Pelizaeus-Merzbacher Disease

Pelizaeus-Merzbacher Disease (PMD) is a genetic disorder that involves the brain and central nervous system. It is a part of a group of disorders called leukodystrophies, and is caused by an inability to form myelin in the brain. There are two types of PMD, classic, which is more common, and connatal, which is more severe. Symptoms vary depending on type and begin at infancy. General signs and symptoms include intellectual disabilities specifically with language and memory, and delayed motor skills that impair coordination and walking. There is no specific treatment for PMD, but symptoms can be targeted and genetic counseling is recommended.