SciELO - Scientific Electronic Library Online

vol.20 issue3Ophthalmologic manifestations of leishmaniasis: a case reportThe active ageing: importance of its promotion for aging societies author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




  • Have no cited articlesCited by SciELO

Related links

  • Have no similar articlesSimilars in SciELO


Revista Archivo Médico de Camagüey

On-line version ISSN 1025-0255


TORRALBAS FITZ, Sergio José et al. Spinocerebellar ataxia type 2 and Ehlers-Danlos syndrome: report of a case. AMC [online]. 2016, vol.20, n.3, pp.322-329. ISSN 1025-0255.

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. Case report: 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.


        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License