Metachromatic leukodystrophy

MLD; Arylsulfatase A deficiency; Leukodystrophy - metachromatic; ARSA deficiency

Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, muscles, other organs, and behavior. It slowly gets worse over time.

Central nervous system and peripheral nervous system

The central nervous system comprises the brain and spinal cord. The peripheral nervous system includes all peripheral nerves.

Autosomal recessive

Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. For a child born to a couple who both carry the gene (but do not have signs of disease), the expected outcome for each pregnancy is: a 50% chance that the child is born with one normal and one abnormal gene (carrier, without disease), a 25% chance that the child is born with two normal genes (normal), and a 25% chance that the child is born with two abnormal genes (at risk for the disease). Note: These outcomes do not mean that the children will definitely be carriers or be severely affected.



Exams and Tests


Support Groups

Outlook (Prognosis)