Myotonic dystrophy presenting as dementia

摘要

Introduction Myotonic Dystrophy (MD) is the most common inherited neuromuscular disease with a worldwide prevalence of 2.1 to 14.3 per 100 000 inhabitants and incidence of 1 in 8000 births [1]. MD exhibits anticipation and variable expression from generation to another. It is a multi-system disorder affecting muscles, central nervous system, eye, endocrine system, gastrointestinal system, and most importantly heart. Features that allow early diagnosis are myotonia and muscle weakness. However, the diagnosis can be under recognized when only cataract and or dementia are the only presenting features. Increased awareness is important as prompt diagnosis allows prevention of complications, detection of other family members and genetic counseling.