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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
McArdle disease: a case report and review
Alberto Leite1, Narciso Oliveira, Manuela Rocha
1Internal Medicine Department, Hospital de Braga, Portugal.
International Medical Case Reports Journal
|June 12, 2013
Summary
McArdle disease, a rare genetic myopathy, causes exercise intolerance due to myophosphorylase deficiency. A 54-year-old man
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- McArdle disease (glycogen storage disease type V) is a rare inherited myopathy resulting from a deficiency in myophosphorylase.
- It typically presents with exercise intolerance, fatigue, muscle contractures, and potentially rhabdomyolysis.
Observation:
- A 54-year-old male patient reported lifelong exertional fatigability.
- Elevated creatine kinase, lactate dehydrogenase, and myoglobin levels were observed.
- Muscle biopsy confirmed McArdle disease.
Findings:
- The patient experienced a 40-year delay in diagnosis due to embarrassment surrounding his symptoms.
- Diagnosis led to significant patient relief and improved quality of life.
Implications:
- Highlights the importance of recognizing and diagnosing rare metabolic myopathies like McArdle disease.
- Emphasizes the psychological burden and delayed diagnosis in patients with rare genetic disorders.
- Underscores the 'liberating' effect of accurate diagnosis and management for patients with chronic conditions.
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