Spinal muscular atrophy type 1

Common Name(s)

Spinal muscular atrophy type 1, Werdnig Hoffman Disease, SMA1

Spinal muscular atrophy type 1 (SMA1), also known as Werdnig-Hoffman disease, is one type of a group of conditions known as spinal muscular atrophies (SMAs). SMAs are inherited disorders that cause a child to lose a specific type of cell in their spinal cord (motor neurons) and a part of their brain that is connected to the spinal cord (brain stem). Without these important parts of the brain and spinal cord, an affected child loses control of muscle movement, has muscle weakness, and loses muscle tissue (atrophy). The symptoms of SMA1 first appear at birth or in the first few months of life. Affected babies cannot hold up their head or sit upright. The muscle weakness usually leads to breathing or swallowing issues (bulbar dysfunction). Affected babies have poor muscle tone and have delays in development. This is a serious condition and most affected children do not live past the age of 2 years.

SMA1 is caused by changes (mutations) in the SMN1 gene. This gene provides instructions to make a protein that helps motor neurons work. Motor neurons are cells that send signals from the brain to the muscles. When there are mutations in the SMN1 gene, the motor neurons die off, leading to the symptoms of this condition. SMA1 is inherited in an autosomal recessive way, which means a child must have a mutation in both copies of their SMN1 gene to have the condition.

SMA1 is usually considered in a child who has significant muscle weakness in the first few months of life. Genetic testing of the SMN1 gene is used to confirm the diagnosis. There is no cure for SMA1. Treatments for SMA1 include efforts to maintain the quality of life for an affected baby. These treatments may include support for breathing and feeding. If your child has been diagnosed with SMA1, support groups can help connect you with other affected families.

Source: Advocacy organizations associated with the condition.

 

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: 15 Jul 2015

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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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General Support Organizations

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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.

Logo
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: 15 Jul 2015

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

iPSC-Derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1.
 

Author(s): Chiara Simone, Monica Nizzardo, Federica Rizzo, Margherita Ruggieri, Giulietta Riboldi, Sabrina Salani, Monica Bucchia, Nereo Bresolin, Giacomo P Comi, Stefania Corti

Journal: Stem Cell Reports. 2014 Aug;3(2):297-311.

 

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a motor neuron disease caused by mutations in the IGHMBP2 gene, without a cure. Here, we demonstrate that neural stem cells (NSCs) from human-induced pluripotent stem cells (iPSCs) have therapeutic potential in the ...

Last Updated: 26 Sep 2014

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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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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

Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy 1

 

Last Updated: 17 Aug 2015

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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: 20 Jul 2015

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