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Spinal Muscular Atrophy (SMA) is a severe neurodegenerative disease that is usually found in infants. When dealing with an acute form of SMA, there is a high risk that the disease will be fatal for the child. That is why early diagnosis and early implementation of possible treatment and rehabilitation are important. The test for SMA that can diagnose the disease in an infant is a genetic test.
Spinal Muscular Atrophy in Children – Where Does SMA Come From?
Spinal Muscular Atrophy (SMA) is classified as the most common neuromuscular disease in infants. Usually, a sick child exhibits symmetrical weakness in muscle strength and reflexes (e.g. the knee reflex), hand tremors, problems with moving, standing up and walking. The symptoms of SMA are progressive and the disease is incurable – gradually leads to muscle atrophy, immobilization, and in its more severe forms to respiratory failure.
The course of SMA depends on the specific form of the disease. It can be severe, moderate or mild, but the classification also mentions the type of SMA that appears in adults (usually after the age of 30).
SMA is a genetically determined disease. The gene mutation causes changes in the spinal cord and the loss of motor neurons. These neurons are responsible for transmitting the necessary nerve impulses to the muscles. Their disappearance, as a consequence, prevents the proper functioning of the muscles, and over time their weakening and atrophy. There is no way to prevent SMA or a universal treatment for the condition. Physiotherapy and monitoring of the work of various systems, including the respiratory and digestive systems, is necessary counteract complications of SMA or detect them quickly.
How is SMA diagnosed?
In a developing infant, parents can quickly notice disturbing symptoms that may indicate neurodegenerative diseases, including SMA. The earlier symptoms such as muscle weakness or poor response (e.g. slight crying or coughing) appear, the more likely the child is one of the more serious forms of SMA. Developmental abnormalities, including the lack of independent sitting, standing up or walking, should prompt you to see a doctor.
The diagnosis of spinal muscular atrophy begins with a conversation with a doctor who assesses the symptoms, checks the reflexes and the general condition of the little patient. When SMA is suspected, genetic testing is required to confirm or rule out the condition. It represents the basis for routine SMA diagnostics and usually allows a diagnosis to be made. In some cases, an EMG or muscle biopsy is additionally needed.
However, the genetic test remains the gold standard in the diagnosis of spinal muscular atrophy. We can do this type of SMA screening privately by choosing a service on the Medonet Market platform. In this way, we will remotely test the blood of a child or newborn, i.e. sending a self-collected sample to the laboratory.
What is genetic testing for SMA?
The diagnosis of SMA should be carried out as early as possible, as the disease may be fatal for the child. The genetic test for spinal muscular atrophy is performed with a blood sample. It is analyzed in the laboratory, where it is checked whether they have occurred mutations in the SMN1 gene. The SMN2 gene may also be assessed.
It should be remembered that in order to perform molecular genetic tests, consent must be given in the appropriate form. The results of genetic tests for SMA are most often made available in 1 to 2 weeks and are collected online.
It is important to with the result of the genetic test for SMA see your doctor. He will interpret the obtained results, taking into account the symptoms occurring in the child and previous tests. He may also order additional tests, such as an EMG test, a fatigue test, a conduction velocity test, or a CK test.
Read also:
- The five most dangerous diseases in children. It is because of them that they most often die
- Rare diseases – a review of selected disease entities
- Wolf-Hirschhorn syndrome – causes, symptoms, diagnosis, treatment
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