Mitochondrial myopathy is a group of conditions caused by mitochondrial disorders that affect the muscles due to the lack of energy. Symptoms include muscle weakness, strokes, seizures, and heart problems. There is no cure, but supportive care can help manage symptoms. Gene therapy may be a future treatment. Mitochondrial myopathy is an umbrella term used […]
Nemaline myopathy is a rare genetic disorder causing muscle weakness, difficulty breathing, eating, and talking. Treatment options are available, but the condition cannot be cured. Different forms exist, and patients can present differently. The condition involves small rod-like structures in skeletal muscles, and some patients may require ventilator support and respiratory therapy. Difficulty swallowing and […]
Centronuclear myopathy is a rare congenital muscle disorder where muscle cell nuclei are located in the center of the cell. It is often genetic and more common in newborn boys. Symptoms include low muscle tone, lack of muscle strength, and inadequate oxygen supply. It is usually caused by mutations in the MTM1 gene. There is […]
Metabolic myopathy is a genetic disorder that affects the body’s ability to produce energy for muscles, causing pain and weakness after exercise. It can be caused by spontaneous mutations or inherited genes and is managed through diet and exercise changes. Genetic counseling and support groups are available for those affected. A metabolic myopathy is a […]
Intensive care myopathy is a syndrome that causes weakness and muscle immobility in patients with prolonged stays in the ICU. Diagnosis is made through medical history and EMG tests, and treatment is supportive. Risk factors include prolonged mechanical ventilation and certain drugs. Intensive care myopathy — also known as critical illness myopathy or intensive care […]
