CAPOS syndrome
| CAPOS syndrome | |
|---|---|
| Other names | CAPOS CAPOS syndrome. Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome. Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss.[1] |
| Specialty | Medical genetics, Ophthalmology, Neurology, Podology |
| Symptoms | Mainly cerebellar ataxia, sensorineural hearing loss, and optic nerve atrophy |
| Complications | Blindness, deafness, problems with coordination. |
| Usual onset | During a fever |
| Duration | Lifelong |
| Types | It is a type of ATP1A3-related disorder |
| Causes | Genetic mutation |
| Prevention | None |
| Treatment | Symptom-centred |
| Prognosis | Medium (with treatment), bad (without treatment |
| Frequency | rare, only 14 cases have been described in medical literature |
| Deaths | - |
CAPOS syndrome is a rare genetic neurological disorder which is characterized by abnormalities of the feet, eyes and brain which affect their normal function. These symptoms occur episodically when a fever-related infection is present within the body.[2][3] The name is an acronym for "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss".[4]
Signs and symptoms[edit]
Usually, individuals with this condition have cerebellar ataxia, areflexia, high-arched feet, optic nerve wasting/degeneration, sensorineural deafness.[5]
These symptoms have variable onset, but they generally begin episodically after having a fever-causing infection such as the common cold, manifesting mainly as sudden-onset ataxic episodes and encephalopathy. Other triggers include pregnancy and giving birth. Other symptoms that occur during the episodic ataxia includes hypotonia, nystagmus, strabismus, dysarthria, dysphagia, areflexia/hyporeflexia, and temporary deafness. More serious symptoms include loss of consciousness and/or onset of a coma.[5]
These symptoms usually improve alongside the illness that caused the fever.[5]
General frequency of episodes with people suffering from CAPOS syndrome is 1-3.[5]
Complications[edit]
There are various complications associated with the disorder, some of them include vision impairment/blindness due to optic atrophy characteristic of the disorder, deafness due to atrophy of the nerves that aid in hearing, problems with walking due to the ataxia, etc.
Causes[edit]
This condition is caused by autosomal dominant missense mutations in the ATP1A3 gene, in chromosome 19. The mutation is thought to be gain-of-function.[6]
Epidemiology[edit]
According to OMIM,[7] only 14 cases have been described in medical literature.
History[edit]
This condition was first discovered in 1996 by Nicolaides et al. when they described a mother and two siblings (brother and sister) with (summarized) early-onset reoccurring cerebellar ataxia and progressive optic atrophy accompanied by sensorineural deafness.[4]
References[edit]
- ^ "Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss". Archived from the original on 2022-05-13. Retrieved 2022-06-30.
- ^ "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome". www.ebi.ac.uk. Archived from the original on 2022-06-30. Retrieved 2022-06-30.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Cerebellar ataxia areflexia pes cavus optic atrophy sensorineural hearing loss syndrome". www.orpha.net. Archived from the original on 2019-07-09. Retrieved 2022-06-30.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ a b Nicolaides, P.; Appleton, R. E.; Fryer, A. (1996-05-01). "Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome". Journal of Medical Genetics. 33 (5): 419–421. doi:10.1136/jmg.33.5.419. ISSN 0022-2593. PMC 1050615. PMID 8733056.
- ^ a b c d "Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 2021-04-14. Retrieved 2022-06-30.
- ^ Demos, Michelle K.; van Karnebeek, Clara Dm; Ross, Colin Jd; Adam, Shelin; Shen, Yaoqing; Zhan, Shing Hei; Shyr, Casper; Horvath, Gabriella; Suri, Mohnish; Fryer, Alan; Jones, Steven Jm (2014-01-28). "A novel recurrent mutation in ATP1A3 causes CAPOS syndrome". Orphanet Journal of Rare Diseases. 9: 15. doi:10.1186/1750-1172-9-15. ISSN 1750-1172. PMC 3937150. PMID 24468074.
- ^ "OMIM Entry - # 601338 - Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; CAPOS". omim.org. Archived from the original on 2022-01-19. Retrieved 2022-06-30.