun;35(23):8691-700.

 

Motor neuron diseases are neurological disorders characterized primarily by the degeneration of spinal motor neurons, skeletal muscle atrophy, and debilitating and often fatal motor dysfunction. Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease of high incidence ...

Last Updated: 11 Jun 2015

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Spinal Muscular Atrophy Therapeutics: Where do we Stand?
 

Author(s): Constantin d'Ydewalle, Charlotte J Sumner

Journal: Neurotherapeutics. 2015 Apr;12(2):303-16.

 

Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder pathologically characterized by the degeneration of motor neurons in the spinal cord and muscle atrophy. Motor neuron loss often results in severe muscle weakness causing affected infants to die before reaching 2 ...

Last Updated: 21 Apr 2015

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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

Palliative Care in Spinal Muscular Atrophy (SMA) 1
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy 1

 

Last Updated: 8 Dec 2015

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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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Pilot Study of an Innovative Physiotherapy in Patients With Infantile Spinal Muscular Atrophy (SMA)
 

Status: Recruiting

Condition Summary: Infantile Spinal Muscular Atrophy of Type 2 or 3

 

Last Updated: 17 Mar 2016

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