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Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
SpecialtyMedical genetics
Preventionnone
Frequencyvery 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

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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

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It is caused by autosomal recessive mutations in the POLG gene.[3][4]

Epidemiology

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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

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  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Sensory ataxic neuropathy dysarthria ophthalmoparesis syndrome". www.orpha.net. Retrieved 2022-06-11.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ "Sensory ataxic neuropathy dysarthria and ophthalmoparesis". www.uniprot.org. Retrieved 2022-06-11.
  3. ^ Angelini, Corrado (2014), Angelini, Corrado (ed.), "SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis)", 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, retrieved 2022-06-11
  4. ^ "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-11.
  5. ^ "OMIM Entry - # 607459 - SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO". www.omim.org. Retrieved 2022-06-11.
  6. ^ 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. S2CID 21279870.
  7. ^ 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. S2CID 17441693.
  8. ^ Van Goethem, G.; Martin, J. J.; Dermaut, B.; Löfgren, A.; Wibail, A.; Ververken, D.; Tack, P.; Dehaene, I.; Van Zandijcke, M.; Moonen, M.; Ceuterick, C. (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. S2CID 2159997.
  9. ^ Van Goethem, G.; Luoma, P.; Rantamäki, M.; Al Memar, A.; Kaakkola, S.; Hackman, P.; Krahe, R.; Löfgren, A.; Martin, J. J.; De Jonghe, P.; Suomalainen, A. (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. S2CID 21590341.
  10. ^ 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. S2CID 41869547.
  11. ^ Winterthun, S.; Ferrari, G.; He, L.; Taylor, R. W.; Zeviani, M.; Turnbull, D. M.; Engelsen, B. A.; Moen, G.; Bindoff, L. A. (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. S2CID 25898594.
  12. ^ 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. PMC 492982. PMID 632821.
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