Report of an unusual family of myotonic dystrophy with possible extended approach for genetic counselling: a case report

Author(s): Sarita Agarwal

Abstract

Myotonic Dystrophy Type 1 is caused by an expanded number of CTG repeats in the 3′ UTR of a DMPK gene and has an incidence of ~1 in 7500 adults. It varies in normal population from 5-34 repeats to > 40 repeats in affected individuals. We report the CTG repeat pattern of a DM1 family in which three patients with their asymptomatic or normal family members. The intention of this case report is the diagnosis of a DM1 family and the establishment of TP-PCR methodology and genetic counseling approaches in early screening of affected patient and their family members. Clinical and biochemical testing involve in the initial prediction and diagnosis of the disease which is confirmed by molecular testing. Thus, TP-PCR could be successfully used for the identification of repeat size in DM1 and enable us to prediction of those myotonic cases where presymptomatic and prenatal diagnosis is required.

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