Medicine:Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | |
|---|---|
| Specialty | Medical genetics |
| Prevention | none |
| Frequency | very rare, only 29 cases have been described in medical literature |
| Deaths | - |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, also known as SANDO syndrome, is a very rare genetic disorder which is characterized by ocular and nerve anomalies.
Signs and symptoms
This disorder is characterized by the adult-onset triad consisting of the following symptoms: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. MRIS often reveals white matter abnormalities and bilateral thalamus lesions. Other symptoms include generalized myopathy, epilepsy, and deafness.[1][2]
Causes
It is caused by autosomal recessive mutations in the POLG gene.[3][4]
Epidemiology
According to OMIM, approximately 29 cases have been described in medical literature.[5] Most of these cases came from Europe.[6][7][8][9][10][11][12]
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Sensory ataxic neuropathy dysarthria ophthalmoparesis syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70595.
- ↑ "Sensory ataxic neuropathy dysarthria and ophthalmoparesis". https://www.uniprot.org/diseases/DI-01014.
- ↑ Angelini, Corrado (2014), Angelini, Corrado, ed., "SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis)" (in en), Genetic Neuromuscular Disorders: A Case-Based Approach (Cham: Springer International Publishing): pp. 259–260, doi:10.1007/978-3-319-07500-6_59, ISBN 978-3-319-07500-6, https://doi.org/10.1007/978-3-319-07500-6_59, retrieved 2022-06-11
- ↑ "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/9998/sensory-ataxic-neuropathy-dysarthria-and-ophthalmoparesis.
- ↑ "OMIM Entry - # 607459 - SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO" (in en-us). https://www.omim.org/entry/607459.
- ↑ Fadic, R.; Russell, J. A.; Vedanarayanan, V. V.; Lehar, M.; Kuncl, R. W.; Johns, D. R. (July 1997). "Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease". Neurology 49 (1): 239–245. doi:10.1212/wnl.49.1.239. ISSN 0028-3878. PMID 9222196. https://pubmed.ncbi.nlm.nih.gov/9222196/.
- ↑ Rantamäki, M.; Krahe, R.; Paetau, A.; Cormand, B.; Mononen, I.; Udd, B. (2001-09-25). "Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family". Neurology 57 (6): 1043–1049. doi:10.1212/wnl.57.6.1043. ISSN 0028-3878. PMID 11571332. https://pubmed.ncbi.nlm.nih.gov/11571332/.
- ↑ Van Goethem, G.; Martin, J. J.; Dermaut, B.; Löfgren, A.; Wibail, A.; Ververken, D.; Tack, P.; Dehaene, I. et al. (February 2003). "Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia". Neuromuscular Disorders 13 (2): 133–142. doi:10.1016/s0960-8966(02)00216-x. ISSN 0960-8966. PMID 12565911. https://pubmed.ncbi.nlm.nih.gov/12565911/.
- ↑ Van Goethem, G.; Luoma, P.; Rantamäki, M.; Al Memar, A.; Kaakkola, S.; Hackman, P.; Krahe, R.; Löfgren, A. et al. (2004-10-12). "POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement". Neurology 63 (7): 1251–1257. doi:10.1212/01.wnl.0000140494.58732.83. ISSN 1526-632X. PMID 15477547. https://pubmed.ncbi.nlm.nih.gov/15477547/.
- ↑ Mancuso, M.; Filosto, M.; Bellan, M.; Liguori, R.; Montagna, P.; Baruzzi, A.; DiMauro, S.; Carelli, V. (2004-01-27). "POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness". Neurology 62 (2): 316–318. doi:10.1212/wnl.62.2.316. ISSN 1526-632X. PMID 14745080. https://pubmed.ncbi.nlm.nih.gov/14745080/.
- ↑ Winterthun, S.; Ferrari, G.; He, L.; Taylor, R. W.; Zeviani, M.; Turnbull, D. M.; Engelsen, B. A.; Moen, G. et al. (2005-04-12). "Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations". Neurology 64 (7): 1204–1208. doi:10.1212/01.WNL.0000156516.77696.5A. ISSN 1526-632X. PMID 15824347. https://pubmed.ncbi.nlm.nih.gov/15824347/.
- ↑ Bird, T. D.; Shaw, C. M. (February 1978). "Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome". Journal of Neurology, Neurosurgery, and Psychiatry 41 (2): 140–149. doi:10.1136/jnnp.41.2.140. ISSN 0022-3050. PMID 632821.
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