Sorry, your search did not match any doctors. Here are some other doctors that we have hand
picked for you!
Show Doctors near me
That's all we have from Aamrai, Sangli. Here are some top doctors from nearby cities
MITOCHONDRIAL DNA DEPLETION SYNDROME
Mitochondrial DNA Depletion Syndrome refers to a group of autosomal recessive disorders that causes the affected tissues to have a sharp decrease in mitochondrial DNA. There are three types of Mitochondrial DNA Depletion Syndrome: myopathic, hepatopathy and encephalomyopathy. Common symptoms of Mitochondrial DNA Depletion Syndrome are:
• Progressive muscle weakness
• Loss of motor skills
• Difficulty in standing, walking or eating
• Loss of eye movement
• Breathing difficulty
HOW IS MITOCHONDRIAL DNA DEPLETION SYNDROME DIAGNOSED?
This is an inherited disorder and can be diagnosed through genetic testing. The high levels of creatine kinase in serum is also a good indicator for diagnosing this disorder.
HOW IS MITOCHONDRIAL DNA DEPLETION SYNDROME TREATED?
There is no cure for the condition. Some medications may help in reducing the symptoms. Dietary changes may help in dealing with the symptoms. Some treatments suggest a liver transplant however, there is still more research needed in this regard. Stem cell transplant though shows better results.
DID YOU KNOW?
The condition is usually fatal in infants. However, some children survive till their teenage years with myopathy. Very few survive till adulthood. Respiratory failure is the most common form of death in the affected individuals.