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Disease Profile
Neuronal ceroid lipofuscinosis 3
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.
0
Age of onset
Childhood
ICD-10
E75.4
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)
Juvenile neuronal ceroid lipofuscinosis; Vogt Spielmeyer disease; Spielmeyer Sjogren disease;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is a rare condition that affects the nervous system. Signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported. Affected people may experience rapidly progressive vision loss,
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal electroretinogram | 0000512 | |
Abnormal pyramidal sign | 0007256 | |
Abnormality of extrapyramidal motor function | 0002071 | |
Abnormality of visual evoked potentials | 0000649 | |
0001251 | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Bilateral tonic-clonic |
Grand mal seizures
|
0002069 |
Blindness | 0000618 | |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
0002353 | ||
Focal-onset seizure |
Seizure affecting one half of brain
|
0007359 |
Iris hypopigmentation |
Light eye color
|
0007730 |
Motor deterioration |
Progressive degeneration of movement
|
0002333 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal cerebellum morphology |
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ] |
0001317 |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
0000007 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Concentric hypertrophic |
0005157 | |
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 0003205 | |
Difficulty articulating speech
|
0001260 | |
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | 0003208 | |
0000501 | ||
Increased extraneuronal autofluorescent lipopigment | 0003463 | |
Increased neuronal autofluorescent lipopigment | 0002074 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Macular degeneration | 0000608 | |
Myoclonus | 0001336 | |
Optic atrophy | 0000648 | |
Parkinsonism | 0001300 | |
Progressive inability to walk | 0002505 | |
Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] |
0000529 |
Psychomotor deterioration | 0002361 | |
Psychosis | 0000709 | |
Rod-cone dystrophy | 0000510 | |
Seizure | 0001250 | |
Undetectable electroretinogram | 0000550 | |
Vacuolated |
0001922 |
Cause
Although researchers do not completely understand how mutations in the CLN3 gene lead to the signs and symptoms of CLN3-NCL, they appear to disrupt the function of lysosomes (structures in the cell that normally digest and recycle different substances). When the lysosomes don't work properly, lipopigments (materials made of fats and proteins) build up in cells of the brain and the eye as well as in skin, muscle, and many other
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.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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During the initial stage of the disease; retinitis pigmentosa (see this term) may be suspected. Later in the disease course; the differential diagnosis may also include other causes of dementia and seizures at school age, including mitochondrial disorders and subacute sclerosing panencephalitis (see this term).
Visit the Orphanet disease page for more information.
|
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 Supporting this Disease
-
Batten Disease Support and Research Association (BDSRA)
2780 Airport Drive, Suite 342
Columbus, OH 43219
Toll-free: 1-800-448-4570
Fax: 1-866-648-8718
E-mail: https://bdsra.org/contact-us/
Website: https://bdsra.org/ -
Beyond Batten Disease Foundation
PO Box 50221
Austin, TX 78763
Toll-free: 1-877-6BATTEN
Telephone: +1-512-275-2600
Fax: 512-637-6333
E-mail: [email protected]
Website: https://beyondbatten.org/ -
Nathan's Battle Foundation
459 South State Road 135 South
Greenwood, IN 46142
Telephone: 317-888-7396
Fax: 317-888-0504
E-mail: [email protected]
Website: https://www.nathansbattle.com
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 was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Neuronal ceroid lipofuscinosis 3. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Neuronal ceroid lipofuscinosis 3. Click on the link to view a sample search on this topic.
References
- Mole SE, Williams RE. Neuronal Ceroid-Lipofuscinoses. GeneReviews. August 1, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1428/.
- Chang CH. Neuronal Ceroid Lipofuscinoses. Medscape Reference. May 4, 2017; https://emedicine.medscape.com/article/1178391-overview.
- Juvenile Batten disease. Genetics Home Reference. September 2013; https://ghr.nlm.nih.gov/condition/juvenile-batten-disease.
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