Rare Pediatrics News
Disease Profile
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
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.
<1 / 1 000 000
Age of onset
Infancy
ICD-10
G11.1
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)
CAPOS; CAPOS syndrome; Cerebellar ataxia areflexia pes cavus optic atrophy sensorineural hearing loss;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Cerebellar
- Cerebellar ataxia: inflammation of the cerebellum, the part of the brain that helps control the coordination of muscle movement
- Areflexia: loss of reflexes
- Pes cavus: high arch in foot
- Optic atrophy: damage to the optic nerve of the eye
- Sensorinural hearing loss: damage to the nerves involved in hearing
CAPOS syndrome typically begins after a fever-related illness with a sudden episode of ataxia, such as having a hard time walking or coordinating leg or arm movements. The ataxia is usually associated with generalized weakness and/or inflammation of the brain (
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 | ||
| Areflexia |
Absent tendon reflexes
|
0001284 |
| 0001251 | ||
| 0001298 | ||
| Muscle weakness |
Muscular weakness
|
0001324 |
| Optic atrophy | 0000648 | |
| Sensorineural hearing impairment | 0000407 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of eye movement |
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ] |
0000496 |
| Autistic behavior | 0000729 | |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
| 0001332 | ||
| Pes cavus |
High-arched foot
|
0001761 |
| 0001250 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Blindness | 0000618 | |
|
Difficulty articulating speech
|
0001260 | |
| Dysmetria |
Lack of coordination of movement
|
0001310 |
| Episodic generalized |
0006852 | |
| Gait ataxia |
Inability to coordinate movements when walking
|
0002066 |
| Hemiparesis |
Weakness of one side of body
|
0001269 |
| Incoordination |
Difficulties in coordination
Incoordination of limb movements
Limb incoordination
[ more ] |
0002311 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Progressive sensorineural hearing impairment | 0000408 | |
| 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 |
| Truncal ataxia |
Instability or lack of coordination of central trunk muscles
|
0002078 |
Cause
Other syndromes that may also be caused by different changes or mutations in the ATP1A3
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.
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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss. Click on the link to view a sample search on this topic.
References
- Brashear A, Sweadner KJ, Cook JF, et al. ATP1A3-Related Neurologic Disorders. GeneReviews. November 6, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1115/.
- Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA. Novel pregnancy-triggered episodes of CAPOS syndrome. Am J Med Genet. November 1, 2017; https://www.ncbi.nlm.nih.gov/pubmed/29090527.
- Duat Rodriguez A, Prochazkova M, Santos Santos S, Rubio Cabezas O, Cantarin Extremera V, Gonzalez-Gutierrez-Solana L. Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family. Pediatr Neurol. June, 2017; 7160-64:https://www.ncbi.nlm.nih.gov/pubmed/28483396.
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