SMA: A life-changing diagnosis
SMA, or spinal muscular atrophy, is a serious genetic disease that affects the musculoskeletal system and gradually weakens the patient's muscles. It affects approximately one child in 6,000 and up to 1 in 40 people are carriers of the disease.
How does SMA affect patients' musculoskeletal system? What are the treatment and care options? How can physiotherapy help slow the progression of the disease and what are the biggest challenges in caring for patients with SMA?
The answers to these questions were provided by MUDr. Oľga Boldišová, who has been dealing with patients with SMA for a long time, and MUDr. Marián Markech, MPH, our medical director.
What is SMA and how does it affect patients' musculoskeletal system?
Spinal muscular atrophies (SMA) are a group of autosomal recessively inherited diseases characterized by progressive degeneration of alpha motoneurones in the anterior spinal cord horns. This process leads to atrophy and concomitant retardation of motor development, respiratory abilities and in some cases also affects swallowing ability.
The disease is caused by a homozygous mutation in the SMN1 (survival of motor neuron) gene, which is located on the long arm of the chromosome. In healthy individuals, the SMN1 gene encodes the SMN protein and plays an essential role in motoneuron survival. However, in patients with SMA, mutations in the SMN1 gene result in impaired function, leading to SMN protein deficiency and subsequent degeneration of nerve cells.
How is it diagnosed and what are the first signs parents should look out for?
Symptoms of SMA depend on its type, but most often the disease manifests itself in a slowing of motor development, while the child's psychological development remains preserved. Regression of motor skills is also a common symptom - a child who has already reached a certain motor milestone, such as sitting or standing, will gradually begin to lose these skills.
Diagnosis of SMA involves a comprehensive clinical examination by a paediatric neurologist, which is then complemented by investigations at a neuromuscular disease centre. Laboratory testing, electromyography (EMG) to assess muscle function and genetic analysis are also part of the diagnostic process.
What are the treatment and care options for SMA patients?
The treatment of SMA is complex and involves multiple approaches:
✔ Medical treatment - gene therapy plays a key role, which focuses on correcting the genetic deficiency.
✔ Comprehensive rehabilitation
✔ Nutritional support - nutritional care and, if necessary, insertion of a percutaneous endoscopic gastrostomy (PEG).
✔ Prosthetic devices
✔ Non-invasive ventilation in case of breathing difficulties
✔ Orthopaedic and surgical treatment - addresses the most common problems such as scoliosis or hip dysplasia.
✔ Orofacial stimulation - helps improve the function of the muscles in the facial area.
What is the role of physiotherapy in the care of patients with SMA and what are its goals?
Physiotherapy plays a vital role in the care of patients with SMA. It aims to:
✔ Maintain the patient's functional abilities - prevent muscle weakness and maintain as much mobility as possible.
✔ Optimize muscle coordination and timing - to help the patient use the muscles that are still functional more efficiently.
✔ Slow down the manifestations of the disease.
✔ Prevent the development of scoliosis and other spinal deformities.
✔ Improve breathing stereotype - special breathing techniques promote more efficient breathing and strengthen the breathing muscles.
What methods and techniques are most commonly used in the rehabilitation of patients with SMA?
Medical rehabilitation is primarily aimed at maintaining and improving the patient's functional abilities. It must be continuous, regular and systematic. The earlier therapy is started, the better results can be achieved.
We do not work with only one methodology - we always adapt the rehabilitation plan to the patient's current condition and individual needs. We combine the different methods with each other, and respiratory handling is an important part of the therapy. This technique represents a full-day care of respiratory movement and is used especially for newborns, infants and toddlers. It is a combination of a manually assisted breathing pattern with correct whole-body alignment to promote more efficient breathing and prevent complications.
At what frequency should patients undergo physiotherapy exercises?
Rehabilitation is an integral part of treatment and is an ongoing process. Patients should rehabilitate daily, and the regularity and longevity of therapy plays a vital role in maintaining their movement abilities.
At Hendi Medical Center, we therefore offer intensive rehabilitation stays to which patients regularly return throughout the year. Our goal is to create a supportive and motivating environment where we can help patients achieve the best possible quality of life.
Life with SMA is not easy, but with the support of loved ones, the right treatment and expert care, patients can lead more active and fulfilling lives. Early diagnosis, modern therapeutic approaches and regular rehabilitation are key to help slow the progression of the disease and preserve as much mobility as possible.
At Hendi, we believe that every person is unique. That's why we always approach each patient individually and tailor therapies to their needs - taking into account the type of SMA, disease progression, current health status and functional abilities.
Our goal is to create an environment where patients feel comfortable and motivated, and where we can help them maintain or improve their motor function. Our top-notch professionals work closely with families and caregivers - providing them with the necessary education, hands-on training and psychological support along their journey of caring for a loved one.
Do you have questions or would you like a consultation about rehabilitation options? Do not hesitate to contact us by e-mail at info@hendicentrum.com or by phone at +421 917 722 241.
With us, you are never alone.