By: Austin White, DPT
Did you know August is Spinal Muscular Atrophy (SMA) Awareness Month? To honor SMA Awareness Month, let’s shine some light on SMA, diagnosis, treatments, and some inspiring individuals with SMA!
SMA is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement. SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein that helps the nerves that control muscle function. Deficiency of this protein causes these motor nerves not to function properly leading to debilitating muscle weakness and progressive difficulty with movement, breathing and swallowing. The different types of SMA (type 0-4) range in age of onset (infantile to adulthood) and highest motor milestone achieved.
Motor delays, or missed developmental milestones, can be initial signs of SMA. Smart Moves by the Cure SMA organization has a great resource detailing the warning signs to discuss with the doctor. Some warning signs include rapid breathing with the appearance of a bell-shaped chest, difficulty lifting arms and legs against gravity, and frog-like leg position. More information about the warning signs can be reviewed through this resource.
Physical therapy and occupational therapy play an important role in the management of SMA to maximize muscle function, activities of daily living, and participation in the community. Therapists promote the highest level of function at any point in the progression of the SMA journey. Therapy is important to decrease the risk of joint injury by maximizing range of motion to prevent contractures and to increase mobility in their environments through movement strategies, orthotics (braces), and assistive devices (standers, walkers, power or manual wheelchairs, etc.).
In addition, physical therapy is beneficial for keeping the heart healthy and promoting weight-bearing to decrease the risk of osteoporosis, a bone-weakening disease. Aquatic therapy offered at Child & Family Development is a great intervention to address all of the above for kiddos with SMA!
While there are a variety of medical treatments available, choosing treatment for SMA is a personal decision for each patient and their family based on their needs, values, and goals. Early medical treatment options have provided new hope since the approval of Spinraza in December 2016 for all types of SMA, Zolgensma in May 2019 for children under the age of two years old, and Evrysdi in August 2020 for all individuals with SMA aged two months and older.
With the support of physical therapy and occupational therapy, and peer support through organizations such as Cure SMA and the Muscular Dystrophy Association, the sky is the limit for kiddos with SMA! Please read this article to be inspired by two amazing individuals, who also happen to have SMA.
Happy SMA Awareness Month!
