Leukodystrophy

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, resulting 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 Gourtieres syndrome
  • Alexander disease
  • Canavan disease
  • Cerebrotendinous Xanthomatosis
  • Childhood ataxia and cerebral hypomyelination/Vanishing white matter disease
  • Fucosidosis
  • 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

Symptoms

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.

Treatment

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 leukodystrophies. It is our hope that ongoing research will provide additional treatments or cures in the future.

Our Unique Approach

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 will be evaluated by all providers and a combined treatment plan will be developed. Additional providers in the areas of stem cell transplant, neuropsychology, palliative care, genetics and neuroradiology are also available for consultation if needed.

Our team is also 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 of 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 an overall understanding and support, we hope to improve the lives of the children diagnosed with leukodystrophies.

Make an appointment

Contact us with any questions that you have about our center.

Meet the Team

U.S. News & World Report ranks us among the top pediatric neurology and neurosurgery programs in the country. Our program combines 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 Program Director, Stephanie Keller, MD, and Associate Program Directors, Elizabeth Poplawski, DO and Udayan Kulkarni, MD.

Neurology

Physiatry

Neuropsychology

Genetic Counseling 

  • Rachel Logan, MMSc, CGC

Physical Therapy

  • Mary Ritchey, PT, DPT

Social Work

  • Laveda Doxey, LCSW

Clinical Care Coordinator

  • Selina Kala, RN

Helpful Resources

  • Global Leukodystrophy Initiative: The Global Leukodystrophy Initiative 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, providing specialty services that benefit the leukodystrophy community. The 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 leukodystrophies. 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 leukodystrophies.
  • 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.