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Case 39 - Myotonic Dystrophy Type 1 (DM1)

from Myopathies

Published online by Cambridge University Press:  29 November 2024

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 54-year-old man was referred by his GP. He had lived with his mother until her death when he was 47 years old. He then moved into an assisted living facility. His father had died in his early 30s in a car accident. A sister was said to have died of a muscle disease and a brother had reportedly died of a heart attack at age 35 years. A niece from his father’s side was also reported to have a muscle disease. Apart from having difficulties opening his hands since childhood (upon request) he had had no complaints until his late thirties, when he experienced muscle weakness. This hampered him during his full-time work as a groundskeeper in public gardens, but he continued working. Two months ago, however, he had to give up this job because of severe fatigue and increasing generalized weakness.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 182 - 184
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Ashizawa, T, Gagnon, C, Groh, WJ, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract 2018;8(6):507520. doi: 10.1212/CPJ.0000000000000531. PMID: 30588381; PMCID: PMC6294540.CrossRefGoogle ScholarPubMed
Bird, TD. Myotonic dystrophy type 1. 1999 Sep 17 [updated 2021 Mar 25]. In Adam, MP, Mirzaa, GM, Pagon, RA, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2023. PMID: 20301344Google Scholar
Wahbi, K, Furling, D. Cardiovascular manifestations of myotonic dystrophy. Trends Cardiovasc Med 2020;30(4):232238. doi: 10.1016/j.tcm.2019.06.001. Epub 2019 Jun 13. PMID: 31213350.CrossRefGoogle ScholarPubMed

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