Spinal Muscular Atrophy (SMA) is a rare neuromuscular disease. In this article, we will examine detailed information about SMA disease. We will cover many important issues from diagnosis to treatment and improving quality of life.
What is Spinal Muscular Atrophy (SMA)?
SMA is a genetic disorder that causes the loss over time of motor neurons in the spinal cord, which is part of the central nervous system. These neurons are necessary to move the body’s muscles. SMA usually begins in childhood but can last a lifetime.
SMA Types
There are various types of SMA. These determine the severity and symptoms of the disease. The main types of SMA are:
- SMA Type 1 (Werdnig-Hoffmann Disease): This most serious type appears in infancy and causes severe muscle weakness in babies at an early age.
- SMA Type 2: This type occurs in childhood and is characterized by milder symptoms.
- SMA Type 3 (Kugelberg-Welander Disease): This type begins in adolescence or early adulthood and progresses more slowly.
- SMA Type 4: This type begins in adulthood and symptoms may be milder.
SMA Symptoms
Symptoms of SMA may vary depending on the type of disease. In general, these symptoms may include:
- Muscle weakness and muscle loss
- Difficulty breathing
- Difficulty swallowing
- Restriction of movement
- Scoliosis (spine curvature)
Diagnosis and Treatment
SMA diagnosis is usually made through genetic testing. Treatment options include physiotherapy, medications, and device-assisted breathing devices. There is also nusinersen (Spinraza), a new drug used to treat SMA as of 2016, and gene therapies approved later.
Life and Support
Physiotherapy, nutritional support and psychosocial support are important for people with SMA. It is also critical to create a support network that suits the needs of patients and families at every stage of life.
With advanced treatment options and support, SMA can extend patients’ lives and provide a better quality of life.
Spinal Muscular Atrophy (SMA) Disease
SMA is a neuromuscular disease, and its symptoms and severity may vary depending on the type of disease. Diagnosis and treatment can influence the course of the disease, and support can improve patients’ quality of life. Obtaining information is important for people with SMA and their families. It is also important to collaborate with the right healthcare professionals and participate in support groups.