Werdnig Hoffman Disease

Important
It is possible that the main title of the report Werdnig Hoffman Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

Infantile Spinal Muscular Atrophy
SMA 1
SMA, Infantile Acute Form
Spinal Muscular Atrophy Type 1
Werdnig-Hoffman Paralysis

Disorder Subdivisions

None

General Discussion

Werdnig Hoffmann disease is a type of spinal muscular atrophy. It is a rare, inherited progressive neuromuscular disorder of infancy characterized by degeneration of groups of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells). Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or brain (central nervous system) to muscle or glandular tissue.

Approximately 80% of SMA falls into the severe category (SMA1). Infants with SMA1 experience severe weakness before 6 months of age, and the patient never achieves the ability to sit independently when placed. Muscle weakness, lack of motor development and poor muscle tone are the major clinical manifestations of SMA1. Infants with the gravest prognosis have problems sucking or swallowing. Some show abdominal breathing in the first few months of life. Muscle weakness occurs on both sides of the body and the ocular muscles are not affected. A twitching of the tongue is often seen. Intelligence is normal. Most affected children die before 2 years of age but survival may be dependent on the degree of respiratory function.

For infants who appear to develop normally during the first months of life, muscles of the pelvic, trunk, and shoulder areas may initially appear to be disproportionately affected. With disease progression, diminished muscle tone and weakness may gradually spread to affect almost all voluntary muscles, with the exception of certain muscles controlling movements of the eyes.

Infants with Werdnig Hoffmann disease may lack head control, may be unable to roll over or support their weight, and tend to lie relatively still, with little or no movement (flaccid paralysis). In addition, they may develop difficulties sucking, swallowing, and breathing; have an increased susceptibility to respiratory infections; or develop other complications that may lead to potentially life-threatening abnormalities within the first months or years of life. For infants who appear to have normal development for several months prior to the onset of muscle weakness, the disorder may tend to have a more slowly progressive course.

Werdnig Hoffmann disease is inherited as an autosomal recessive trait. Molecular genetic testing has revealed that all types of autosomal recessive SMA are caused by mutations in the SMN (survival motor neuron) gene on chromosome 5. Deletion of the NAIP (neuronal apoptosis inhibitory protein) gene that is close to the SMN gene is also associated with SMA. More patients with Werdnig Hoffman disease (SMA1) than other types of SMA have NAIP deletions. The relationship between specific mutations in the SMN gene and nearby genes and the severity of SMA is still being investigated so classification of SMA subdivisions is based on age of onset of symptoms as opposed to the genetic profile.
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Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Families of Spinal Muscular Atrophy
P.O. Box 196
Libertyville, IL 60048
Tel: (847)367-7620
Fax: (847)367-7623
Tel: (800)886-1762
Email: sma@fsma.org
Internet: http://www.curesma.com

Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson, AZ 85718
USA
Tel: 5205292000
Fax: 5205295300
Tel: 8003444863
Email: mda@mdausa.org
Internet: http://www.mdausa.org

Muscular Dystrophy Campaign
7-11 Prescott Place
London, SW4 6BS
United Kingdom
Email: info@muscular-dystrophy.org
Internet: http://www.muscular-dystrophy.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Jennifer Trust for Spinal Muscular Atrophy
Elta House
Birmingham Road
Stratford-upon-Avon
Warwickshire, CV37 0AQ
United Kingdom
Tel: 0870 7743651
Fax: 0870 7743652
Email: jennifer@jtsma.org.uk
Internet: http://www.jtsma.org.uk

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 1/3/2007
Copyright 1985, 1986, 1987, 1988, 1989, 1992, 1994, 1995, 1997, 1999, 2000, 2003 National Organization for Rare Disorders, Inc.

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