Despite there being lots of advancements aiming at knowing the exact genetic mechanism responsible for SMA earlier in order to allow prompt management and to provide a better quality of life for children and adults living with such a debilitating condition, there has not been much progress in treating its original cause – i.e. abnormal nerve proteins. Current treatments only aim to alleviate or prevent possible complications from this muscle weakness such as (1, 3):

Pulmonary/Respiratory support: These supportive measures include educating parents about the course of the disease and its possible complications, and anticipating/predicting respiratory symptoms early on to prevent their progression. Such measures include routine immunization against common respiratory infections and learning how to properly assist children while coughing to prevent them from acquiring aspiration or infections. Mechanical ventilation might be needed in people with severe symptoms and frequent infections.

Nutritional support: This involves giving children with swallowing and/or feeding difficulties semi-solid diets to compensate for their lack of adequate chewing and gastrointestinal problems. Some children with severe nutritional difficulty might require gastrostomy placement (an external opening into the stomach for direct stomach feeding).

Movement support: This involves multidisciplinary treatments aiming to improve the quality of life of people with SMA and allow them to reach their full potential and maintain some level of independence. Some examples include using walking/movement aids such as wheelchairs and standing frames. Physiotherapy and aquatic therapy and swimming training might also be used to improve muscle endurance. In some patients with associated positional deformities (ex. scoliosis or sideward bending of the spine), they might benefit from orthopedic surgical correction of the deformity to allow better posture and range of movement.

Gene therapy: This is a novel form of therapy which involves intravenous or oral administration of the “genetically-modified” functional form of the SMN gene – which is the originally defective gene in SMA. However, this treatment is still novel and quite expensive; with some commercially-available drugs requiring maintenance yearly –or even more frequent – injections for life-time to maintain the obtained benefits. This creates a major financial burden for most individuals till this time since not all countries cover its use within insurance policies; and even if sometimes it is covered by insurance, it is usually associated with strict inclusion guidelines restricting its use in many infants with SMA. Another problem seen with this treatment is that not all SMA patients are eligible to receive it and that it might be associated with some side effects including elevated liver enzymes and bone marrow suppression in many of the treated individuals – which might be a problem when used in such young patients (4, 5).

As you can see, all of these treatments are solely supportive or rehabilitative in nature, and even the newly-produced forms of gene therapy still have a long way before becoming more readily available for the public and before having better data regarding their long-term efficacy as well as its side effect profile.