Leukodystrophy
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What Is Leukodystrophy?
Leukodystrophy refers to a group of over fifty rare types of genetic disorders that affect the brain, spinal cord, and nervous systems. Leukodystrophies affect approximately 1 in 7,000 births and are usually fatal.
Types of leukodystrophy include:
- Alexander Disease
- Canavan Disease
- Metachromatic leukodystrophy
- Krabbe Disease
- X-linked Adrenoleukodystrophy (X-ALD)
- Pelizaeus-Merzbacher Disease
- Vanishing White Matter Disease
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
Leukodystrophy is genetic, meaning it is passed from the parents to the child. It is caused by mutations to the genes that control the growth or function of myelin. Myelin is the protective covering of nerve cells, which is needed for nerve cells to work correctly.
Symptoms will vary based on the type of leukodystrophy, but can include difficulty with:
- Balance and coordination
- Breathing
- Learning and remembering
- Eating and swallowing
- Speech
- Vision
- Hearing
Leukodystrophy is difficult to diagnose. Testing may include:
- Neurological exams
- Blood and saliva tests
- MRI or CT scans
Our providers evaluate young infants who screen positive on the New York State newborn screen for Krabbe Disease or X-ALD.
UR Medicine's Treatments for Leukodystrophy
The UR Leukodystrophy Care Center (UR LCC) at UR Medicine provides excellent care for children with the full spectrum of inherited white matter disorders (leukodystrophies). Our center is the primary referral site for central, western and the southern tier of New York State.
We offer clinical care, including full evaluation and diagnostic services, access to monitoring, treatment, and counseling, to children and young adults up to the age of 25.
There is currently no cure for leukodystrophy. Treatment generally focuses on easing symptoms, using:
- Medication
- Nutritional therapy
- Hormone therapy
- Physical therapy
- Occupational therapy
- Speech therapy
What Sets Us Apart?
Golisano Children’s Hospital is a certified Leukodystrophy Care Network Center, in partnership with the Hunter’s Hope Foundation. The Leukodystrophy Care Network (LCN) is a community of affected families, organizations and medical providers committed to revolutionizing the health and quality of life of individuals affected by Leukodystrophies with proactive, innovative, and comprehensive medical care standards and specialized centers.
UR Medicine Neurology is a recognized leader for developing superior clinicians and scientists and has developed a national reputation for excellence in residency training in adult and child neurology and numerous subspecialties. The department is rich with dedicated faculty, an outstanding blend of academic and clinical training, exposure to nationally recognized specialists and a supportive environment provide residents with the opportunity to truly excel in their fields.