Spinal Muscular Atrophy (SMA) is a rare, genetic neuromuscular condition that is likened to the childhood version of Motor Neuron Disease. It progressively affects the nerve cells that control muscles, resulting weakness and paralysis. The condition can be classified into 4 types, graded depending on age of onset and motor function achieved.
Type 1 is the most severe, with a high mortality rate and is diagnosed in children before 6 months. Respiratory care forms the cornerstone of maintaining quality and length of life.
Type 2 is normally diagnosed between 7 and 18 months, and children have delayed developmental milestones like sitting, crawling and standing. Scoliosis (curvature) of the spine may also complicate physical function.
Type 3 and 4 are milder forms of SMA where children often are able to walk but have difficulties with running and balance. Sometimes issues only arise when they turn into adults
Infants with Type 1 SMA can benefit from developmental play. Recent advances in drug therapy for SMA has shown some exciting and promising results. Whilst Nusinersen (Spinraza) is certainly not a cure for SMA, early studies have shown some improvement of motor function in Type 1 SMA. Paediatric neurological physiotherapists are physiotherapists with additional training and expertise in treating problems related to the brain, spinal cord, inner ear and nerves that affect childhood development.
Paediatric neurological physiotherapists can assess and teach appropriate play positions to take advantage of any potential for improvement in function. Chest physiotherapy and use of inexsufflation devices are integral in managing complications such as pneumonia in Type 1 and 2. Postural transitions and gait training may be appropriate for Type 3 and 4 to improve strength, functional skills and endurance. Knowing what one can expect over the lifetime allows important decisions to be made earlier on to reduce secondary changes associated with SMA.