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Disease Profile
Leukoencephalopathy with vanishing white matter
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
E75.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Childhood ataxia with diffuse central nervous system hypomyelination; CACH syndrome; CACH/VWM syndrome;
Categories
Congenital and Genetic Diseases
Summary
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
30%-79% of people have these symptoms | ||
Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
5%-29% of people have these symptoms | ||
Blindness | 0000618 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cerebral hypomyelination | 0006808 | |
Cessation of head growth |
Head stopped growing
|
0004485 |
0007305 | ||
Decreased circulating |
Decreased serum progesterone
|
0008233 |
Delusions | 0000746 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Difficulty articulating speech
|
0001260 | |
Emotional lability |
Emotional instability
|
0000712 |
Fever | 0001945 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Gliosis | 0002171 | |
Lethargy | 0001254 | |
Leukoencephalopathy | 0002352 | |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Optic atrophy | 0000648 | |
Personality changes |
Personality change
|
0000751 |
Premature ovarian insufficiency |
Early menopause
Premature menopause
Premature ovarian failure
[ more ] |
0008209 |
Primary amenorrhea | 0000786 | |
Primary gonadal insufficiency | 0008193 | |
Secondary amenorrhea |
Previous menstrual periods stop
|
0000869 |
0001250 | ||
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Unsteady gait |
Unsteady walk
|
0002317 |
Cause
Mutations in any of these 5 genes results in partial loss of eIF2B function, making it more difficult for cells to regulate protein synthesis and deal with changing conditions and stress. Researchers believe that cells in the white matter may be particularly affected by an abnormal response to stress, thus causing the signs and symptoms of this condition.[1]
Approximately 90% of affected people have been found to have mutations in one of these 5 genes. Approximately 10% of families who have been diagnosed by
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Infections and fevers should be prevented when possible through the use of vaccinations; low-dose maintenance
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Providing General Support
-
Alex The Leukodystrophy Charity (Alex TLC)
45 Peckham High Street
London, SE15 5EB United Kingdom
Telephone: 020 7701 4388
E-mail: [email protected]
Website: https://www.alextlc.org -
United Leukodystrophy Foundation (ULF)
224 North Second Street
Suite 2
DeKalb, IL 60115
Toll-free: 1-800-728-5483
Telephone: +1-815-748-3211
Fax: +1-815-748-0844
E-mail: [email protected]
Website: https://ulf.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus Genetics contains information on Leukoencephalopathy with vanishing white matter. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Orphanet
Orphanet - PubMed is a searchable database of medical literature and lists journal articles that discuss Leukoencephalopathy with vanishing white matter. Click on the link to view a sample search on this topic.
References
- Leukoencephalopathy with vanishing white matter. Genetics Home Reference. May, 2013; https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-vanishing-white-matter.
- Raphael Schiffmann, Anne Fogli, Marjo S van der Knaap, and Odile Boespflug-Tanguy. Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter. GeneReviews. August 9, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1258/.
- Odile Boespflug-Tanguy, Anne Fogli, Pierre Labauge, Florence Niel Buetschi, and Diana Rodriguez. CACH syndrome. Orphanet. September, 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135.
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