SHM Converge Scientific Abstract ePoster Gallery-It's Not in His Head: A Presentation of Muscular Dystrophy

Pdf Summary

This case describes a 48-year-old man with a complex psychiatric history who was admitted with sepsis from aspiration pneumonia, chronic dysphagia, and significant unintentional weight loss. Because of his psychiatric symptoms and poor intake, his decline was initially suspected to be due to malignancy or mental illness.<br /><br />Further evaluation revealed neurologic findings more consistent with a neuromuscular disorder: lower-extremity hyperreflexia, upper-extremity hyporeflexia, foot drop, eyelid muscle weakness, and upper-extremity atrophy. CT imaging showed fatty replacement of the paraspinal muscles, which had initially been attributed to poor nutrition, as well as a parathyroid adenoma. The differential diagnosis included myopathy, amyotrophic lateral sclerosis, and cervical spine disease.<br /><br />Electromyography demonstrated findings consistent with myotonic dystrophy type 1, and genetic testing confirmed a pathogenic DMPK CTG repeat expansion with 150 repeats. The patient’s presentation was unusual because myotonic dystrophy is typically diagnosed earlier in life and often has a family history; in this case, psychiatric illness and social isolation obscured the diagnosis.<br /><br />The report emphasizes several teaching points for hospitalists: maintain broad differentials, perform thorough physical exams, and recognize that imaging findings such as fatty muscle replacement may suggest underlying neuromuscular disease. It also notes that parathyroid adenomas can be associated with myotonic dystrophy. Despite diagnosis, the disease course was severe and ultimately led to progressive weakness and respiratory failure, a common cause of death in advanced myotonic dystrophy.

Asset Subtitle

Aditi Sharma

Meta Tag

Author List Aditi Sharma, Lara Voigt

Category Clinical Vignettes

Concept Myotonic Dystrophy

Concept CTG Repeat Expansion

Concept Distal Muscle Weakness

Concept Myotonia

Concept Differential Diagnosis

Distinguished Non-Finalist

Presenter Organization UT Health San Antonio

Presenting Author Aditi Sharma

Track Adult

Keywords

myotonic dystrophy type 1

DMPK CTG repeat expansion

aspiration pneumonia

dysphagia

weight loss

neuromuscular disorder

fatty muscle replacement

electromyography

parathyroid adenoma

respiratory failure

Myotonic Dystrophy

CTG Repeat Expansion

Distal Muscle Weakness

Myotonia

Differential Diagnosis