New Report Recommends SMA Carrier and Perinatal Screening

Screening for spinal muscular atrophy (SMA) in high-risk groups could greatly reduce the impact of the disease, according to a new article published by researchers in Ottawa. The report, “Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy,” was published in the journal Neuromuscular Disorders.

The costs of treating for SMA are high, with over $1 billion per year spent in the United States. Screening and identification of SMA might lead to early interventions that can reduce the impact of this disease, and ultimately could aid in SMA prevention.

SMA is an incurable neurological disorder, most commonly caused by a mutation of the SMN1 gene on chromosome 5. When the SMN1 gene is mutated, there is a deficit of a motor neuron protein called survival of motor neuron, a critical protein for motor neurons’ functionality. SMA is classified into types 1 through 4 to account for the variability in symptoms and onset age. Several types of SMA exist and each may be associated with different gene mutations.

Screening can include genotyping to look for gene mutations. Although universal prenatal testing might be expensive, specific screening of those individuals who are at risk for SMA might aid in SMA treatments, reducing disability and the cost of healthcare. Higher risk groups include those with a family history of SMA.

Although there is no SMA cure, respiratory care, physiotherapy, and nutritional counseling can help to reduce disease symptoms and increase the life span of people suffering from SMA.

According to Joseph K. Burns and his colleagues, early identification will ultimately help prevent motor neuron loss. However, there is no drug currently available to treat SMA, though several are in clinical trials.

The authors emphasize in their report that targeted screening could greatly lessen the impact of the disease on symptoms, quality of life and healthcare costs, noting that “spinal muscular atrophy can cause tremendous suffering – physical, financial, and emotional – to the patient and the family of the affected individual. Currently, from an economic perspective, universal testing for SMA does not appear a viable choice. However, testing of individuals at high risk, such as those with a family history of SMA, is prudent.”