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Leigh Syndrome, also known as juvenile subacute necrotizing encephalomyelopathy, is a rare inherited disorder that affects the central nervous system. A progressive disease, the condition causes the degeneration of the central nervous system including the brain, spinal cord and the optic nerve. Generally the symptoms show up between the age of 3 months and 2 years but some patients do not show any signs till they are much older. The first noticeable sign is loss of previously acquired motor skills, loss of head control, poor sucking ability can be the symptoms. There can be other signs too such as vomiting, loss of appetite, irritability and continuous crying. Delays in reaching developmental milestones may also be evident.
HOW IS LEIGH SYNDROME DIAGNOSED?
Neurologists may diagnose Leigh Syndrome based on symptoms and physical observation. There are a variety of specialized tests available for diagnosing Leigh Syndrome. MRI, CT-scan and blood tests are usually ordered for confirming diagnosis. Blood tests may reveal high levels of acidic waste products in blood
HOW IS LEIGH SYNDROME TREATED?
Treatment for Leigh disease includes thiamine or Vitamin B1. Oral sodium bicarbonate, which needs to be taken lifelong to control and curb the symptoms. Alongside, dietary changes are also suggest by asking patients to high fat and low carb diets.
DID YOU KNOW?
There are some current clinical trials that are government funded to determine a treatment for the condition.