Spinal muscular atrophy type 2

Common Name(s)

Spinal muscular atrophy type 2, SMA2

Spinal muscular atrophy type 2 (SMA2) is one type of a group of conditions known as spinal muscular atrophies (SMAs). SMAs 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). Muscle weakness in SMA2 is first noticed between the ages of 6 and 12 months. Children with SMA2 can usually sit without support, but need help getting to a seated position. Development is delayed and affected children usually cannot stand or walk. Many children with SMA2 lose the ability to sit on their own by their mid-teens. Other symptoms of this disease can include curvature of the spine (scoliosis) and uncontrollable movement in the fingers (tremors). Most affected individuals live past the age of 25 years.

SMA2 is caused by changes (mutations) in the SMN1 gene. This gene provides 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. SMA2 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.

SMA2 is usually considered in a child who has significant muscle weakness that is noticed between 6 and 12 months of age. Genetic testing of the SMN1 gene is used to confirm the diagnosis. There is no cure for SMA2. Treatment options, such as braces to help support the back or legs, are available to help manage the symptoms of SMA2. Talk to a doctor about all treatment options. Support groups are available for additional information and to connect with other families affected by SMA2.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinal muscular atrophy type 2" 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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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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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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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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinal muscular atrophy type 2" 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

View Details
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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.

http://www.mdausa.org

Last Updated: 15 Jul 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
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

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

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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Long-term stabilization of respiratory conditions in patients with spinal muscular atrophy type 2 by continuous positive airway pressure: a report of two cases.
 

Author(s): Masahiro Katayama, Hiroaki Naritomi, Hisahide Nishio, Toshiya Watanabe, Shoji Teramoto, Fumio Kanda, Akihiro Hazama

Journal:

 

Spinal muscular atrophy (SMA) type 2 is a motor neuron disease that leads to severe congenital muscle atrophy. The majority of adult patients are at risk of death due to respiratory failure. Here, we report on two patients with SMA type 2 who repeatedly developed bronchitis and pneumonia. ...

Last Updated: 13 Sep 2012

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Exercise-induced activation of NMDA receptor promotes motor unit development and survival in a type 2 spinal muscular atrophy model mouse.
 

Author(s): Olivier Biondi, Clément Grondard, Sylvie Lécolle, Séverine Deforges, Claude Pariset, Philippe Lopes, Carmen Cifuentes-Diaz, Hung Li, Bruno della Gaspera, Christophe Chanoine, Frédéric Charbonnier

Journal: J. Neurosci.. 2008 Jan;28(4):953-62.

 

Spinal muscular atrophy (SMA) is an inborn neuromuscular disorder caused by low levels of survival motor neuron protein, and for which no efficient therapy exists. Here, we show that the slower rate of postnatal motor-unit maturation observed in type 2 SMA-like mice is correlated ...

Last Updated: 24 Jan 2008

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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 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
 

Status: Recruiting

Condition Summary: Type 2 Spinal Muscular Atrophy; Type 3 Spinal Muscular Atrophy

 

Last Updated: 30 Jun 2015

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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: 23 Jun 2015

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Motor Development and Orthoses in Spinal Muscular Atrophy (SMA)
 

Status: Not yet recruiting

Condition Summary: Spinal Muscular Atrophy

 

Last Updated: 17 Aug 2009

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