Selkäydinnukke

Selkäydinnukke, also known as spinal muscular atrophy (SMA), is a rare genetic disorder that affects motor neurons in the spinal cord. These neurons are responsible for transmitting signals from the brain to the muscles, allowing for voluntary movement. In individuals with SMA, these motor neurons degenerate, leading to progressive muscle weakness and atrophy.

The severity of SMA varies widely, with different types categorized based on the age of onset and the level of motor function achieved. Type 0 is the most severe, with symptoms appearing before birth, while Type 1 is diagnosed in infancy and results in significant weakness and difficulty breathing. Types 2, 3, and 4 represent milder forms with later onset and varying degrees of motor impairment.

SMA is caused by mutations in the SMN1 gene, which provides instructions for making a protein essential for motor neuron survival. The inheritance pattern is autosomal recessive, meaning that both parents must carry a copy of the altered gene for a child to be affected.

Diagnosis of SMA typically involves a combination of clinical examination, genetic testing, and sometimes electromyography (EMG) to assess muscle electrical activity. While there is no cure for SMA, several treatments are available to manage symptoms and slow disease progression. These include supportive care, physical therapy, occupational therapy, and emerging gene therapies and medications that target the underlying genetic defect. Early diagnosis and intervention are crucial for optimizing outcomes and improving the quality of life for individuals with SMA.