A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and Alexander disease.

Group of diseases affecting the white matter of the brain, especially the cerebral hemispheres, due to defects in the formation and maintenance of myelin in infants and children.

Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.

(leukodystrophies) Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord. Leukodystrophies damage the white matter of your CNS. The white matter includes: Nerve fibers, also called axons, which connect your nerve cells; Myelin, a layer of proteins and fatty materials that covers and protects the nerve fibers. It also helps speed up signals between the nerve cells. When the white matter is damaged, it can slow down or block the signals between nerve cells. This can cause many different symptoms, including trouble with movement, vision, hearing, and thinking. There are over 50 types of leukodystrophies. Some types are present at birth, while others may not cause symptoms until a child becomes a toddler. A few types mainly affect adults. Most types get worse over time. Leukodystrophies are caused by genetic changes. These changes are usually inherited, meaning that they are passed from parent to child. The symptoms of leukodystrophies depend on the type; they can include a gradual loss of: Muscle tone; balance and mobility; Walking; Speech; Ability to eat; Vision; Hearing; Behavior. There can also be other symptoms, such as: Learning disabilities; bladder issues; Breathing problems; Developmental disabilities; Muscle control disorders; Seizures. Leukodystrophies can be hard to diagnose because there are so many different types which can have different symptoms. Your health care provider may use many tools to make a diagnosis: Physical and neurological exams; A medical history, including asking about family history; Imaging tests, such as an MRI or CT scan; Genetic testing to look for genetic changes that could cause leukodystrophies; Lab tests. There is no cure for leukodystrophies. Treatment focuses on relieving symptoms and providing support. It may include: Medicines to manage muscle tone, seizures, and spasticity (muscle stiffness); Physical, occupational, and speech therapies to improve mobility, function, and cognitive problems; Nutritional therapy for eating and swallowing problems; Educational and recreational programs. Stem cell or bone marrow transplantation can be helpful for a few types of leukodystrophy. One type of leukodystrophy, CTX, is treatable if it is diagnosed early. It is treated with chenodeoxycholic acid (CDCA) replacement therapy. NIH: National Institute of Neurological Disorders and Stroke

A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to protect the nerves...