We provide professional support in Spinal Muscular Atrophy (SMA) Rehabilitation.
It is a congenital disease of the motor nerves located in the anterior horn section of the spinal cord. The incidence of Spinal Muscular Atrophy (SMA) with genetic inheritance is 1-2 / 10,000.
What is Spinal Muscular Atrophy (SMA)?
In Spinal Muscular Atrophy (SMA), there is no response to the neural stimulation coming from the brain to the anterior horn cells of the spinal cord and enabling the voluntary muscles to work. Because, there is a genetic dysfunction in the motor anterior horn cells. Therefore, since these nerves are not stimulated to the peripheral (peripheral) muscles, the muscles cannot contract voluntarily and myolysis (atrophy) occurs. All arm and leg muscles, trunk and some respiratory muscles are affected by this disease.
What Causes Spinal Muscular Atrophy (SMA)?
There is a mutation in the motor nerve gene (SMA gene) in SMA disease, popularly known as “loose baby syndrome”. In normal healthy people, the motor neuron gene produces a protein critical to the function of the nerves that control our muscles. Thanks to this protein, nerves become strong and carry out orders from the brain. However, if this protein cannot be synthesized, motor neurons are broken down and destroyed. As a result, no signals can be sent to the muscles.
The main feature of all types of SMA is muscle weakness accompanied by muscle wasting.
How DoesSMA Appear?
SMA is examined in 4 different types, considering the age at which it starts and clinical symptoms. The earlier the symptoms of SMA appear, the more severe the course of the disease. SMA type 1 seen under 6 months shows the most severe form of the disease.
What are the Symptoms ofSMA?
Although the symptoms vary according to the age at which the disease occurs, they may differ from person to person. Although the general symptoms vary according to the type of the disease;
The diagnosis of the disease can be made by genetic analysis and EMG. In genetic analysis, it is diagnosed by detecting the anomaly in the SMN (survivor motor neuron) gene located in the long arm of chromosome 5.
What Are the Treatment Methods of SMA?
Extensive research is ongoing for the treatment of SMA disease. SPINRAZA, the first drug to be approved by the FDA in 2016, is still used in the treatment of children, and losses in patients can be reduced or even stopped with this drug.
In addition to drug treatment, rehabilitation programs to be applied in SMA have very beneficial and positive effects. Purpose in rehabilitation;
SMA disease not only affects the musculoskeletal system in relation to the pathology it creates, but also brings many secondary problems. Treatment principles should be holistic and multidisciplinary, and each patient should be treated individually.
Considering the effects of SMA, orthosis may be required to prevent some problems that may arise in children due to muscle weakness. In addition, it is recommended to use walking devices such as walkers and wheelchairs in accordance with the functional state of the child in order to support independence.
Education of the family about the disease, and the importance of stretching and strengthening exercises to protect joints and muscles should not be forgotten.
The first step in the rehabilitation of SMA disease is to evaluate the patient’s current functional status. It should be repeated every 3-6 months. Because the functional state of the growing child will constantly change. Widespread weakness in muscles despite growth will have adverse effects on both bone and tendons. As a result, growth disorders will occur in the bone. A poorly developed hip joint is an example. Bilateral hip dislocation is a common finding in SMA cases.
The joints of SMA cases are also quite loose. In the early stage of the disease, the range of joint motion may even go beyond what is expected. This condition is a factor that increases spinal scoliosis. Loss of muscle strength, laxity in joints and limitation of movement, and changes in arms and legs due to growth are the main factors affecting functions in patients with SMA.
How is Respiratory Physiotherapy Applied in SMA?
Weakness of respiratory muscles reduces ventilation of the lungs in patients with SMA. This situation leads to frequent lung infections and diseases. As a result of the weakness of the cough-related muscles, secretions become difficult to expel. Children with widespread muscle weakness will also have an increased risk of aspiration.
Small oral foods, the use of straws, keeping the head upright during feeding and chin support, less and frequent feeding are practices that will help prevent the risk of aspiration.
From an early stage, it is important to develop muscle strength, maintain the flexibility of the rib cage, increase the range of motion and improve physical functions. Appropriate positions should be shown by physiotherapists for comfortable breathing.
Positioning and various drainage methods will be useful in the disposal of lung secretions. Appropriate postural drainage measures should definitely be taken to prevent aspiration in patients and the family should be educated on this issue.
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