Molecular diagnosis of Myotonic Dystrophy (DM) in Costa Rica
DOI:
https://doi.org/10.51481/amc.v43i4.75Keywords:
Distrofia miotónica, mutaciones inestables, anticipación genética, Costa Rica, Hibridación de Southern, PCR, PROMM, consejo genéticoAbstract
Myotonic dystrophy (MD) is a multisystemic disease with an autosomal dominant inheritance. The genetic defect is an unstable mutation due to the expansion of the triplet CTG in the 3' unstranslated region (3' UTR) of the DMPK gene on chromosome 19q13.3. The objective of this work was to implement the molecular diagnosis of the disease in order to improve the clinical management and the genetic counseling of fered to patients and their families. This study was based in those patients with clinical diagnosis of DM and their rela-tives. Two technical diagnostic procedures were used, Sout-hern blot and PCR for confirming the clinical diagnosis. We studied 84 members from 21 different families, obtaining the following results: 21 asymptomatic individuals without the mutation (normal), 34 have the mutation (4 of them are still asymptomatic) and 29 patients in 8 families with a previous clinical diagnosis of DM do not have the DM mutation. The size of the mutation is positively correlated with severity of the symptoms. Those cases with no DM mutation probably correspond to other mutations, such as PROMM/DM2 or other inherited myotonies. Molecular diagnosis must be used as a tool for propering a clinical classification of the patients. The adequate clinical approach, since there is no treatment so far, should include, besides a multydisciplinary clinical mana-gement, prevention through genetic counseling based on the exact molecular diagnosis of the carriers.
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