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Case 40 - Myotonic Dystrophy Type 2 (DM2)
from Myopathies
Jessica E. Hoogendijk, University Medical Center Utrecht, Marianne de Visser, Amsterdam University Medical Center, Pieter A. van Doorn, Erasmus MC, University Medical Center, Rotterdam, Erik H. Niks, Leiden University Medical Center
Book:

Neuromuscular Disease

Published online:

29 November 2024

Print publication:

19 December 2024, pp 185-186
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Summary

A 60-year-old woman was referred because from the age of 50 years onwards she experienced muscle weakness that led to increasing difficulty in climbing stairs. In addition, she complained about exercise-induced myalgia.
History included cataract surgery at the age of 58 years, and lately, unexpected and unexplained falls. Family history revealed early-onset cataract in several paternal family members. Her father and brother had died suddenly and unexpectedly despite a pacemaker.