“ Spinal muscle atrophy (SMA) is a rare but extremely serious genetic disease that affects the nerve cells of the spinal cord responsible for movement. This leads to progressive weakness and muscle atrophy, which can eventually affect the ability to walk, swallow and even breathe. However, modern medicine is not in place. In recent years there has been a real breakthrough”, – WRITE ON: ua.news
Spinal muscle atrophy (SMA) is a rare but extremely serious genetic disease that affects the nerve cells of the spinal cord responsible for movement. This leads to progressive weakness and muscle atrophy, which can eventually affect the ability to walk, swallow and even breathe.
However, modern medicine is not in place. In recent years, there has been a real breakthrough in the treatment of SMAs, innovative drugs have emerged that can stop or significantly slow down the progression of the disease, giving patients a chance for a full life. In Ukraine, despite all the challenges, programs for support and access to these vital medicines are also actively developing.
We tell you what the sas are, what are its symptoms, how the diagnosis is, as well as, whether state aid for SMA patients is and how to get it.
What is SMA (spinal muscle atrophy)?
Spinal muscular atrophy (SMA) is a rare hereditary neuromuscular disease that is characterized by progressive loss of motoneurons in the spinal cord and brain stem. These motoneurons are responsible for the transmission of signals from the brain to the muscles, controlling arbitrary movements, such as walking, crawling, sitting, head movements, as well as swallowing and breathing.
The main cause of SMA is the mutation or absence of the SMN1 gene (Survival Motor Neuron 1). This gene is responsible for the production of SMN (Survival Motor Neuron), which is critical for the survival and normal functioning of motoneurons. When the SMN1 gene does not function properly, the SMN protein is produced, which leads to gradual dying of motoneurons.
It is important to note that there is also a SMN2 gene, which is a genome dubler and can produce a small amount of SMN functional protein. The number of copies of the SMN2 gene affects the severity of the disease: the more copies of SMN2 the person has, the more SMN protein is produced and the easier the form of SMA can be.
SMA is classified by types, depending on the age of the onset of symptoms and the maximum level of motor skills achieved:
- Type 1 SMA (Verdnig-Hoffman’s disease): It is the most severe form, the symptoms of which are manifested up to 6 months of life. Children with this type of sas can never sit on their own, have significant muscle weakness, swallowing and breathing problems. Without treatment, the prognosis is unfavorable.
- Type 2 SMA (intermediate form): symptoms usually appear between 6 and 18 months. Patients with type 2 can learn how to sit on their own, but they can usually not stand or walk on their own. Muscle weakness progresses with age.
- Type 3 (Kugelberg-Velander’s disease): This form has a later start, usually after 18 months, and sometimes even in adolescence. Type 3 people can walk on their own, but may lose this ability over time. The progression of the disease is slower.
- Type 4 (adult form): This is the most rare and lightest type of SMA, which is manifested in adulthood. Symptoms usually begin after 30 years and include mild or moderate muscle weakness and tremor, which progress very slowly.
Understanding these types helps doctors to determine the prognosis and develop an individual treatment plan for each patient.
Symptoms and diagnosis of SMA
Symptoms of spinal muscle atrophy vary significantly depending on the type of disease and age of the beginning, but their common feature is progressive muscle weakness and atrophy. It is important to be careful to the first signs, as early diagnosis is critical for timely treatment.
General symptoms of SMA
Progressive muscle weakness: This is the main and most obvious symptom. It begins with the proximal (closer to the center of the body) muscles, such as the muscles of the thighs, shoulders, back, and then extends to the distal (further from the center) muscles.
Muscle atrophy (Reduction): Muscles become smaller and flabby due to lack of nervous stimulation.
Reduction or absence of reflexes: This is especially noticeable for tendon reflexes.
Trembling of extremities (Fasciculation): Small, involuntary twitching of muscles that can be noticeable under the skin, especially in the tongue.
Problems with motor skills: SMA children may be delayed in reaching the motor stages of development (such as holding their heads, turning, sitting, crawling, walking) or losing their skills.
Swimming problems .
Breathing problems: Weakness of respiratory muscles can lead to frequent respiratory infections, surface breathing, difficulty coughing. In the most severe cases, respiratory support is required.
Scoliosis: The curvature of the spine often develops because of the weakness of the back muscles that support the spine.
Features of manifestation of symptoms depending on the type of SMA
Type 1 SMA: Symptoms are manifested in the first months of life. Children have severe hypotension (sluggish), can not hold their heads, sit on their own, often experience problems with feeding and breathing.
Type 2 SMA: Symptoms usually appear between 6 and 18 months of age. Children can learn to sit, but they can rarely stand or walk on their own. Muscle weakness progresses, contractures and scoliosis can develop.
Type 3 SMA: The onset of symptoms after 18 months, sometimes in adolescence. Patients can walk, but have difficulty lifting stairs, running, standing from a sitting position. Over time, a wheelchair may be required.
Type 4 SMA: Symptoms appear in adulthood (after 30 years), they are usually mild and slowly progressive.
Methods of Diagnosis of SMA
SMA diagnosis requires a comprehensive approach and often begins with a doctor’s suspicion based on a clinical picture.
Which doctor diagnoses SMA? This is usually done by a pediatrician or family doctor who notices developmental delay or other suspicious symptoms. However, the final diagnosis and subsequent management of the patient is carried out by other specialists.
Which doctors diagnose sas:
Pediatric neurologist (for children) / neurologist (for adults): it is a key specialist who conducts a clinical examination, evaluates muscle, tone, reflexes and motor skills. It is the neurologist most often the first to suspect SMA and directs further studies.
Genetic / geneticist: after clinical examination, the neurologist usually sends the patient to a geneticist. It is Gen. Ethics prescribes a genetic test (blood test on the mutation of the SMN1 gene), which is the gold standard of SMA diagnosis. The geneticist also advises the family about the heredity of the disease and risks for future children.
Neonatologist: In connection with the introduction of extended neonatal screening in Ukraine, neonatologists (newborn doctors) are now playing an increasing role in the early detection of SMAs. Due to this screening, the diagnosis can be made before the symptoms, which allows you to start treatment as soon as possible.
In addition to these major specialists, other doctors, such as:
Rehabilitologists/Physical Therapists: To evaluate motor functions and develop an individual rehabilitation program.
Pulmonologists: to evaluate respiratory function, especially in patients with severe SMA.
Gastroenterologists: with swallowing and nutrition problems.
Orthopedists: for control and correction of deformations of the musculoskeletal system (eg, scoliosis).
Thus, although the first suspicions can be expressed by a pediatrician or family doctor, the final diagnosis of SMA is established on the basis of a comprehensive examination, including clinical data and is confirmed by a genetic test prescribed by a geneticist or neurologist.
State aid and support for SMA patients in Ukraine
The situation with state support for patients with spinal muscle atrophy in Ukraine is dynamic and gradually improves, although it has its challenges. Until recently access to innovative and extremely expensive medicines It was extremely limited that Ukrainian families put in a difficult situation. However, thanks to the active work of NGOs, the patient community and the assistance of the Ministry of Health of Ukraine, there are significant changes today.
The most important aspect of state aid is to ensure access to pathogenetic treatment, which changes the course of the disease. In Ukraine, drugs such as Nusinersen (Spinraza), Anasemnogen Abeparvovek (Zolgensma) and Rsdiplam (Eurisi) are registered and purchased for patients.
Since 2021, Ukraine systematically purchases drugs for the treatment of SMAs at the expense of the state budget. Purchases are carried out through SE “Medical Procurement of Ukraine”, which provides transparency and efficiency of the process. Drugs are distributed to the regions according to the needs of patients.
After purchasing, the medicines are coming to the regional health departments, and then to medical facilities where patients with SMA are registered. The decision to prescribe a particular drug and its dosage is made by a multidisciplinary team of doctors, taking into account the type of SMA, the patient’s condition and international treatment protocols.
Prior to the emergence of centralized public procurement, and in some places, international and Ukrainian play a significant role in providing access to medicines Charitable funds . They raise funds for the purchase of expensive drugs, especially Zolgensma, the cost of one dose of millions of dollars.
Despite the positive changes, there are challenges such as supplies due to logistics difficulties (especially in martial law), the issue of covering the full volume of needs and ensuring timely starting treatment for Newly Diagnosed patients.
Social support and rehabilitation patients with SMA
In addition to medical treatment, the state provides a number of social guarantees and services for people with disabilities, in particular for patients with SMA
Disability design: SMA patients, regardless of age, have the right to establish the status of a person with a disability who entitles to relevant social benefits, benefits and access to rehabilitation services.
Social payments and pensions: For children with disabilities and adults with disabilities, monthly state social assistance or disability pensions are established. Parents who care for a child with disabilities can also receive appropriate assistance.
Rehabilitation Programs: State and communal rehabilitation centers provide physical, ergotherapy and speech therapy rehabilitation. It is important to regularly undergo rehabilitation courses to maintain muscle tone, prevent contractures and improve quality of life.
Provision of aids: Patients have the right to receive technical and other rehabilitation equipment, such as wheelchairs, orthoses, walkers, respiratory support (non -invasive lung ventilation) and others. This process is governed by relevant state programs.
Life with SMA: Tips and Recommendations
Life with a diagnosis of spinal muscular atrophy (SMA), whether a child or an adult, requires considerable effort, adaptation and a comprehensive approach. This is a call not only for the patient, but for the whole family. However, thanks to modern treatment and competent support, the quality of life of people with SMAs can significantly improve.
Early diagnosis and immediate start of treatment : This is probably the most important factor. The sooner the SMA is diagnosed and therapy (in particular, Spinraza, Zolgensma, Eurussi drugs) is started, the more motoneurons will be preserved and the better the functional results and quality of life will be. Do not delay genetic testing if there is suspicion.
A comprehensive approach to therapy : Treatment of SMA is not limited to medication. It includes a range of measures aimed at maintaining and improving the body’s functions:
Physical therapy and ergotherapy : Regular classes with experts help maintain joint flexibility, prevent contractures, strengthen the remaining muscles, and teach compensatory movements. Ergotherapists help adapt the environment and daily actions for maximum independence.
Respiratory support : Monitoring of respiratory function and timely use of non -invasive (such as BIPAP) or invasive ventilation of the lungs is critical, especially for patients with 1 and 2 types of SMA. It is important to cooperate with a pulmonologist and learn how to use equipment.
Nutrifying support : Swallowing problems (dysphagia) are common in SMA. It is important to provide adequate nutrition, possibly through the modification of food consistency or with gastrostomy to avoid exhaustion and aspiration pneumonia. The consultation of a nutritionist is recommended.
Orthopedic accompaniment : Regular examinations of orthopedic, use of orthoses, corsets, and sometimes surgery (such as scoliosis) help maintain proper posture and prevent deformation.
Psychological support : Diagnosis of SMA and life with him is a huge psychological load for both the patient and his family. Appeal to a psychologist or psychotherapist can help cope with emotional clicks, accept the situation and find internal resources for fighting.
Adaptation of living space and technical means : Creating a barrier -free environment at home, using specialized wheelchairs (manual or electrical), lifts, specialized beds and other aids significantly improves the patient’s mobility and independence.
Communication and support groups : Exchange of experience with other families encountered with SMAs can become an invaluable source of information, moral support and a sense of community. Ukrainian NGOs, such as “SMA children”, actively support such initiatives.
The importance of vaccinations : As SMA patients may be more vulnerable to respiratory infections, it is important to adhere to vaccination schedules, including influenza vaccination and pneumococcal infection, after consultation with a doctor.
Life with SMA is a marathon, not a sprint. With proper treatment, constant rehabilitation and strong support, SMA patients can lead an active and full life by realizing their potential. Thanks to the achievements of modern medicine, there are effective pathogenetic drugs today that can significantly change the course of the disease, preserve the function of motoneurons and significantly improve the quality and life expectancy of patients. Early diagnosis and timely start of treatment are absolutely critical to achieve the best results.
