Atypical Late Onset Limb Girdle Muscular Dystrophy Case Report
Author Information
Author(s): Schofer Markus Dietmar, Patzer Thilo, Quante Markus
Primary Institution: University Hospital Marburg, Germany
Hypothesis
Can late onset limb girdle muscular dystrophy present atypically in middle-aged patients?
Conclusion
This case highlights the importance of considering late onset muscular dystrophy in elderly patients with unexplained muscle atrophy and falls.
Supporting Evidence
- The patient showed marked muscle atrophy and a rotator cuff tear.
- Previous treatments for shoulder pain and dysfunction were ineffective.
- Immunohistochemistry revealed a mild form of limb girdle muscular dystrophy.
Takeaway
A 54-year-old woman had muscle weakness and falls, which turned out to be a rare type of muscle disease that is often missed in older people.
Methodology
The case was diagnosed through clinical evaluation, MRI, serum creatine kinase measurement, and muscle biopsy.
Potential Biases
Potential bias in diagnosis due to atypical presentation and previous misattribution of symptoms.
Limitations
The study is based on a single case, limiting generalizability.
Participant Demographics
54-year-old Caucasian woman.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website