adrenoleukodystrophy

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 adrenal glands are two small organs that sit on top of each kidney. The adrenal glands make different types of hormones you need to stay alive and healthy. Hormones are chemicals that travel in your bloodstream and control how different parts of your body work.

The adrenal glands make the hormones cortisol, aldosterone, adrenaline, and noradrenaline. They also make hormones that your body uses to make sex hormones (estrogen and testosterone). All of these hormones do many important jobs, including:

• Turning food into energy and managing blood sugar levels
• Balancing salt and water
• Keeping blood pressure normal
• Responding to illness and stress (your "fight or flight" response)
• Timing when and how fast a child develops sexually
• Supporting pregnancy

When you have an adrenal gland disorder, your body makes too much or too little of one or more hormones. The symptoms depend on the type of problem you have and how much it affects the hormone levels in your body.

There are many types of adrenal gland disorders, including:

• Addison's Disease - a condition in which the adrenal glands don't make enough cortisol
• Cushing's Syndrome - a condition caused by too much cortisol in the body, often from taking steroid medicines for a long time
• Aldosterone-producing adenoma - a benign tumor (not cancer) that makes too much aldosterone and may cause serious high blood pressure
• Hereditary paraganglioma-pheochromocytoma - an inherited condition causing different types of tumors that make adrenaline and other hormones. Some tumors may become cancerous.
• Adrenal gland cancer - cancerous tumors, including adrenocortical carcinoma and neuroblastoma
• Congenital Adrenal Hyperplasia (CAH) - a group of inherited disorders in which the adrenal glands don't make enough cortisol. The most common type is 21-hydroxylase deficiency (also called CAH1). In the United States, newborn babies get a blood test to see if they have CAH. People born with CAH may not have symptoms until childhood or later in life.

The cause of adrenal gland disorders depends on the type of disorder you have. Causes can include:

• Medicines such as steroids
• A problem in another gland, such as the pituitary gland. The pituitary gland releases hormones that affect how the adrenal glands work.
• Changes in genes (mutations). These changes can cause the adrenal glands to make too much or too little of one or more hormones.
• Infections

In many cases the cause of the problem isn't clear.

Health care providers use different tests to check for adrenal disorders depending on your symptoms and health history. For example, you may have tests of your blood, urine (pee), or saliva (spit). These tests check your hormone levels. Your provider may order x-rays, CT scans, or MRI scans to look for tumors.

Different types of adrenal gland disorders have different treatments. They include medicines and surgery. Radiation therapy is sometimes a treatment for tumors. There are treatments to cure certain adrenal gland disorders. For other disorders, treatments can manage your symptoms.

NIH: National Institute of Child Health and Human Development