Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
Leukoencephalopathy with brain stem and spinal cord involvement high lactate; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement lactate elevation;
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar
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||
|80%-99% of people have these symptoms|
|Abnormality of the dorsal column of the spinal cord||0011397|
|30%-79% of people have these symptoms|
Difficulty in walking
|Distal muscle weakness||
Weakness of outermost muscles
Difficulty articulating speech
|Progressive inability to walk||0002505|
|5%-29% of people have these symptoms|
Abnormality of cognition
[ more ]
Decreased reflex response
[ more ]
|Impaired distal proprioception||0006858|
|Impaired vibration sensation in the lower limbs||
Decreased lower limb vibratory sense
Decreased vibratory sense in lower limbs
Decreased vibratory sense in the lower extremities
Decreased vibratory sense in the lower limbs
Diminished vibratory sensation in the legs
[ more ]
|Impaired visuospatial constructive cognition||0010794|
|Increased CSF lactate||0002490|
|Increased serum lactate||0002151|
|Leg muscle stiffness||0008969|
Cognitive decline, progressive
Progressive cognitive decline
[ more ]
|Peripheral axonal neuropathy||0003477|
|Poor fine motor coordination||0007010|
|1%-4% of people have these symptoms|
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
[ more ]
Degeneration of cerebellum
Degeneration of cerebrum
Flexed joint that cannot be straightened
|Generalized limb muscle atrophy||
Generalized muscle wasting
[ more ]
|Hypoplasia of the
Underdevelopment of part of brain called corpus callosum
|Impaired pursuit initiation and maintenance||0007668|
Mental retardation, nonspecific
[ more ]
Low or weak muscle tone
Involuntary, rapid, rhythmic eye movements
Peripheral nerve disease
Drooping upper eyelid
|Slow saccadic eye movements||
Slow eye movements
Instability or lack of coordination of central trunk muscles
|Percent of people who have these symptoms is not available through HPO|
|Skeletal muscle atrophy||
[ more ]
Signs and symptoms worsen slowly with time
Involuntary muscle stiffness, contraction, or spasm
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.
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.
- Genetics Home Reference (GHR) contains information on Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation . This website is maintained by the National Library of Medicine.
- 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.
- van der Knaap MS & Salomons GS. Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation. GeneReviews. February 12, 2015; https://www.ncbi.nlm.nih.gov/books/NBK43417/. Accessed 6/24/2015.