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It is a genetically determined group of neuromuscular diseases, the common feature of which is the loss of spinal cord motor neurons (which transmit impulses from the brain to the muscles), which in turn leads to muscle weakness and atrophy.
The disease, occurring at a frequency of 1: 6, can begin in both prenatal and adulthood. Some symptoms occur regardless of the age and severity of the disease. These include: trembling fingers, symmetrical, progressive weakening of muscle strength as well as weakness or lack of deep reflexes, e.g. a knee reflex that fades first.
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There are three basic clinical forms:
- SMA1 (acute form, Werdnig-Hoffmann disease) – the first symptoms of the disease most often appear in the second or third month of life. Attention is drawn to the lack of progress in the child’s motor development, quiet crying and easy fatigue when sucking and swallowing, which is the result of significant weakening of the intercostal muscles. The child never achieves the ability to sit up on its own. The prognosis for acute disease is poor. Most children die before the age of 2.
- SMA2 (intermediate form) – The baby develops normally at first but never becomes able to walk independently. There is trembling of the fingers and with time significant weakness. There are joint contractures and curvatures of the spine. Survival in SMA2 patients depends on the level of care, but is usually shorter than in the general population.
- SMA3 (mild form, Kugelberg-Welander disease) – the first symptoms usually appear before the age of 3. The child has trouble walking and climbing stairs. He falls over, stands up, leaning on objects, does not run. The course of the disease may also be slower and unnoticeable for a long time. As the disease progresses, there may be pseudo-hypertrophy of the calves, trembling of the fingers, and muscle twitching. Survival time is similar to that of the general population.
- SMA 4 (adults) – the disease begins around 20-30 years of age. discrete, slowly progressing symptoms: trembling fingers, difficulty running, climbing stairs. Over time, weakness spreads to the distal (distal) muscles. The survival time is unchanged.
In all forms of the disease, only symptomatic treatment is used, which mainly includes physical therapy, orthopedic treatment and assisted breathing. The aim is to extend the period of independent functioning of patients, prevent complications and improve their quality of life.