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
Juvenile: (4+ years old) Gait disturbances, decline in school, behavioral changes, seizures, tremors, slurred speech, loss of previously achieved skills, abnormal postures
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