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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

Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include:

• Tests on a few drops of blood from pricking the baby's heel. The tests look for inherited disorders. All states test for at least 30 of these conditions.
• A hearing test that measures the baby's response to sound
• A skin test that measures the level of oxygen in the blood. This can tell if the baby has a congenital heart defect.

These tests look for serious medical conditions. If not treated, some of these conditions can cause lifelong health problems. Others can cause early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent.

If a screening shows that your baby might have a condition, the health care provider or the state health department will call you. It is important to follow up quickly. Further testing can verify whether your baby has the condition. If so, treatment should start right away.

NIH: National Institute of Child Health and Human Development