Pelizaeus-Merzbacher disease

Definition

Pelizaeus-Merzbacher disease (PMD) is a neurological condition that affects myelin, the insulation surrounding the nerves in the brain and spinal cord.

Description

PMD was named for two German doctors, F. Pelizaeus and L. Merzbacher, who first described the condition in the late 1800s. The severity of characteristics in PMD can range from mild to severe. PMD primarily affects males, but occasionally females have mild or moderate symptoms. PMD is also called a leukodystrophy, meaning that it affects the myelin, sometimes called the white matter, in the brain and spinal cord. The brain and the spinal cord together are called the central nervous system.

Genetic profile

PMD is caused by a mutation or change...

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