What causes mitochondrial myopathies?
Mitochondrial myopathies may be caused by mutations in the body’s nuclear DNA (the DNA found in the nucleus of cells) or by mutations or deletions in the body’s mitochondrial DNA (mtDNA, the DNA found in cells’ mitochondria).
How does mitochondrial disease affect the digestive system?
The effects of mitochondrial disease on the digestive system include poor appetite, reflux (also known as heartburn, where the contents of the stomach go up the esophagus), difficulty swallowing, vomiting, gastroparesis (a condition where the spontaneous movements of the stomach muscles do not function properly).
What are the symptoms of mitochondrial encephalopathy?
Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40.
What are the symptoms of mitochondrial disease in adults?
Symptoms of mitochondrial diseases can include:
- Poor growth.
- Muscle weakness, muscle pain, low muscle tone, exercise intolerance.
- Vision and/or hearing problems.
- Learning disabilities, delays in development.
- Autism spectrum disorder.
- Heart, liver or kidney diseases.
What are primary mitochondrial myopathies?
Summary. Primary mitochondrial myopathies (PMM) are a group of disorders that are associated with changes in genetic material (e.g. depletions, deletions, or mutations) found within the DNA of mitochondria (mtDNA) or with genes outside the mitochondria (nuclear DNA), affecting predominantly the skeletal muscle.
What is mitochondrial depletion syndrome?
Mitochondrial Depletion Syndrome (MDS) refers to a group of rare genetic disorders that limit the number of mitochondria inside of cells. Mitochondria are energy generators that power the function of cells in the body. They create more than 90% of the energy in our cells.
How is mitochondrial encephalopathy treated?
There is no cure for MELAS. Treatment for the condition varies and focuses on managing the symptoms of the condition. Anticonvulsant medications are often used to prevent seizures that can occur with MELAS. For patients who have experienced hearing loss, cochlear implants may be used to restore some hearing ability.
What are mitochondrial myopathies and how do they affect you?
Mitochondrial myopathies often cause weakness with other facial and neck muscles. This can cause speech to become slurred and more importantly, swallowing can become difficult or even impossible which can lead to aspiration into the lungs (Muscular Dystrophy Association (MDA), 2018b).
Can mitochondrial disease cause muscle cramps?
Sometimes, mitochondrial disease is associated with muscle cramps. In rare instances it can lead to muscle breakdown and pain after exercise. This breakdown causes leakage of a protein called myoglobin from the muscles into the urine (myoglobinuria).
What are the signs and symptoms of mitochondrial disorders?
Furthermore, mitochondrial disorders can occasionally present only with these muscle symptoms and elevated or normal serum creatine kinase (CK), myalgia, or, less often, rhabdomyolysis (toxic muscle breakdown). It is important to remember that these symptoms vary greatly from one person to the next, even in the same family.
What causes mitochondrial disease?
Mitochondrial diseases are caused by genetic mutations. Genes provide the instructions for making proteins, and the genes involved in mitochondrial disease normally make proteins that work inside mitochondria.