Leukodystrophy is not a single disorder. The term refers to a group of rare, primarily inherited neurological disorders known as the leukodystrophies that result from the abnormal production, processing, or development of myelin and other components of central nervous system (CNS) white matter, such as cells called oligodendrocytes and astrocytes. All leukodystrophies are the result of genetic defects (mutations). Some forms are present at birth, while others may not produce symptoms until a child becomes a toddler. A few mostly affects adults. More than 50 different leukodystrophies have been identified, among them:
- Alexander disease
- autosomal dominant leukodystrophy with autonomic diseases (ADLD)
- Canavan disease
- cerebrotendinous xanthomatosis (CTX)
- metachromatic leukodystrophy (MLD)
- Pelizaeus-Merzbacher disease, and
- Refsum disease.
Symptoms vary according to the specific type and may be difficult to recognize in the early stages of the disorder. Each type of leukodystrophy affects myelin differently and in different parts of the CNS, leading to a range of symptoms. The most common symptom is a gradual functional decline in an infant or child who previously appeared well. Progressive loss may appear in:
- muscle tone
- balance and mobility
- walking (gait)
- ability to eat
Treatment for most types of leukodystrophy is symptomatic and supportive, and may include: medications physical, occupational, and speech therapies nutritional, educational, and recreational programs Medications can be used to manage muscle tone, seizures, and spasticity. Physical, occupational, and speech therapies may improve mobility, function, and cognitive problems. Nutritional, educational, and recreational programs also may be helpful, depending on the needs of the individual. Stem cell or bone marrow transplantation is showing promise for a few types of leukodystrophy. One of the leukodystrophies is now a treatable disease. With an early accurate diagnosis, CTX can be effectively treated with chenodeoxycholic acid (CDCA) replacement therapy.
Leukodystrophies are usually progressive, meaning they get worse as time goes on. The prognosis for the leukodystrophies varies according to the specific type of leukodystrophy.
The NINDS supports research on genetic disorders, including the leukodystrophies. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them. NINDS, in collaboration with the NIH Office of Rare Diseases Research at the National Center for Advancing Translational Sciences and the National Institute of Diabetes and Digestive and Kidney Diseases, supports the Lysosomal Disease Network (LDN). LDN uses limited resources to create centers with expertise in lysosomal diseases to help solve major challenges in diagnosis, disease management, and therapy. NINDS also supports researchers who are working with the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). The GLIA-CTN, which promotes advances in the diagnosis and treatment of leukodystrophies, is a consortium of scientists, industry stakeholders, and patient advocacy leaders. NINDS-supported scientists are creating various animal models to gain a better understanding of the leukodystrophies and studying specific types of leukodystrophy to develop better, more effective therapies for these disorders. More information about leukodystrophy research supported by NINDS and other NIH Institutes and Centers may be found using NIH RePORTER (projectreporter.nih.gov), a searchable database of current and past research projects supported by NIH and other Federal agencies. RePORTER also includes links to publications and resources from these projects. Information from the National Library of Medicine’s MedlinePlus Leukodystrophies