Metachromatic Leukodystrophy is the inability of the body to break down fats known as sulfatides due to a lack of the enzyme arylsulfatase A or ARSA. The accumulation of sulfatides in the body can damage organs such as the kidney, brain and spinal cord. Muscle weakness is the most common sign or this disorder caused by nerve damage. Patients could also have difficulty speaking and swallowing and seizures.
HOW IS METACHROMATIC LEUKODYSTROPHY DIAGNOSED?
Diagnosis is done by a neurology expert who would do CT scans and blood tests along with observing these symptoms.
HOW IS METACHROMATIC LEUKODYSTROPHY TREATED?
There is no cure for this disorder but medications could be prescribed to help patients to control the movements of muscles. Speech therapy would help with communication skills. Bone marrow or cord blood transplants could help in reducing the progression of this disorder.
DID YOU KNOW?
Metachromatic Leukodystrophy is a rare disorder that is reported to occur in one in 40,000 to 160,000 people.