Spinal muscular atrophy type 1

Common Name(s)

Spinal muscular atrophy type 1, Werdnig Hoffman Disease, SMA1

Spinal muscular atrophy 1 (SMA1), also known as Werdnig Hoffmann disease, is a severe type of spinal muscular atrophy. Symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower motor neurons in the spinal cord and brain stem. Feeding and breathing problems are also present. SMA1 is caused by changes (mutations) in the SMN1 gene and is typically inherited in an autosomal recessive manner. Around 2% of cases are not inherited and are due to new mutations in the affected person. Treatment is symptomatic and aims to improve quality of life.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinal muscular atrophy type 1" 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: 8 Mar 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinal muscular atrophy type 1" 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.

http://www.csma.org.ua

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.

http://www.mdausa.org

Last Updated: 8 Mar 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 1" returned 10 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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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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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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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 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

Infants With Spinal Muscular Atrophy Type I
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy

 

Last Updated: 11 Nov 2014

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An Open-label Study of LMI070 in Type 1 Spinal Muscular Atrophy (SMA)
 

Status: Recruiting

Condition Summary: Muscular Atrophy, Spinal [C10.668.475]

 

Last Updated: 10 Apr 2015

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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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