Spinal muscular atrophy type 3

Common Name(s)

Spinal muscular atrophy type 3, Kugelberg-Welander Disease

SMA is an autosomal recessive neuromuscular disorder characterized by progressive proximal muscle weakness and atrophy affecting the upper and lower limbs. By convention, SMA is classified into 4 types: I (SMA1; {253300}), II (SMA2; {253550}), III (SMA3), and IV ({271150}), by increasing age at onset and decreasing clinical severity. SMA1 is the most severe form of the disorder and often results in death in early childhood. SMA3, known as the juvenile form, tends to show onset in childhood or adolescence (summary by {12:Fraidakis et al., 2012}).
 

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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.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 1 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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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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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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International SMA Patient Registry
 

Status: Recruiting

Condition Summary: Muscular Atrophy, Spinal

 

Last Updated: 2 Apr 2013

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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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