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In simpler terms, MLD means...
- meta=change
- chromatic=color
- leuko=white
- dystrophy=degeneration
MLD is the degeneration in the white matter of the brain, Central Nervous System (CNS) and Periperal Nervous System. This is most commonly caused by a mutation in a gene called arylsulfatase A (ASA), also called sulfatide sulfatase. Without sufficient levels of this enzyme, the body is unable to break down the sulfatides that accumulate in the nervous system, kidneys, gallbladder, etc. The sulfatides reach toxic levels that damage the nerves and organs where buildup occurs.
Signs and Symptom of MLD
Late Infantile: (4 years old and younger) Gait disturbances, psychomotor regression, truncal ataxia, hypotonia, spasticity, tremors, decreased speech, irritability, seizures, difficulty swallowing, esotropia and general weakness
Early Juvenile: (4-6 years old) Gait disturbances, decline in school, behavioral changes, seizures, tremors, slurred speech, loss of previously achieved skills, abnormal postures
Late Juvenile and Adult: Change in personality and poor job/school performance. Initial psychiatric diagnoses (i.e. schizophrenia or depression) are common. Memory loss, seizures, numbness/pain in feet and hands. Eventual loss of cognitive and motor skills
* Above description borrowed from Eliza's Website
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Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called
the leukodystrophies. These diseases impair the growth or development of the
myelin sheath, the fatty covering that acts as an insulator around nerve fibers.
Myelin, which lends its color to the white matter of the brain, is a complex
substance made up of at least 10 different enzymes. The leukodystrophies are
caused by genetic defects in how myelin produces or metabolizes these enzymes.
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| | - National Institute Of Neurological Disorders
and Stroke |
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