Description

Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called leukodystrophies. This disease disrupt the growth or development of myelin sheath, including the fat that acts as an insulator around nerve fibers. Myelin, which lend color to the white matter of the brain, is a complex substance consisting of at least 10 different enzymes. The leukodystrophies caused by genetic defects how myelin produces or metabolizes these enzymes. Each leukodystrophies is the result of defects in the gene that controls one (and only one) of the enzyme. MLD is caused by a lack of the enzyme arylsulfatase A. MLD is one of several lipid storage diseases, which result in toxic fatty materials (lipids) in cells in the nervous system, liver, and kidney.

There are three forms of MLD: in childhood, adolescence, and adulthood. In childhood, which is the most common MLD, affected children who have difficulty walking after the first year of life.Symptoms include muscle weakness, muscle stiffness, slow growth, loss of vision leading to blindness, convulsions, impaired swallowing, paralysis, and dementia. Children can be a comma. Most children with this type of MLD died at the age of five years. The children with MLD form of teenagers (between the ages of 30-10 years old) usually begins with a learning disorder, a mental decline, and dementia and then develop symptoms similar to the infantile form but with slower progression. Adult form commonly begins after age 16 as a mental disorder or progressive dementia.

Symptom

# Symptoms in childhood:

Onset of symptoms 6 months to 2 years

-Mental decline

-Hypotonia (low muscle)

-Speech disorders

-Loss of mental abilities

-Blindness

-Stiffness

-Seizures

-Impaired swallowing

-Paralysis

-Dementia

# Symptoms in adolescence:

-Mental Decline

Learning-disorders

-Ataxia

-Seizures

-Dementia

# Symptoms in adulthood:

-Mental decline

-Impaired concentration

-Depression

-Psychological Disorders

-Ataxia

-Tremor

-Dementia

Treatment

There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some cases. Another treatment is to relieve symptoms and support the patient’s survival.