Clinical and genetic characteristics of childhood-onset myotonic dystrophy
Muscle & Nerve Sep 18, 2019
Stokes M, et al. - Researchers conducted a retrospective chart review of patients with childhood-onset myotonic dystrophy type 1 (DM1) seen at one of three locations in Dallas, TX between 1990 and 2018 to review symptoms, course of the disease, cognitive characteristics and family history. The study sample consisted of 74 patients. Fifty-two patients were diagnosed with congenital DM. Data reported that 74% of patients had a maternal inheritance. The number of CTG repeats varied from 143 to 2,300. It was prevalent to have neuropsychiatric and cognitive deficits. Gastrointestinal disturbances occurred in over half of patients. It was also common to have orthopedic complications. Findings suggested that DM1 in children needs a management approach that is multidisciplinary. Presenting symptoms varies, and repeated size of expansion does not necessarily relate directly to symptom severity. There is a need for a consensus on outcome measures.
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