Leukodystrophies Summary The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with Movement Speaking Vision Hearing Mental and physical development Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time. There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies. NIH: National Institute of Neurological Disorders and Stroke National Institute of Neurological Disorders and Stroke Specifics 4H Syndrome United Leukodystrophy Foundation Adrenoleukodystrophy National Institute of Neurological Disorders and Stroke Adrenoleukodystrophy (ALD) National Marrow Donor Program Adrenomyeloneuropathy (AMN) United Leukodystrophy Foundation Aicardi-Goutieres Syndrome Disorder National Institute of Neurological Disorders and Stroke Alexander Disease National Institute of Neurological Disorders and Stroke CADASIL National Institute of Neurological Disorders and Stroke Canavan Disease National Institute of Neurological Disorders and Stroke Cerebral Autosomal Dominant Arteriopathy with Subcortical Infacts and Leukoencephalopathy (CADASIL) United Leukodystrophy Foundation Cerebrotendinous Xanthomatosis (CTX) United Leukodystrophy Foundation Krabbe Disease Mayo Foundation for Medical Education and Research Krabbe Disease National Institute of Neurological Disorders and Stroke Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) United Leukodystrophy Foundation Metachromatic Leukodystrophy National Institute of Neurological Disorders and Stroke Pelizaeus-Merzbacher Disease National Institute of Neurological Disorders and Stroke Refsum Disease National Institute of Neurological Disorders and Stroke Sjogren-Larsson Syndrome United Leukodystrophy Foundation Types of Leukodystrophies United Leukodystrophy Foundation Vanishing White Matter Disease United Leukodystrophy Foundation Zellweger Spectrum United Leukodystrophy Foundation Zellweger Syndrome National Institute of Neurological Disorders and Stroke Encyclopedia Adrenoleukodystrophy Canavan disease Krabbe disease Metachromatic leukodystrophy Clinical Trials ClinicalTrials.gov: Adrenoleukodystrophy National Institutes of Health ClinicalTrials.gov: Canavan Disease National Institutes of Health ClinicalTrials.gov: Leukodystrophy, Globoid Cell National Institutes of Health ClinicalTrials.gov: Leukodystrophy, Metachromatic National Institutes of Health Find an Expert Genetic and Rare Diseases Information Center Genetic and Rare Diseases Information Center National Institute of Neurological Disorders and Stroke National Institute of Neurological Disorders and Stroke Genetics Genetic Inheritance United Leukodystrophy Foundation Genetics Home Reference: 18q deletion syndrome National Library of Medicine Genetics Home Reference: adult-onset leukoencephalopathy with axonal spheroids and pigmented glia National Library of Medicine Genetics Home Reference: Aicardi-Goutieres syndrome National Library of Medicine Genetics Home Reference: Alexander disease National Library of Medicine Genetics Home Reference: Canavan disease National Library of Medicine Genetics Home Reference: cerebral folate transport deficiency National Library of Medicine Genetics Home Reference: D-bifunctional protein deficiency National Library of Medicine Genetics Home Reference: hypomyelination and congenital cataract National Library of Medicine Genetics Home Reference: Krabbe disease National Library of Medicine Genetics Home Reference: leukoencephalopathy with vanishing white matter National Library of Medicine Genetics Home Reference: megalencephalic leukoencephalopathy with subcortical cysts National Library of Medicine Genetics Home Reference: metachromatic leukodystrophy National Library of Medicine Genetics Home Reference: Pelizaeus-Merzbacher disease National Library of Medicine Genetics Home Reference: peroxisomal acyl-CoA oxidase deficiency National Library of Medicine Genetics Home Reference: Pol III-related leukodystrophy National Library of Medicine Genetics Home Reference: X-linked adrenoleukodystrophy National Library of Medicine Genetics Home Reference: Zellweger spectrum disorder National Library of Medicine Treatments and Therapies How Transplant Can Treat ALD National Marrow Donor Program Krabbe Disease (GLD) National Marrow Donor Program Start Here Leukodystrophy National Institute of Neurological Disorders and Stroke What Is Leukodystrophy United Leukodystrophy Foundation Diagnosis and Tests Magnetic Resonance Imaging (MRI) United Leukodystrophy Foundation Journal Articles Leukodystrophies
