{ event: "article_read", name: `Prevalence of LOPD in patients with undifferentiated proximal myopathy and undiagnosed muscle biopsy`, author: ``, tags: `Rare Diseases | Rare Diseases`, publication_date: ``, interaction_type: "content" }
Prevalence of LOPD in patients with undifferentiated proximal myopathy and undiagnosed muscle biopsy
Study objective and method
Results
Baseline characteristics of patients with unclassified LGMW
Clinical and laboratory data of patients with unclassified LGMW
Diagnostic yield of LOPD: 2/69 (2.9%)
Patient 1
Patient 2
A 22-year–old Caucasian female with the chief complaint of muscular exertion intolerance associated with muscle aches and cramps.
Patient profile
A 29-year–old Caucasian male with atrophies of the shoulder, pelvic girdle, and paravertebral muscles. Predominantly left-sided scapula alata and positive Gower’s sign.
Completely unspecific myopathic changes with evidence of small lipid droplets
Muscle biopsy
Suspicious changes associated with Pompe disease
Vacuolated muscle fibers
Glycogen storage with enhanced lysosomal activity
No signs of HCM, FVC: <80%
Other findings
No signs of HCM, FVC: 72%
LOPD not only demonstrates wide variability in the clinical phenotype but also in the histopathological changes in the skeletal muscles.
Conclusion
Revisiting muscle biopsies is important in neuromuscular disease diagnosis.
Muscle biopsy can aid in LOPD identification, but glycogen-related vacuolation can be absent.
An inconclusive muscle biopsy does not rule out Pompe disease.
DBS evaluation should precede muscle biopsy for all LGMW patients
Golsari A, Nasimzadah A, Thomalla G, et al. Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy. Neuromuscul Disord. 2018;28(3):257–261.
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