Spinal Muscular Atrophy
Information Page
Publications |
NINDS is part of the
National Institutes of
Health
See a list of all NINDS Disorders
Get Web page suited for printing
Email this to a friend or colleague
Request free mailed brochure
Table of Contents (click to jump to sections)
What is spinal muscular atrophy?What is spinal muscular atrophy? Spinal muscular atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting
of the voluntary muscles in the arms and legs of infants and children.
The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene (SMN1), which is responsible
for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate
and die.
The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I has the earliest onset,
usually at birth, and the most severe symptoms. Type II usually happens in early childhood and is less severe but still disabling.
Type III can happen as late as adolescence and may be only moderately disabling.
There are other types of SMA disorders with similar symptoms, but different causes. Infantile SMA disorders, such as X-linked
infantile SMA, SMA with cerebellar hypoplasia, diaphragmatic SMA, and SMA with congenital bone fractures are linked to genes
other than SMN1. Kennedy syndrome (X-linked spinal and bulbar muscular atrophy, SMAX1), a disease of adult males, has symptoms
similar to the childhood SMAs, but is caused by a different gene and genetic mutation.
What are the symptoms of SMA in children?
How is SMA diagnosed in children? A blood test is available that can indicate whether there are deletions or mutations of the SMN1 gene. This test identifies
at least 95 percent of SMA Types I, II, and III. Other diagnostic tests may include electrodiagnosis with nerve conduction
velocities (EMG), and muscle biopsy.
Are there treatments for SMA? There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications. Treatment for specific
symptoms and common complications are described below.
Breathing issues: Babies with SMA (especially those with Type I) may need help breathing, especially at night, using non-invasive methods
that include negative pressure ventilators and bi-level positive airway pressure support, which direct air through the nostrils
via a small, gently-fitted mask. Children who survive their first two years are at risk for complications involving the lungs,
which may not be fully developed. A regular program of respiratory therapy and breathing exercises is helpful. Parents should
be instructed in chest physiotherapy (CPT), a series of physical maneuvers that clear the lungs and airway.
Failure to thrive: Infants with SMA I may have difficulties getting adequate nutrition because they have a weak sucking reflex and tendency
to tire easily. Their unprotected air passage makes it difficult for older babies to chew and swallow; they may inhale and
choke on their food. Some babies may require feeding with naso-gastric or gastric tubes.
Weak arms and legs: Children with SMA Types I and II are not likely to stand or walk on their own. They can be taught to operate a power wheelchair
at two to three years of age. Less handicapped children may benefit from a standing frame, vertical stander, or standing wheelchair.
Physical therapy and exercise may also help improve mobility and joint movement, brighten mood, and improve sleep patterns.
Stretching exercises can preserve and increase flexibility.
Orthopedic complications. Scoliosis (curvature of the spine) occurs at some point in the majority of children with SMA Types I and II, and some with
Type III. Custom seating systems, seating aids, and a body jacket can be used to prevent severe scoliosis. Spinal fusion surgery
may be necessary for some children.
What is the prognosis? The prognosis is poor for babies with SMA Type I. Most die within the first two years. For children with SMA Type II, the
prognosis for life expentancy or for independent standing or walking roughly correlates with how old they are when they first
begin to experience symptoms - older children tend to have less severe symptoms. Some children may have a normal life expectancy
and learn to walk with the aid of a brace. Others may die from respiratory infections, such as pneumonia. Children with onset
after 18 months are often able to walk and are fully functional for years before they need assistance. They may have a normal
life expectancy.
What research is being done? The National Institute for Neurological Disorders and Stroke (NINDS) conducts research on SMA in laboratories at the NIH and
also supports research through grants to major medical institutions across the country.
For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute's Brain Resources and Information Network (BRAIN) at:
BRAIN
P.O. Box 5801
Bethesda, MD 20824
(800) 352-9424
http://www.ninds.nih.gov
Information also is available from the following organizations:
FightSMA/Andrew's Buddies 1807 Libbie Avenue Suite 104 Richmond, VA 23226 heatherlennon@fightsma.com http://www.fightsma.org Tel: 804-515-0080 Fax: 804-515-0081 |
Families of Spinal Muscular Atrophy P.O. Box 196 Libertyville, IL 60048-0196 info@fsma.org http://www.curesma.org Tel: 847-367-7620 800-886-1762 Fax: 847-367-7623 |
Spinal Muscular Atrophy Foundation 888 Seventh Avenue Suite 400 New York, NY 10019 info@smafoundation.org http://www.smafoundation.org Tel: 877-FUND-SMA (877-386-3762) 646-253-7100 Fax: 212-247-3079 |
Muscular Dystrophy Association 3300 East Sunrise Drive Tucson, AZ 85718-3208 mda@mdausa.org http://www.mda.org Tel: 520-529-2000 800-344-4863 Fax: 520-529-5300 |
Back to Spinal Muscular Atrophy Information Page
See a list of all NINDS Disorders
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Last updated July 09, 2008