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A 52-Year-Old Female with Weakness and Droopy Eyelids 

A 52-Year-Old Female with Weakness and Droopy Eyelids
Chapter:
A 52-Year-Old Female with Weakness and Droopy Eyelids
Author(s):

Jeffrey A. Cohen

, Justin J. Mowchun

, Victoria H. Lawson

, and Nathaniel M. Robbins

DOI:
10.1093/med/9780190491901.003.0024
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date: 17 June 2021

Myotonic dystrophy type 1 affects multiple organ systems and is associated with cardiac, endocrine, and ophthalmological disorders. Executive dysfunction can lead to missed appointments and an apathetic attitude, causing patients to underestimate symptoms. The findings of both clinical and electrical myotonia should suggest myotonia congenita, DM1, or DM2. Myotonic dystrophy demonstrates anticipation, where the disease has an earlier onset and more severe course with subsequent generations due to increasing trinucleotide repeats. Therefore, the diagnosis can be heralded in an adult by his/her affected child. Management of the disorder is supportive, addressing issues relating to loss of strength, cardiac conduction defects, endocrinopathies (regular monitoring with glycosylated hemoglobin and thyroid-stimulating hormone). Diagnosis and management of this disorder is discussed.

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