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Doctors for Metachromatic Leukodystrophy in Doiwala, Dehradun
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Metachromatic Leukodystrophy is a common form of leukodystrophy but a rare condition. It is an inherited neurometabolic disorder that affects the white matter of the brain. The condition is characterized by the accumulation of a fatty substance known as sulfatide over the surface of the brain as well as other body organs such as liver, spleen, gall bladder or kidneys. This build-up of sulfatide will cause loss of the protective covering, myelin. People with this condition experience symptoms such as convulsions, seizures, personality changes, spasticity, progressive dementia, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness.
HOW IS METACHROMATIC LEUKODYSTROPHY DIAGNOSED?
Tests that may be done include:
• Blood or skin culture to look for low arylsulfatase A activity
• Blood test to look for low arylsulfatase A enzyme levels
• CT scan
• DNA testing for the ARSA gene
• Nerve biopsy
• Nerve signaling studies
• Urine chemistry
HOW IS METACHROMATIC LEUKODYSTROPHY TREATED?
There is no cure and the treatment prescribed is symptomatic and supportive.
DID YOU KNOW?
MLD is a progressive disease. This means that the symptoms tend get worse over time. People who have this disease lose all muscle and mental function eventually. If the symptoms don't appear until adulthood, people typically live 20 to 30 years after the diagnosis.