Conditions / Genetic
metachromatic leukodystrophy
info · Genetic · ICD-10: E75.25
A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
Signs and symptoms
- Polyneuropathy
- Hypotonia
- Muscle weakness
- Motor deterioration
- Developmental regression
- Global developmental delay
- Peripheral demyelination
- Peripheral neuropathy
- Increased CSF protein concentration
- Loss of ambulation
Medications that may treat it
Also known as: MLD; Scholz cerebral sclerosis; arylsulfatase A deficiency; deficiency of cerebroside-sulfatase; sulfatide lipoidosis