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Spinal muscular atrophy (SMA), a disease of the anterior horn cells located in the spinal cord that affects the voluntary muscles for activities such as walking and swallowing, is the No. 1 killer of children under the age of 2 years old.
One in every 40 people is a carrier, and one child in every 6,000 live births is affected. Since it is a rare genetic disease, not many people are aware of SMA, says Audrey N. Lewis, executive director of Families of Spinal Muscular Atrophy based in Libertyville, IL. That’s why the organization named August as Spinal Muscular Atrophy Awareness Month.
When people are aware of SMA, they can decide whether they want genetic testing prior to having children, says Lewis. Both parents must be carriers, and each must pass the gene on to their child in order for the child to be affected by SMA. When both parents are carriers, the likelihood of having a child affected by SMA is 25%, or one in four children. Families of SMA recommends that couples who are carriers seek genetic counseling so that they understand the risk before having a child.
Another good reason for publicity is that people who are aware of SMA are more apt to contribute to the research being done to find a cure or treatment, says Lewis. Since the organization was founded, the research it has funded led to the mapping and cloning of the gene responsible for SMA, identifying the protein, development of carrier testing, and initiating the collaboration of scientists from around the world with an annual international SMA research group meeting. "The most exciting breakthrough is the finding that by replacing large amounts of the SMN2 protein in mice, spinal muscular atrophy could be prevented or reversed," says Lewis.
Types reveal prognosis
The severity of the disease depends on its type. Children with Type I, or acute SMA, never are able to lift their heads. Also, feeding and swallowing may be extremely difficult and breathing can be labored because of reduced strength in the chest muscles. Repeated respiratory infections make the prognosis poor and children usually die within the first two years of life.
Children with Type II, or chronic SMA, are able to sit unsupported but often need to be helped into a sitting position. If they walk, it is with the aid of bracing. Like children with Type I SMA, weakened chest muscles make them prone to respiratory infections such as pneumonia. Age of death varies greatly with Type II SMA, and while some children die at age 3, others survive into adulthood. Respiratory infection is usually the cause of death.
The prognosis is good for children with Type III SMA, and they often are functional for years before needing assistance. Type IV is adult-onset SMA with symptoms usually occurring after age 35.
For infants, children, and adults living with SMA Types I and II, each movement is an effort. "Those fortunate enough to have achieved some independence such as feeding themselves, writing, or playing wheelchair sports must also deal with the need for total personal care. They cannot dress, bathe, or toilet themselves or turn over and reposition themselves at night," says Lewis. Care-givers often are exhausted because they are awa-kened all night long to assist the child in the repositioning process.
Relatives and friends should be encouraged to baby-sit for a couple hours so parents can get away. It’s also important that they refrain from critiquing the decisions parents make in the care of the child. "Families need support. Living with SMA is very different than reading about it," says Lewis.
Families who have a child diagnosed with SMA need to know their options and all the issues they may have to deal with. For example, most children with Type I and II SMA develop scoliosis, a sideways curvature of the spine that results in an "S" shape of the back. Although certain therapies do help, such as physical and respiratory therapy, parents must prepare for the financial impact SMA has. Most often children need an aide in order to go to school.
To promote education during Spinal Muscular Atrophy Awareness Month, Families of SMA have brochures, literature, and posters available. They also have a 10-minute educational video that can be borrowed. n
For more information about SMA, or for materials to support educational efforts during Spinal Muscular Atrophy Awareness Month, contact:
• Audrey N. Lewis, Executive Director, Families of Spinal Muscular Atrophy, P.O. Box 196, Libertyville, IL. Telephone: (800) 886-1762. Fax: (847) 367-7623. E-mail: firstname.lastname@example.org. Web: www.fsma.org.