Early Screening for Spinal Muscular Atrophy
Paving the Way to a Brighter Future for Patients and Families
Spinal Muscular Atrophy (SMA) is a genetic disorder that leads to muscle weakness and atrophy. The condition arises when motor neurons in the spinal cord and brain are damaged, preventing muscles from receiving the necessary signals to function properly. For families with a child diagnosed with SMA, the journey can be challenging, with many concerns about the child’s future.
With SMA affecting 1 in 10,000 births globally each year, understanding this condition is essential. Early detection is a game-changer, offering crucial support and potentially transforming the journey for both patients and their families.
Spinal Muscular Atrophy
SMA is classified into several types, ranging from Type 1 to Type 4, with symptoms manifesting at different ages. Type 4 typically appears in adulthood. Most cases are progressive and become chronic over time. However, generally speaking, the later the symptoms appear, the better the motor function outcomes.
It is important to note that screening can be performed at during pregnancy and infancy. Early detection can significantly alter the course of disease progression by reducing irreversible loss of motor functions, thus, improving outcomes and reducing the disease burden. Once detected, there are treatments that can help patients manage the condition.
According to Professor Thong Meow Keong, Clinical Geneticist and Pediatrician at the University of Malaya Medical Centre, SMA can be detected early, even in newborns, which is vital for determining early intervention and treatment for the patient.
“Newborn screening for SMA can help identify infants with SMA before they show symptoms. This allows for evaluation and treatment to commence before the disease progresses, offering a brighter future for the patient.”
“Patients may present with clear symptoms at birth, which may include excessive weakness, low muscle tone, and reduced limb movements. Symptoms of SMA Type 1, the most common type, can be detected within the first six months of life, and patients with this condition do not gain the ability to sit independently,” he said.
Treatment
Early detection of SMA is crucial for timely intervention, as infants with the most severe form of SMA may not survive beyond their first birthday. Families facing the challenges of SMA require expert medical care and the best possible support. Each case demands careful attention, a tailored treatment plan, and a robust support system to help families navigate this difficult journey.
A survey investigating treatment preferences among SMA patients revealed that most parents favor a single IV treatment over multiple intrathecal doses.
Function of Disease-Modifying Therapies
Recent advancements in SMA treatment include gene therapy. The primary function of Disease-Modifying Therapies (DMT) is to increase SMN protein levels in lower motor neurons. A single gene replacement therapy for SMA, onasemnogeneabeparvovec-xioi, works by delivering a copy of the SMN1 gene into the cells, while nusinersen and risdiplam modify the production of the SMN2 gene, increasing the amount of functional SMN protein.
“The effectiveness of gene therapy depends on the stage at which SMA is first treated. Patients with pathogenic changes in the SMN1 gene but have yet to show symptoms can be considered cured when treated with gene therapy. This is based on studies where gene therapy was first used for SMA in 2014. The research indicates that children treated with gene therapy in the presymptomatic stage achieve stability in their motor function and retain the ability to walk,” he said.
In conclusion, Prof Thong added, treatment should be based on the clinical context and tailored to the patient’s needs. Therefore, treatment decisions are not solely the doctor’s responsibility —parents’ wishes and decisions should also be considered. Most parents opt for treatment that involves the least risk and the most convenient method of drug administration.
“With the support of the medical team and advice from patient support groups, families can make informed decisions about the most suitable treatment options for their child. Since gene therapy is administered only once in a lifetime, many parents prefer it due to its long-term benefits,” he added.
Read more Business News