A DM1 Patient with CCG variant repeats: Reaching the Diagnosis

Myotonic dystrophy type 1 (DM1) is a progressive, multi-system disorder affecting skeletal muscles, the heart, gastrointestinal and uterine smooth muscle, eyes, central nervous and endocrine systems. The genetic basis is a repeat expansion of CTG trinucleotides in the 3 ’-UTR of the dystrophia myotonica protein kinase (DMPK) gene. The expansion varies from 50 to several thousand repeats and inversely correlates with age at symptom onset [1–3]. The repeat tract is characterised by germline expansion, which contributes to genetic anticipation [4], and somatic exp ansion [5–6], which in turn contributes towards disease progression [7].

Source: Neuromuscular Disorders - December 17, 2020 Category: Neurology Authors: Sarah A. Cumming, Agata Oliwa, Gillian Stevens, Bob Ballantyne, Cameron Mann, Saif Razvi, Cheryl Longman, Darren G. Monckton, Maria Elena Farrugia Source Type: research