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.

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

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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 18 free, full-text research articles on human participants. First 3 results:

Survival of patients with spinal muscular atrophy type 1.
 

Author(s): Cesare Gregoretti, Giancarlo Ottonello, Maria Beatrice Chiarini Testa, Chiara Mastella, Lucilla RavĂ , Elisabetta Bignamini, Aleksandar Veljkovic, Renato Cutrera

Journal: Pediatrics. 2013 May;131(5):e1509-14.

 

Spinal muscular atrophy type 1 (SMA1) is a progressive disease and is usually fatal in the first year of life.

Last Updated: 2 May 2013

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Restoration of SMN to Emx-1 expressing cortical neurons is not sufficient to provide benefit to a severe mouse model of Spinal Muscular Atrophy.
 

Author(s): Alexander S Taylor, Jacqueline J Glascock, Ferrill F Rose, Cathleen Lutz, Christian L Lorson

Journal: Transgenic Res.. 2013 Oct;22(5):1029-36.

 

Spinal Muscular Atrophy (SMA), an autosomal recessive neuromuscular disorder, is a leading genetic cause of infant mortality. SMA is caused by the homozygous loss of Survival Motor Neuron-1 (SMN1). However, low, but essential, levels of SMN protein are produced by a nearly identical ...

Last Updated: 24 Sep 2013

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Clinical decision making in hypotonia and gross motor delay: a case report of type 1 spinal muscular atrophy in an infant.
 

Author(s): Kirsten Hawkins Malerba, Jan Stephen Tecklin

Journal: Phys Ther. 2013 Jun;93(6):833-41.

 

Children often are referred for physical therapy with the diagnosis of hypotonia when the definitive cause of hypotonia is unknown. The purpose of this case report is to describe the clinical decision-making process using the Hypothesis-Oriented Algorithm for Clinicians II (HOAC II) ...

Last Updated: 3 Jun 2013

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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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Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy 1

 

Last Updated: 9 Dec 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: 18 Nov 2014

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