Adrenoleukodystrophy facts for kids

Adrenoleukodystrophy (say: ad-ren-oh-loo-koh-DIS-troh-fee), often called ALD, is a serious disease that affects the brain and spinal cord. It's a genetic condition, meaning it's passed down through families, and it's linked to the X chromosome.

ALD happens when the body can't properly break down certain types of fats called very long-chain fatty acids (VLCFAs). Normally, special enzymes in our bodies act like tiny scissors, cutting up these fats. But in people with ALD, these enzymes don't work correctly.

When these fats aren't broken down, they start to build up, especially in the brain and spinal cord. This buildup damages the myelin, which is a protective covering around nerves. Think of myelin like the insulation around an electrical wire; it helps nerve signals travel quickly and smoothly. When myelin is damaged, nerve signals slow down or stop, causing many problems.

What Happens in ALD?

When myelin is damaged, it can lead to various symptoms because the brain can't send messages to the rest of the body properly.

How ALD Affects the Body

• Brain Damage: The buildup of fats in the brain causes inflammation and damages the myelin. This can affect how a person thinks, moves, and feels.
• Nerve Problems: Without healthy myelin, nerves can't send signals effectively. This can lead to problems with movement, sensation, and other body functions.
• Adrenal Glands: ALD can also affect the adrenal glands, which are small glands above the kidneys. These glands make important hormones that help control energy, blood pressure, and how the body responds to stress. When they don't work well, it's called adrenal insufficiency.

Common Symptoms of ALD

The symptoms of ALD can vary from person to person and often get worse over time.

• Learning and Behavior Changes: Kids with ALD might start having trouble paying attention, become hyperactive, or struggle in school.
• Movement Difficulties: They might have problems with balance, walking, or coordinating their movements.
• Seizures: Some people with ALD can experience seizures, which are sudden bursts of uncontrolled electrical activity in the brain.
• Communication Problems: It can become hard to speak clearly, listen to others, or understand verbal instructions.
• Vision and Hearing Loss: In some cases, ALD can lead to problems with eyesight or hearing.

Diagnosing and Treating ALD

Diagnosing ALD usually involves blood tests to check for high levels of the specific fats (VLCFAs) and brain scans like MRI to look for myelin damage.

How ALD is Managed

While there isn't a simple cure for ALD, treatments can help manage the symptoms and slow down the disease's progression for some people.

• Bone Marrow Transplant: For some forms of ALD, especially in younger boys, a bone marrow transplant (also called a stem cell transplant) can be very helpful if done early. This replaces the faulty cells with healthy ones that can produce the missing enzyme.
• Medications: Doctors might prescribe medicines to help with symptoms like seizures or hyperactivity.
• Physical Therapy: This can help maintain muscle strength and movement.
• Special Diets: Sometimes, a special diet that limits certain fats is recommended, though its effectiveness can vary.

Research is ongoing to find new and better ways to treat ALD and help those affected live healthier lives.

See also

In Spanish: Adrenoleucodistrofia para niños