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August is Spinal Muscular Atrophy (SMA) Awareness Month, a rare but serious genetic disease that causes muscle weakness and deterioration, making basic life functions difficult.
Until recently, SMA was the most common genetic cause of death in newborns because the most severe disease occurs in the first six months of life. However, SMA affects all ages and affects approximately 1 in 10,000 people each year.
Watch the video:
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Ivano (9) was born healthy but then became seriously ill: “When he woke up in the morning I was happy but uncertain”
Although SMA is still not a curable disease, new approaches and multidisciplinary treatments have significantly improved outcomes and enhanced patients’ quality of life.
– Over the past few years, our work, the patient’s perspective and the neurology community’s view of the patient’s life and future have changed significantly. This can be attributed to causal treatment, which includes various therapies that correct the genetic defects that cause the disease and advanced medical interventions. Whereas previously we could only track the progression of the disease and helplessly measure the impending disability, today we witness every day the shifting of boundaries and new achievements of patients – explains SMA in Therapy Prof. Dr. Ervina Biliç, a neurologist specializing in the field of neuromuscular diseases.
In addition to the above, a multidisciplinary approach is vital. Teamwork of neurologists, physical therapists, speech therapists, dietitians, and other specialists is key to providing comprehensive care and support for patients. Physical therapy, respiratory therapy, speech therapy, and orthopedic care are just some of the important elements of treatment that help maintain muscle function and improve quality of life.
Daily life becomes easier for patients
Although there is no complete cure for spinal muscular atrophy, advances in science and medical treatments have slowed its progression and improved patients’ quality of life.
– I follow the development of science and waited for the progress of SMA treatment for a long time. Today, with the available therapies, we celebrate even the smallest movements of our members. For us, it’s a big deal if someone can do their own hair, tie their shoes or pick up a chair from the table. In addition, patients are increasingly participating in the life of their local community, at work, in education, in sports, etc. These are everyday activities, which most people take for granted, but for SMA patients they represent new victories – Also Marica Miriç, President of the Croatian Malnutrition Association.
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Severe SMA occurs in newborns and before treatment begins, patients are unable to breathe, eat, walk, or even sit independently, with fatal consequences in many cases.
However, with the introduction of newborn screening, spinal muscular atrophy can be detected immediately after birth and treatment can be started more effectively; in the first few days of a child’s life. Early detection through screening and prompt treatment can prevent affected children from developing severe symptoms.
Symptoms are less obvious in adulthood
In adulthood, the less severe form is most often diagnosed with milder symptoms, such as muscle weakness when the patient has difficulty raising their arms overhead when running or climbing stairs. In addition, SMA may be the cause of scoliosis or impaired breathing ability.
Although symptoms are less noticeable and more difficult to identify in adulthood, SMA is a progressive disease, meaning that if not identified and treated promptly, the disease will progress and symptoms will worsen. However, early diagnosis and adequate treatment can halt progression and reduce symptoms, allowing patients to have a better quality of life.
Diagnosis is most difficult for young people
– Teenagers are a particularly sensitive group, because due to physical difficulties they also face many emotional challenges – emphasizes Marina Magdi, president of the Kolibri Association.
– Before starting the proper multidisciplinary treatment, most of them were dependent on others for help, and daily activities and social participation were difficult for them. With today’s treatments and community support, our young people discuss career options and future plans. It is priceless to see how these young people have emerged from their illness and achieved success they could only dream of before, Magdy added.
– We are very happy and proud that most of our patients continue to improve and progress on the assessment scales. I can say that it is a great privilege to be a neurologist at this time when we witness these extraordinary findings and their application to adults with spinal muscular atrophy. Dr. Owen Billy….
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