Leukodystrophies are a rare group of inherited diseases that affect the white matter of the brain and spinal cord. The white matter is the inner layer of the brain and is made up of myelin and glia cells. Myelin provides a protective covering to the nerves in the brain, spine and peripheral nerves. People with leukodystrophies have an abnormal gene that results in the loss of proteins or enzymes. The missing proteins or enzymes cause abnormal development or injury to the cells and myelin in the brain. Without myelin, the nerves cannot function properly, leading to a wide range of neurologic symptoms.
Examples of leukodystrophies include:
- Aicardi Goutieres syndrome
- Alexander disease
- Canavan disease
- Cerebrotendinous xanthomatosis
- Childhood ataxia and cerebral hypomyelination, or vanishing white matter disease
- GM1 gangliosidosis
- Hypomyelination with atrophy of the brainstem and cerebellum (H-ABC)
- Krabbe disease
- Megalencephalic leukodystrophy
- Metachromatic leukodystrophy
- Multiple sulfatase deficiency
- Pelizaeus-Merzbacher disease
- Pol-III related disorders (4-H syndrome)
- Salla disease
- X-linked adrenoleukodystrophy
- Zellweger spectrum disorders
What are symptoms of leukodystrophy?
There are more than 30 different leukodystrophies and many more related genetic leukoencephalopathies that may share symptoms with leukodystrophies. Symptoms can arise at any age. Common symptoms include slow development or loss of skills, decreased muscle strength, stiffness of the arms or legs, imbalance and problems with speech or feeding. Cognitive impairment, seizures, vision and hearing loss, peripheral neuropathy and endocrine problems may also be present. The rate of disease progression is variable.
What are treatment options for leukodystrophy?
Some leukodystrophies may be treated with stem cell transplant or gene therapy, while others may not have a direct treatment. However, symptom management and prevention of complications can still make a significant difference in the quality of life for patients with leukodystrophy. It is our hope at Children’s Healthcare of Atlanta that ongoing research will provide additional treatments or cures in the future.
The Children’s Healthcare of Atlanta Leukodystrophy Care Center is a multidisciplinary clinic that includes a team of providers from neurology, physiatry, physical therapy and social work. At the center, patients are evaluated by all providers and a combined treatment plan is developed. Additional providers in the areas of stem cell transplant, neuropsychology, palliative care, genetics and neuroradiology are available for consultation if needed.
Our team is linked to other leukodystrophy centers nationally and internationally through our membership in the Global Leukodystrophy Initiative (GLIA) and as an affiliate center of the Leukodystrophy Care Network (LCN). The goal at our center is to provide patients and families with a comprehensive team that is familiar with these rare and complex diseases. Through education, research, comprehensive care and overall understanding and support, we hope to improve the lives of children diagnosed with leukodystrophy.
U.S. News & World Report ranks us among the top pediatric neurology and neurosurgery programs in the country. We combine the latest proven technology and research with a caring, child-friendly approach, making Children’s a top choice for treatment of neurological conditions and injuries. Our program is led by Stephanie Keller, MD, Program Director, and Elizabeth Poplawski, DO, and Udayan Kulkarni, MD, Associate Program Directors.
- Rachel Logan, MMSc, CGC
Clinical care coordinator
- Global Leukodystrophy Initiative (GLIA): The GLIA is a global network of clinicians, researchers and advocates seeking to develop a collaborative platform to promote basic science approaches and accelerate development of clinical trials in the leukodystrophies.
- Leukodystrophy Care Network (LCN): Children’s is an LCN Certified Center, meeting or exceeding the Criteria for LCN Center Certification and providing specialty services that benefit the leukodystrophy community. LCN is a community of patient families, organizations and medical providers committed to revolutionizing the health and quality of life of individuals with leukodystrophies by providing proactive, innovative and comprehensive medical care standards and specialized centers.
- Leukodystrophy Family Forum: This forum includes a community of friends and families affected by leukodystrophy. With the support and guidance of nurses, doctors, researchers, social workers, child life specialists and other patient advocates, they have created a resource for people caring for a loved one with leukodystrophy.
- United Leukodystrophy Foundation: The United Leukodystrophy Foundation is a voluntary nonprofit dedicated to funding cutting-edge research and providing patients and families with information about the disease, as well as medical referrals.
- Daniel’s Fight: Daniel’s Fight helps raise awareness for Alexander disease and Alexander disease research.