What is Spinal Muscular Atrophy (SMA)? Symptoms and Diagnosis

Spinal Muscular Atrophy is a genetic disease that affects motor neurons in the central nervous system. This condition causes weakness and atrophy of the muscles, limiting the patient’s mobility. SMA usually begins in childhood and progresses over time.

Causes of SMA

SMA usually occurs as a result of a mutation in the SMN1 gene. This gene ensures the healthy functioning of motor neurons in the body. Mutation in the SMN1 gene causes motor neurons to fail to function properly and atrophy over time.

Symptoms

Symptoms of SMA may vary depending on the patient’s age, type and severity of the disease. However, the following symptoms are usually observed:

1. Muscle Weakness: Decreased ability to move and muscle weakness.
2. Muscle Atrophy: Muscles shrink and weaken over time.
3. Loss of Reflexes: Decrease in knee and ankle reflexes.
4. Breathing Problems: As SMA progresses, breathing problems may occur.
5. Swallowing Difficulties: Difficulty in swallowing may occur.

Diagnosis and Prognosis

To accurately diagnose SMA, these steps are usually followed:

• Physical Examination: The physician evaluates the patient’s symptoms and muscle weakness.
• Genetic Tests: Mutations in the SMN1 gene of SMA are detected by genetic tests.
• Electromyography (EMG): A test that measures muscle activity can be used to evaluate the condition of motor neurons.
• Nerve Conduction Velocity Test: Evaluates nervous system function by measuring the conduction velocity between nerves.

Treatment and Care

Unfortunately, there is currently no completely curative treatment for SMA. However, various treatments and care methods can be applied to relieve symptoms and improve quality of life. Physiotherapy, respiratory therapy and supportive devices can be used.

Spinal Muscular Atrophy is a disease that requires a multidisciplinary approach. Disease management can be achieved most effectively through genetic counseling, rehabilitation, and collaboration with pediatric specialists.

Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy often has a genetic basis and requires lifelong management. Early diagnosis and appropriate treatment methods can improve the patient’s quality of life and help control symptoms. Therefore, it is important to contact a healthcare professional when symptoms are noticed.