European Journal of Rheumatology
Case-Based Review

A challenging etiology of myopathy: The late-onset Pompe disease

1.

Department of Rheumatology, Dokuz Eylül University School of Medicine, İzmir, Turkey

2.

Department of Rheumatology, Dokuz Eylül University School of Medicine, İzmir, Turkey

3.

Division of Pediatric Metabolism and Nutrition, Dokuz Eylül University School of Medicine, İzmir, Turkey

4.

Department of Pathology, Dokuz Eylül University School of Medicine, İzmir, Turkey

Eur J Rheumatol 2023; 10: 26-28
DOI: 10.5152/eurjrheum.2022.21156
Read: 670 Downloads: 328 Published: 06 April 2022

Pompe disease is a rare metabolic disorder that is characterized by the deficiency of the acid aglucosidase. As a result, glycogen accumulates in several tissues including motor neurons, skeletal, cardiac, and smooth muscles. The course of the disease varies according to the type of mutations, and the clinical phenotype can be affected by the enzyme levels. Late-onset Pompe disease (LOPD) is a challenging issue for clinicians as it has a milder phenotype with later onset of symptoms and slower disease progression. One of the most important differentials in the diagnosis of LOPD is inflammatory myositis as both diseases have some common clinical and laboratory features. Herein, we presented a 30-year-old female patient initially diagnosed as polymyositis and treated with immunosuppressive therapy without a benefit on her symptoms and later diagnosed as LOPD.

Cite this article as: Yüce İnel T, Köken Avşar A, Teke Kısa P, Özer E, Sarı İ. A chal-lenging etiology of myopathy: The late-onset Pompe disease. Eur J Rheumatol. 2023;10(1): 26-28.

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