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Case 40 - Myotonic Dystrophy Type 2 (DM2)

from Myopathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk ,
Marianne de Visser ,
Pieter A. van Doorn  and
Erik H. Niks
Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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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.

Keywords

muscle weaknessproximalsymmetricmyalgiamyotoniacardiac involvementsudden deathcataractautosomal dominanttrinucleotide repeatmyotonic dystrophy type 2DM2PROMM
Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
 , pp. 185 - 186
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Meola, G. Myotonic dystrophy type 2: the 2020 update. Acta Myol 2020;39(4):222–234. doi: 10.36185/2532-1900-026. PMID: 33458578; PMCID: MC7783423.Google ScholarPubMed
Schoser, B, Montagnese, F, Bassez, G, et al.; Myotonic Dystrophy Foundation. Consensus-based care recommendations for adults with myotonic dystrophy type 2. Neurol Clin Pract 2019;9(4):343–353. doi: 10.1212/CPJ.0000000000000645. PMID: 31583190; PMCID: PMC6745739.CrossRefGoogle ScholarPubMed
Wenninger, S, Montagnese, F, Schoser, B. Core clinical phenotypes in myotonic dystrophies. Front Neurol 2018;9:303. doi: 10.3389/fneur.2018.00303. PMID: 29770119; PMCID: PMC5941986.CrossRefGoogle ScholarPubMed

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