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Wolfram syndrome, also called DIDMOAD, is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay.
Dominant optic atrophy (DOA), or autosomal dominant optic atrophy (ADOA), (Kjer's type) is an autosomally inherited disease that affects the optic nerves, causing reduced visual acuity and blindness beginning in childhood. However, the disease can seem to re-present a second time with further vision loss due to the early onset of presbyopia symptoms (i.e., difficulty in viewing objects up close). DOA is characterized as affecting neurons called retinal ganglion cells (RGCs). This condition is due to mitochondrial dysfunction mediating the death of optic nerve fibers. The RGCs axons form the optic nerve. Therefore, the disease can be considered of the central nervous system. Dominant optic atrophy was first described clinically by Batten in 1896 and named Kjer’s optic neuropathy in 1959 after Danish ophthalmologist Poul Kjer, who studied 19 families with the disease. Although dominant optic atrophy is the most common autosomally inherited optic neuropathy (i.e., disease of the optic nerves), it is often misdiagnosed.
Muckle–Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes (CAPS).
Neonatal-onset multisystem inflammatory disease is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. Symptoms include skin rashes, severe arthritis, and chronic meningitis leading to neurologic damage. It is one of the cryopyrin-associated periodic syndromes.
Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.
Brown-Vialetto-Van-Laere syndrome (BVVL), sometimes known as Brown's Syndrome, is a rare degenerative disorder often initially characterized by progressive sensorineural deafness.
EAST syndrome is a syndrome consisting of epilepsy, ataxia, sensorineural deafness and salt-wasting renal tubulopathy. The tubulopathy in this condition predispose to hypokalemic metabolic alkalosis with normal blood pressure. Hypomagnesemia may also be present.
Mohr–Tranebjærg syndrome (MTS) is a rare X-linked recessive syndrome also known as deafness–dystonia syndrome and caused by mutation in the TIMM8A gene. It is characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes are accompanied by cortical deterioration of vision and mental deterioration.
Arts syndrome is a rare metabolic disorder that causes serious neurological problems in males due to a malfunction of the PRPP synthetase 1 enzyme. Arts Syndrome is part of a spectrum of PRPS-1 related disorders with reduced activity of the enzyme that includes Charcot–Marie–Tooth disease and X-linked non-syndromic sensorineural deafness.
Autosomal recessive cerebellar ataxia describes a heterogeneous group of rare genetic disorders with an autosomal recessive inheritance pattern and a clinical phenotype involving cerebellar ataxia.
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a rare progressive genetic disorder that primarily affects the nervous system and is characterized by sensorineural hearing loss, narcolepsy with cataplexy, and dementia later in life. People with this disorder usually start showing symptoms when they are in their early-mid adulthoods. It is a type of autosomal dominant cerebellar ataxia.
Chudley–Mccullough syndrome is a rare genetic disorder which is characterized by bilateral congenital hearing loss associated with brain malformations. It is a type of syndromic deafness.
Boucher-Neuhäuser syndrome is a very rare genetic disorder which is characterized by a triad consisting of cerebellar ataxia, chorioretinal dystrophy, and hypogonadism.
GOSR2-related progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of progressive myoclonus ataxia which is characterized by progressive myoclonic epilepsy with an early onset which is associated with generalized tonic-clonic seizures, petit mal seizures, and drop attacks, variable degrees of scoliosis, areflexia, high levels of creatine kinase serum, and late-onset cognitive decline.
Palmoplantar keratoderma with deafness, also known as Palmoplantar keratoderma-deafness syndrome is a rare genetic disorder which is characterized by either focal or diffuse early-onset palmoplantar keratoderma and sensorineural deafness. Transmission is autosomal dominant with incomplete penetrance.
Olivopontocerebellar atrophy-deafness syndrome is a rare genetic disorder characterized by olivopontocerebellar atrophy which begins in infancy, sensorineural hearing loss, and speech delay. Additional findings include cerebellar ataxia. Inheritance pattern varies among families.
X-linked Charcot–Marie–Tooth disease is a group of genetic disorders and a type of Charcot–Marie–Tooth disease characterized by sensory loss associated with muscle weakness and atrophy alongside many other symptoms.
Corneal dystrophy-perceptive deafness syndrome, also known as Harboyan syndrome, is a rare genetic disorder characterized by congenital hereditary corneal dystrophy that occurs alongside progressive hearing loss of post-lingual onset.
Wolfram-like syndrome is a rare autosomal dominant genetic disorder that shares some of the features shown by those affected with the autosomal recessive Wolfram syndrome. It is a type of WFS1-related disorder.
References
- ↑ "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) - 1 2 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.
- 1 2 3 4 "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.