Every August, since 1996, Families of Spinal Muscular Atrophy (FSMA) coordinates a national awareness month for Spinal Muscular Atrophy (SMA) to broaden the general public’s awareness and knowledge of the disease. FSMA is a non-profit organization dedicated to promoting and supporting research, helping families cope, and educating the public and the medical community about SMA. According to FSMA, “the majority of people do not know about SMA until it directly affects their family.” Raising awareness leads to additional resources for SMA research and better care for SMA patients.
What is Spinal Muscular Atrophy and What Causes it?
- Spinal Muscular Atrophy (SMA) is a motor neuron disease that affects the voluntary muscles used for activities such as crawling, walking, head and neck control, and swallowing. According to FSMA, spinal muscular atrophy is the number one genetic killer of children under the age of two with one in every 6,000 babies born with the disease, and 7.5 million Americans as carriers. Unfortunately, there is currently no treatment or cure for SMA.
- SMA is an autosomal recessive genetic disease. Autosomal recessive means that two copies of an abnormal gene must be present in order for a disease or trait to develop. Therefore, in order for a child to be affected by SMA, both parents must be carriers of the abnormal gene and both must pass this gene on to their child. Even if both parents are carriers, the likelihood of a child inheriting the disorder is 25 percent, or 1 in 4.
- There are four types of SMA, SMA Type I, II, III, and IV. Children with SMA are typically grouped into one of these four categories based on certain key motor function milestones. It is important to note that the course of the disease may be different for each child.
- Children with SMA typically lose muscle function over time, but this loss of function can be gradual or occur rapidly in the context of a growth spurt or illness. According to FMSA’s recent research, the explanation for this loss is unclear, but it has been observed that patients with SMA may often be very stable in terms of their functional abilities for prolonged periods of time, often years, but as they age the loss of function continues at some rate.
If someone you love is living with SMA and they or their family needs assistance at home, contact your local Maxim Healthcare Services office to learn more about how we can help with activities of daily living and in-home nursing needs.
This information is not meant as a substitute for professional medical or nutritional advice and consultation. When differences exist between the information here and information given to you by your healthcare provider(s), you should follow the advice of your healthcare provider(s). Any additional information or clarification needed should be sought from the Physician, Practitioner, Speech Pathologist, or Nutritionist who is familiar with the individual’s health and medical conditions.