Spinal muscular atrophy 1

Common Name(s)

Spinal muscular atrophy 1, Werdnig Hoffman Disease

Spinal muscular atrophy 1, also known as Werdnig-Hoffmann disease, is a severe type of spinal muscular atrophy that is evident by the time a child is 6 months old. Infants with this condition have very little muscle tone, weak muscles, and feeding and breathing problems. Mutations in the SMN1 gene cause spinal muscular atrophy type 1. It is inherited in an autosomal recessive manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinal muscular atrophy 1" 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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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 1" 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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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 1" returned 15 free, full-text research articles on human participants. First 3 results:

Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: unusual genetic mutation leading to unusual manifestation?
 

Author(s): D Maiti, M Bhattacharya, S Yadav

Journal: J Postgrad Med. ;58(4):294-5.

 

Proximal spinal muscular atrophy (SMA) or type 1 SMA is a fatal autosomal recessive disorder usually caused by homozygous deletion of exons 7 and 8 in the survivor motor neuron (SMN) gene. Additional deletion of the neuronal apotosis inhibitory protein (NAIP) gene exacerbates the ...

Last Updated: 9 Jan 2013

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Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy.
 

Author(s): Carlo Rinaldi, Laura C Bott, Ke-lian Chen, George G Harmison, Masahisa Katsuno, Gen Sobue, Maria Pennuto, Kenneth H Fischbeck

Journal:

 

Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by polyglutamine expansion in the androgen receptor. Patients develop slowly progressive proximal muscle weakness, muscle atrophy and fasciculations. Affected individuals often show gynecomastia, testicular ...

Last Updated: 19 Dec 2012

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The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
 

Author(s): Maria Eckart, Ulf-Peter Guenther, Jan Idkowiak, Raymonda Varon, Benjamin Grolle, Patrizia Boffi, Lionel Van Maldergem, Christoph Hübner, Markus Schuelke, Katja von Au

Journal: Pediatrics. 2012 Jan;129(1):e148-56.

 

Only scarce information is available on the long-term outcome and the natural course of children with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) due to mutations in the IGHMBP2 gene.

Last Updated: 2 Jan 2012

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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 1" returned 1 free, full-text review articles on human participants. First 3 results:

Respiratory management of the infant with type 1 spinal muscular atrophy.
 

Author(s): A Bush, J Fraser, E Jardine, J Paton, A Simonds, C Wallis

Journal: Arch. Dis. Child.. 2005 Jul;90(7):709-11.

 

A recent paper has highlighted the differences in the respiratory management offered to infants with type 1 spinal muscular atrophy (SMA-1). Current views appear polarised between those who would offer nothing, to those who would proceed as far even as tracheostomy and long term invasive ...

Last Updated: 22 Jun 2005

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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: 2 Aug 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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Infants With Spinal Muscular Atrophy Type I
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy

 

Last Updated: 14 Mar 2014

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