447 - Suspected Diagnosis of Myotonic Dystrophy with Chronic Wide-Spread Pain and Multisystem Involvement: A Case Report

Friday, February 23, 2024

5:00 PM – 6:30 PM EDT

Presenting Author(s)

RC

Richard L. Catabona, Jr., DO

Resident PGY-2
University of California Irvine - Physical Medicine and Rehabilitation
Anaheim, California, United States
DH

David Ho, DO

Resident PGY-2
University of California Irvine - Physical Medicine and Rehabilitation
Orange, California, United States

Co-Author(s)

CY

Clara Yuh, DO

Resident PGY-3
University of California Irvine - Physical Medicine and Rehabilitation
Orange, California, United States
LG

LUIGI P. GONZALES, BS

Medical Student
University of California, Irvine, Department of Physical Medicine and Rehabilitation
Anaheim, California, United States

Corresponding Author(s)

SK

Shahira Khoury, MD

Attending Physician
University of California Irvine - Physical Medicine and Rehabilitation
Orange, California, United States

Case Diagnosis: Suspected Myotonic Dystrophy (DM1)

Case Description: A 39-year-old male with a past medical history of irritable bowel syndrome and depression presented to PM&R clinic for chronic 7/10 neck pain, right hand paresthesia, and chronic 8/10 low back pain of more than 10 years. Further history revealed chronic fecal incontinence with intermittent constipation, worsening obstructive sleep apnea with positional nocturnal dyspnea, and hypersomnia. He was referred for an electromyography (EMG) due to complaints of right hand paresthesia and difficulty with writing. Results were suggestive of Myotonic Dystrophy (DM) with pending confirmatory genetic testing.

Discussions: DM has two major types: DM1 and DM2. DM1 is a genetic disorder characterized by distal muscle weakness, myotonia, cardiopulmonary complaints, and hypersomnia‌. It typically develops through the second and fourth decades.3 The involvement of multiple systems, onset of development, and EMG results in this case suggest DM1 pathology.

DM is frequently unidentified because of its varied organ involvement, affecting smooth muscles in the digestive and respiratory tract.3 Common musculoskeletal symptoms of distal extremity and lower back pain are often documented.1 A primary neuromuscular specialist with expertise in rehabilitative services, evaluation for assistive devices, pain control, and coordination of care with other medical specialists would best manage DM patients.

The overall aim of our study is to raise awareness and report DM as a diagnostic possibility for nonspecific presentations with chronic generalized somatic pain associated with gastrointestinal, respiratory system involvement leading to major depressive disorder and disability.

Conclusions: The clinical phenotype of DM is highly variable and often misdiagnosed given its multisystem involvement. Prompt clinical evaluation is required for suspicion of neuromuscular diseases. Rehabilitation excels in addressing immobility, functional impairment, and pain management that can contribute significantly to enhancing the lives of individuals with DM.