Sitra Tauscher-Wisniewski, MD, Vice President of Clinical Development & Analytics at Novartis Gene Therapies, discusses the importance of early diagnosis of spinal muscular atrophy (SMA).
SMA is a genetic disease that affects motor neurons in the spinal cord and control of muscle movement. It is caused by a mutation in the survival motor neuron gene 1 (SMN1) which affects nerve cells and leads to loss of muscle function. The codes for the SMN protein appear to play a role in regulating small nuclear ribonucleoproteins complexes. Lack of that protein leads to cellular imbalances that in turn cause the motor neuron endplates to not properly connect to muscle and the motor neurons die.
As Dr. Tauscher-Wisniewski explains, there is a consensus that the earlier a patient with SMA is given treatment, the better the outcomes are, due to the progressive nature of the disease. Treating patients pre-symptomatically with one of the treatments currently available for this disease is ideal; however, delays in diagnosis prevent this. This is why, according to Dr. Tauscher-Wisniewski, newborn screening is so crucial – so those at risk are quickly identified and tested. SMA is part of newborn screening in most states. However, some patients are missed in newborn screening, making it important for clinicians to recognize the earliest signs of SMA.
For more information about SMA and other rare neuromuscular disorders, visit checkrare.com/diseases/musculoskeletal-diseases.
