Spinocerebellar ataxia type 2 and Ehlers-Danlos syndrome: report of a case

Authors

  • Sergio Jose Torralbas Fitz
  • Luis Velázquez Pérez
  • Mario José Torralbas Blázquez
  • Verónica Aleyda Velázquez González
  • Roberto Rodríguez Labrada

Abstract

Background: spinocerebellar ataxia type 2 is a disease caused by the increase in the number of trinucleotide repeats consisting of adenine codon, cytosine and guanine, in the codifiable region ATNX2 gene, located in the long arm of chromosome 12. It is characterized by a syndrome cerebellar associated with progressive slowing of saccadic eye movements, peripheral neuropathy, sleep disorders and in some cases manifestations of parkinsonism. Ehlers-Danlos is given by the laxity of joints, making them unstable. The mutation of genes involved in its genesis alters the structure, production or processing of collagen, causing alterations in the structure and strength of connective tissue throughout the body.
Objective: to describe the case of a patient with spinocerebellar ataxia type 2 and Ehrler Danlos syndrome.
Clinical case: a 34- year- old white female patient, diagnosed with Ehlers-Danlos, who maintains treatment with muscle relaxants and anti-inflammatory drugs. Three years ago she was diagnosed with spinocerebellar ataxia type 2.
Conclusions: the analysis of changes in the Ehlers Danlos syndrome and of spinocerebellar ataxia type 2, through quantitative techniques and clinical observation itself, offers opportunities for enriching the study of the pathophysiology of these diseases. Both techniques are phenotypic markers to evaluate the effect of therapies which modulate the functional status of patients.
DeCS: SPINOCEREBELLAR ATAXIAS/diagnosis; EHLERS-DANLOS SYNDROME; JOINT INSTABILITY; ADULT; CASE REPORTS.

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Published

2016-06-23

How to Cite

1.
Torralbas Fitz SJ, Velázquez Pérez L, Torralbas Blázquez MJ, Velázquez González VA, Rodríguez Labrada R. Spinocerebellar ataxia type 2 and Ehlers-Danlos syndrome: report of a case. Arch méd Camagüey [Internet]. 2016 Jun. 23 [cited 2025 Aug. 2];20(3):322-9. Available from: https://revistaamc.sld.cu/index.php/amc/article/view/4501

Issue

Vol. 20 No. 3 (2016)

Section

Case Reports

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