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Copyright 1985, 1986, 1987, 1988, 1989, 1992, 1994, 1995, 1997, 1999, 2000, 2003, 2007, 2008
NORD is very grateful to Barry S. Russman, MD, Professor of Pediatrics and Neurology, Oregon Health Sciences University and Shriners Hospital for Children, for assistance in the preparation of this report.
Synonyms of Werdnig Hoffman Disease
- Infantile Spinal Muscular Atrophy
- SMA 1
- SMA, Infantile Acute Form
- Spinal Muscular Atrophy Type 1
- Werdnig-Hoffman Paralysis
Disorder Subdivisions
General Discussion
The spinal muscular atrophies (SMAs), are characterized by degeneration 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) leading to muscle weakness of the truncal, and extremity muscles initially, followed by chewing, swallowing and breathing difficulties. 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 percent of individuals with SMA fall into the severe category (Werdnig-Hoffman disease or 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. Abdominal breathing is noted when the abdomen protrudes during inspiration. Normally, the chest expands during inspiration as the intercostal muscles (the muscles between the ribs) expand during inspiration. Abdominal breathing occurs when the intercostal muscles are weak and the diaphragm muscle is responsible for inspiration. Movement of the diaphragm (the muscle between the chest and abdomen) expands causing the abdomen to move during the inspiration cycle. A twitching of the tongue is often seen. Cognitive development is normal. Most affected children die before 2 years of age but survival may be dependent on the degree of respiratory function and respiratory support.
The different subtypes, SMA 0-4 are based on the age of onset of symptoms and the course and progression of the disease. SMA represents a continuum or spectrum of disease with a mild end and a severe end. SMA0 patients are extremely weak a birth, require immediate artificial ventilation and will never breathe independently. Werdnig-Hoffman disease, which is also known as spinal muscular atrophy type 1 (SMA1) or acute spinal muscular atrophy, refers to individuals who have symptom onset prior to 6 months of age. SMA 2 patients will show symptoms prior to age 1 year, will sit but never walk. SMA 3 patients (Kugelberg-Welander disease) will show symptoms after age 1, and will walk for a period of time prior to loss of motor abilities. SMA 4 patients will not develop symptoms much before age 10 years.
All the SMAs are inherited as an autosomal recessive trait. Molecular genetic testing has revealed that all types of autosomal recessive SMA are caused by disruptions or errors (mutations) in the SMN1 (survival motor neuron 1) gene on chromosome 5
Organizations related to Werdnig Hoffman Disease
- Child Neurology Foundation
2000 West 98th Street
Bloomington MN 55431
Phone #: 952-641-6100
800 #: 800-263-5430
e-mail: jstone@childneurologyfoundation.org
Home page: http://www.childneurologyfoundation.org
- Families of Spinal Muscular Atrophy
925 Busse Road
Elk Grove Village IL 60007
Phone #: 847-367-7620
800 #: 800-886-1762
e-mail: sma@fsma.org
Home page: http://www.curesma.com
- FightSMA/Andrew's Buddies Corporation
1807 Libbie Avenue
Suite 104
Richmond VA 23226
Phone #: 804-515-0080
800 #: N/A
e-mail: heatherlennon@fightsma.com
Home page: http://www.fightsma.org/
.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Jennifer Trust for Spinal Muscular Atrophy
Elta House
Birmingham Road
Stratford upon Avon
Warwickshire None CV37 0AQ
Phone #: +44- (0-)1789 267 520
800 #: (80-0) -975-3100
e-mail: jennifer@jtsma.org.uk
Home page: http://www.jtsma.org.uk
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson AZ 85718
Phone #: 520-529-2000
800 #: 800-344-4863
e-mail: mda@mdausa.org
Home page: http://www.mdausa.org
- Muscular Dystrophy Campaign
61 Southwark Street
London None SE1 0HL
Phone #: 020- 78-03 4800
800 #: --
e-mail: info@muscular-dystrophy.org
Home page: http://www.muscular-dystrophy.org
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
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