Käsimärt

Käsimärt is a rare, inherited neurological disorder that affects the peripheral nervous system. It is characterized by progressive muscle weakness, sensory loss, and autonomic dysfunction. The onset of symptoms typically occurs in early adulthood, though it can manifest earlier or later in life. The exact prevalence of käsimärt is unknown due to its rarity.

The primary symptoms of käsimärt include distal limb weakness, particularly affecting the hands and feet, which can lead to difficulties with fine motor skills and ambulation. Sensory disturbances, such as numbness, tingling, and pain, are also common. Autonomic symptoms may include problems with temperature regulation, blood pressure control, and gastrointestinal function. The progression of the disease varies among individuals, with some experiencing slow deterioration over decades, while others may have a more rapid decline.

Käsimärt is caused by mutations in specific genes that are essential for the development and maintenance of peripheral nerve cells. These genetic defects lead to the degeneration of nerve fibers, impairing their ability to transmit signals between the brain and the rest of the body. Diagnosis usually involves a combination of clinical examination, nerve conduction studies, electromyography, and genetic testing.

Currently, there is no cure for käsimärt. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to maintain strength and mobility, pain management strategies, and interventions for autonomic dysfunction. Research into potential therapeutic approaches is ongoing, aiming to slow disease progression or repair nerve damage.