Spinal muscular atrophy type 2

Common Name(s)

Spinal muscular atrophy type 2, SMA Type II

Spinal muscular atrophy type 2 (SMA II) is part of a group of disorders that affect the control of muscle movements. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. SMA II is characterized by muscle weakness that develops in children between ages 6 and 12 months. Children with SMA II can sit without support, although they cannot stand or walk unaided. Finger trembling and general weakness are common. It is typically caused by mutations in the SMN1 gene and is inherited in an autosomal recessive manner.
 

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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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: 8 Mar 2010

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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

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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
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: 8 Mar 2010

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

 

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

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

Status: Not yet recruiting

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

 

Last Updated: 4 Mar 2014

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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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International SMA Patient Registry
 

Status: Recruiting

Condition Summary: Muscular Atrophy, Spinal

 

Last Updated: 2 Apr 2013

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