Sma – causes, symptoms, treatment of spinal muscular atrophy

Spinal muscular atrophy (SMA) is a rare, genetically determined disease that affects the nervous system and muscles. In this article, we will discuss what SMA is, its different types, causes, inheritance, incidence, symptoms, diagnosis, and available treatment and rehabilitation methods for children affected by this disease.

Sma – what is it?

Spinal muscular atrophy (SMA) is a group of rare genetic diseases that lead to a gradual loss of the ability to control muscles. This disease affects the nervous system, causing the degeneration of nerve cells in the spinal cord. This leads to muscle weakness and, consequently, difficulties in moving, breathing and swallowing.

Sma – types

There are several different types of SMA, which vary in the age at which symptoms begin and their severity. The most common types of SMA are:

• SMA type 1: The most severe type, manifests itself in infants in the first months of life.
• SMA type 2: Symptoms appear in childhood, and patients with this type of SMA are usually able to sit but cannot walk.
• SMA type 3: Symptoms develop later, often in adulthood or adolescence. Patients with this type may be able to walk but may require support.
• SMA type 4: The rarest type of SMA that occurs in adults.

Sma – causes of spinal muscular atrophy

SMA is caused by mutations in the SMN1 gene, which is necessary for the production of the SMN (survival motor neuron) protein. The lack or deficiency of this protein leads to the degeneration of nerve cells in the spinal cord, which is the main cause of SMA symptoms.

Sma – inheritance of spinal muscular atrophy. how common is sma?

SMA is an inherited disease and the risk of its occurrence depends on the genes inherited from the parents. SMA is a relatively rare disease, but its incidence varies by geographic region and population. It is estimated that it affects approximately 1 in 10,000 to 1 in 15,000 newborns worldwide.

Sma – symptoms

Symptoms of SMA may vary depending on the type of disease, but the most common symptoms are:

• Muscle weakness, especially in the limbs.
• Difficulty breathing and swallowing.
• Difficulty maintaining body position.
• Limited mobility.
• Joint deformities.

Sma – diagnostics

The diagnosis of SMA usually relies on genetic testing that identifies mutations in the SMN1 gene. Additional tests, such as electromyography (EMG) and imaging tests, may be used to assess the severity of the disease and plan treatment.

Sma – treatment

There is currently no cure for SMA, but there are supportive therapies that can help manage symptoms and improve patients’ quality of life. The latest treatments for SMA, such as disease-modifying drugs, may be available but require consultation with a specialist.

Sma – rehabilitation of children with spinal muscular atrophy

Rehabilitation plays a key role in the treatment of children with SMA. Physiotherapy, occupational therapy and other forms of rehabilitation can help maintain or improve muscle function and maintain patients’ independence. Cooperation with a team of specialists is crucial in adapting the rehabilitation program to the individual needs of the patient.

Your suggestions

If you have any suggestions or questions about SMA, we encourage you to consult your doctor or genetics specialist. It is also worth seeking support from SMA patient organizations and families who can offer information and emotional support.

Recommended articles

If you are interested in SMA, it is also worth reading articles about new therapies and scientific research on this disease. In addition, there are patient organizations and foundations dedicated to supporting families affected by SMA that can provide valuable information and support.

It is worth being aware of the existence of SMA, its causes, symptoms, diagnostics, treatment and rehabilitation options, in order to better understand this rare disease and support people affected by SMA and their families.