Spinal Muscular Atrophy: Causes, Symptoms, and Treatment

Spinal Muscular Atrophy (SMA) is a rare genetic disorder that affects muscle strength and movement. It occurs due to a mutation in the SMN1 gene, which leads to the progressive loss of motor neurons—nerve cells that control voluntary muscles. As a result, individuals with SMA experience muscle weakness and atrophy over time.

Types and Symptoms

SMA is classified into different types based on the age of onset and severity:

1. Type 1 (Infantile-onset SMA): Appears in infancy and is the most severe form, affecting the ability to move, swallow, and breathe.
2. Type 2 (Intermediate SMA): Symptoms begin in early childhood, leading to difficulty walking but allowing independent sitting.
3. Type 3 (Juvenile SMA): Milder form where children can walk but may develop mobility challenges later in life.
4. Type 4 (Adult-onset SMA): The mildest form, causing gradual muscle weakness in adulthood.

Causes and Diagnosis

SMA is an inherited disorder passed down in an autosomal recessive pattern, meaning both parents must carry the faulty gene. Diagnosis involves genetic testing, muscle function assessments, and sometimes electromyography (EMG) to evaluate nerve activity.

Treatment and Management

While there is no cure, medical advancements have led to FDA-approved treatments such as Spinraza (nusinersen), Zolgensma (gene therapy), and Evrysdi (risdiplam) that help slow disease progression. Physical therapy, respiratory support, and assistive devices also play a crucial role in improving the quality of life for individuals with SMA.

Hope for the Future

With ongoing research and new treatments emerging, people with SMA are experiencing improved outcomes and longer life expectancy. Early diagnosis and proper management are key to enhancing mobility and overall well-being.

If you or a loved one is affected by SMA, consulting a specialist can provide guidance on the best treatment options available.