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]
| 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 | - |
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.