Leukodystrophy: What is it, Types, Symptoms, Treatment

Leukodystrophies are a group of rare neurological (nervous system) diseases. They affect the white matter in the brain and spinal cord. White matter is tissue made of insulated nerve fibers.

Leukodystrophies target myelin, which is the protective insulation covering nerve cells. Without myelin, nerves can’t communicate well. Leukodystrophies lead to a progressive loss of neurological function. The brain and the body can’t receive signals from each other. These diseases are often fatal.

Leukodystrophy

Are there different types of leukodystrophy?

Researchers have identified more than 50 types of leukodystrophy. They’re still discovering new forms. Each form of leukodystrophy is the result of a different gene mutation (change) and causes different symptoms.

Who gets leukodystrophy?

Leukodystrophies usually affect infants and young children. But some forms of the disease don’t cause symptoms until people are adults. Most leukodystrophies affect males and females equally. But some, such as Pelizaeus-Merzbacher disease, mostly appear in males. Some ethnicities have a higher risk for certain leukodystrophies.

How common is leukodystrophy?

Each type of leukodystrophy is rare. Together they affect about 1 in 7,000 live births.

What causes leukodystrophy?

Leukodystrophy is the result of changes (mutations) to genes. These genes control the growth or function of myelin. Without this protective covering, nerve cells don’t work correctly.

Most leukodystrophies come from parents passing the genes to their children (inherited). But sometimes gene mutations happen suddenly as cells grow and divide.

You can have a mutated leukodystrophy gene without developing the disease. This means you’re a carrier. Carriers can still pass the mutated genes on to their children.

What are the symptoms of leukodystrophy?

The symptoms of leukodystrophy vary widely across the different disease types. But most forms of the disease result in gradual loss of neurological function. This means the body and brain have trouble talking to each other. Leukodystrophies can cause problems with:

  • Balance.
  • Breathing.
  • Cognition (learning, thinking, remembering).
  • Eating and swallowing.
  • Hearing.
  • Movement, balance and coordination.
  • Speech.
  • Vision.

What are some symptoms of the different types of leukodystrophy?

Each type of leukodystrophy causes different symptoms. Some include:

  • Adrenoleukodystrophy (ALD) is the most common leukodystrophy. It affects white matter and the adrenal gland, which controls hormone production. Symptoms start in childhood or early adulthood. They range from seizures to paralysis (loss of muscle function).
  • Adult-onset autosomal dominant leukodystrophy (ADLD) appears around age 40 or 50. It prevents brain cell development and myelin production. ADLD causes problems with movement and cognition (thinking and remembering). It also affects involuntary (automatic) body functions like blood pressure and heart rate.
  • Alexander disease causes clumps of protein to form in brain cells. It develops in newborns or children. The disease leads to developmental delays and loss of motor skills (muscle movement).
  • Canavan disease causes spongy, fluid-filled spaces to form in the brain. It prevents the brain from metabolizing (breaking down) brain chemicals and forming myelin. Symptoms usually appear in early infancy.
  • Cerebrotendinous xanthomatosis (CTX) causes abnormal storage of fats throughout the body. It affects the white matter, tendons (tissue that attaches muscle to bone) and heart. Symptoms appear in childhood and progress through adulthood.
  • Childhood ataxia with central nervous system hypomyelination (CACH) disrupts myelin formation. It’s also called vanishing white matter (VWM) disease. CACH causes optic atrophy (deterioration of the main nerve in the eye) and speech loss in the first 5 years of life. It also leads to seizures, ataxia (balance and movement problems) and spasticity (abnormal muscle tightness).
  • Krabbe disease is also called globoid cell leukodystrophy. It causes fatty acids build up and destroy myelin. The disease can cause seizures, delays in development and peripheral neuropathy. Symptoms usually appear in early infancy.
  • Metachromatic leukodystrophy causes lipids (fats) to build up in white matter and nerves, becoming toxic. It can appear in babies, children or adults. Complications include seizures, dementia and blindness.
  • Pelizaeus-Merzbacher disease (PMD) causes problems with myelin production. It mainly affects males. The disease can lead to problems with muscle movement, balance and mental function.
  • Refsum disease causes a fatty acid to build up in cells and harm myelin. Adult Refsum disease (ARD) leads to problems with the brain, eyes, liver, kidneys and bones. Infantile Refsum disease affects muscle movement.

How is leukodystrophy diagnosed?

Your healthcare provider:

  • Evaluates your symptoms.
  • Performs physical and neurological exams.
  • Reviews your personal and family health history.

Other tests may include:

  • Blood and saliva tests to check for mutated genes in your DNA.
  • Imaging exams, such as an MRI or CT scan, to check the white matter in your brain and spinal cord.

Even with testing, leukodystrophy is difficult to diagnose due to the wide-ranging symptoms. Many leukodystrophies go undiagnosed.

How is leukodystrophy treated?

There’s no cure for leukodystrophy. The following treatments may ease symptoms and preserve some neurological function:

  • Medication for seizures, muscle tightness and movement problems.
  • Nutritional therapy or feeding tubes for eating and swallowing problems.
  • Hormone therapy for adrenal gland dysfunction.
  • Physical, occupational and speech therapy for mobility, balance, speaking and other skills.

A stem cell or bone marrow transplant may improve some types of leukodystrophy. Chenodeoxycholic acid (CDCA) replacement therapy can treat CTX if it’s diagnosed early. CTX is currently the only treatable form of leukodystrophy.

How can I prevent leukodystrophy?

There’s no way to prevent leukodystrophy. Genetic testing can help determine your risk for passing the genes on to your children or grandchildren.

What is the outlook for people with leukodystrophy?

Leukodystrophies are progressive, so the neurological problems get worse over time. They’re usually fatal. Many children with leukodystrophy die before their teenage years. Some people survive into adulthood.

What should I do if I have the leukodystrophy gene mutation?

If you’re a carrier of a gene mutation that causes leukodystrophy, you may want to consider genetic counseling. A genetic counselor reviews your family history and helps you determine your risk of passing a mutated gene to your children or grandchildren.

Dr Rohit Bhaskar, Physio
Dr Rohit Bhaskar, Physio Dr. Rohit Bhaskar, Physio is Founder of Bhaskar Health and Physiotherapy and is also a consulting physiotherapist. He completed his Graduation in Physiotherapy from Uttar Pradesh University of Medical Sciences. His clinical interests are in Chest Physiotherapy, stroke rehab, parkinson’s and head injury rehab. Bhaskar Health is dedicated to readers, doctors, physiotherapists, nurses, paramedics, pharmacists and other healthcare professionals. Bhaskar Health audience is the reason I feel so passionate about this project, so thanks for reading and sharing Bhaskar Health.

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