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Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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.

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
SpecialtyMedical genetics
Preventionnone
Frequencyvery rare, only 29 cases have been described in medical literature
Deaths-

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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