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Clinical and Molecular Features of Myotonic Dystrophy Type 1 in Peru (P5.066)

2016; Lippincott Williams & Wilkins; Volume: 86; Issue: 16_supplement Linguagem: Inglês

10.1212/wnl.86.16_supplement.p5.066

1526-632X

Karina Milla‐Neyra, Miguel Inca‐Martinez, Olimpio Ortega-Davila, Victoria Marca, Indira Tirado-Hurtado, Alex Cabrejo-Bravo, Saúl Lindo-Samanamud, Maria Luiza Saraiva Pereira, Pilar Mazzetti Soler, Laura Bannach Jardim, Mario Cornejo‐Olivas,

Genetic Neurodegenerative Diseases

Objective: To describe the clinical and molecular characteristics of DM1 patients followed at a tertiary care center in Peru. Background: Myotonic Dystrophy Type 1 is a multisystemic and pleiotropic neuromuscular disorder caused by an abnormal CTG expansion at the DMPK gene. Outside of Mexico, Brazil and Costa Rica, only a few DM1 cases with accompanying confirmatory diagnosis have been reported in Latin America, likely due to limited access to the molecular diagnosis. Methods: Clinical data was obtained from 72 cases with a clinical diagnosis of DM1 followed from 2009 to 2014 at the Neurogenetics Research Center of the Instituto Nacional de Ciencias Neurologicas in Lima, Peru. Molecular analysis based on PCR and TP-PCR was performed for all cases and 17 of the cases were also confirmed by capillary electrophoresis through the Rede Neurogenetica in Brazil. Results: We confirmed an abnormal CTG expansion within the DMPK gene in 66 out of 72 subjects (91.7[percnt]). Normal alleles ranged from 5 to 29 CTG repeats. In most of the cases, the origin was traced back to either Lima (34.72.5[percnt]) or Southern Peru (30.56[percnt]). The mean age at onset of the disease was 25.8 ±13.4 [3-59]. 64.4[percnt] cases had a positive family history. The main clinical signs observed were weakness (96.88[percnt]), myotonia (96.92[percnt]) and cataracts (31.15[percnt]). Cardiologic manifestations included: AV block (36.96[percnt]), branch block (82.6[percnt]), and cardiomyopathy (33.33[percnt]). Diabetes (7.27[percnt]), hypothyroidism (23.52[percnt]), and hypotestosteronism (50[percnt]) were the main associated endocrine disorders. Conclusions: This is the first DM1 study in a Peruvian population. DM1 cases involved both muscular and systemic manifestations that require a multidisciplinary health care approach. Although the DM1 phenotype is well characterized, molecular diagnosis is necessary to rule out phenocopies and to provide appropriate genetic counseling.