{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:40:22Z","timestamp":1756370422988,"version":"3.44.0"},"reference-count":24,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,10,30]]},"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:p>Ptosis and proximal weakness may develop in multiple diseases including oculopharyngeal muscular dystrophy (OPMD) and myasthenia gravis (MG). These two entities can be challenging to differentiate since they may have important clinical and neurophysiological overlap. Systemic lupus erythematosus (SLE), a common autoimmune disease, has been described in association with MG.<\/jats:p>\n               <jats:p>We present a woman in her 60s with fluctuating bilateral ptosis and proximal muscle weakness. Single fibre electromyography showed increased jitter. Her brother has genetically proven OPMD. The investigation revealed a positive genetic test for OPMD and positive antibodies for acetylcholine receptor. Additionally, she has SLE, treated with hydroxychloroquine for more than 30 years.<\/jats:p>\n               <jats:p>This case highlights the importance of a thoughtful anamnesis with personal and familial history and raises awareness for the rare coexistence of three pathologies with some common clinical characteristics but different treatments and management.<\/jats:p>","DOI":"10.1136\/bcr-2024-262742","type":"journal-article","created":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T13:05:30Z","timestamp":1731416730000},"page":"e262742","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Oculopharyngeal muscular dystrophy, myasthenia gravis, systemic lupus erythematosus: overlap and interactions"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-7457-7116","authenticated-orcid":false,"given":"Joana","family":"M Barbosa","sequence":"first","affiliation":[{"name":"Neurology Department, Centro Hospitalar de Set\u00fabal EPE, Setubal, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1387-6127","authenticated-orcid":false,"given":"Pedro","family":"A Pereira","sequence":"additional","affiliation":[{"name":"Neurology Department, Hospital Garcia de Orta EPE, Almada, Set\u00fabal, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,11,12]]},"reference":[{"key":"2025082801142287000_17.11.e262742.1","doi-asserted-by":"crossref","DOI":"10.3390\/jcm10071375","article-title":"Recent Progress in Oculopharyngeal Muscular Dystrophy","volume":"10","author":"Yamashita","year":"2021","journal-title":"J Clin Med"},{"key":"2025082801142287000_17.11.e262742.2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2010.200378"},{"key":"2025082801142287000_17.11.e262742.3","doi-asserted-by":"crossref","first-page":"e247","DOI":"10.1111\/aos.12243","article-title":"Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing","volume":"92","author":"Mensah","year":"2014","journal-title":"Acta Ophthalmol"},{"key":"2025082801142287000_17.11.e262742.4","first-page":"119","article-title":"Myasthenia gravis. Update on diagnosis and therapy","volume":"161","author":"Garc\u00eda Est\u00e9vez","year":"2023","journal-title":"Med Cl\u00edn (Eng Ed)"},{"key":"2025082801142287000_17.11.e262742.5","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(15)00145-3"},{"key":"2025082801142287000_17.11.e262742.6","doi-asserted-by":"crossref","DOI":"10.3390\/brainsci13091286","article-title":"Diagnosis and Management of Seronegative Myasthenia Gravis: Lights and Shadows","volume":"13","author":"Vinciguerra","year":"2023","journal-title":"Brain Sci"},{"key":"2025082801142287000_17.11.e262742.7","doi-asserted-by":"publisher","DOI":"10.1002\/mus.1140"},{"key":"2025082801142287000_17.11.e262742.8","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1017\/S0317167100049040","article-title":"Usefulness of Single Fiber EMG for Distinguishing Neuromuscular from Other Causes of Ocular Muscle Weakness","volume":"21","author":"Ukachoke","year":"1994","journal-title":"Can J Neurol Sci"},{"key":"2025082801142287000_17.11.e262742.9","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1080\/21548331.2022.2125706","article-title":"Electrophysiologic evaluation of myasthenia gravis and its mimics: real-world experience with single-fiber electromyography","volume":"50","author":"Khoo","year":"2022","journal-title":"Hosp Pract (1995)"},{"key":"2025082801142287000_17.11.e262742.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.cden.2013.06.003"},{"key":"2025082801142287000_17.11.e262742.11","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1007\/s40744-020-00212-9","article-title":"Systemic Lupus Erythematosus (SLE) Therapy: The Old and the New","volume":"7","author":"Basta","year":"2020","journal-title":"Rheumatol Ther"},{"key":"2025082801142287000_17.11.e262742.12","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6335-z"},{"key":"2025082801142287000_17.11.e262742.13","doi-asserted-by":"crossref","first-page":"3481","DOI":"10.1007\/s10072-024-07368-0","article-title":"Comorbidity in myasthenia gravis: multicentric, hospital-based, and controlled study of 178 Italian patients","volume":"45","author":"Di Stefano","year":"2024","journal-title":"Neurol Sci"},{"key":"2025082801142287000_17.11.e262742.14","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1136\/practneurol-2022-003429","article-title":"Oculopharyngeal muscular dystrophy coexisting with myasthenia gravis","volume":"doi","author":"Alungulese","year":"2022","journal-title":"Pract Neurol"},{"key":"2025082801142287000_17.11.e262742.15","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.nmd.2013.01.012","article-title":"Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis","volume":"23","author":"Oskarsson","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"2025082801142287000_17.11.e262742.16","doi-asserted-by":"crossref","unstructured":"Avallone AR , Di Stefano V , Bevilacqua L , et al . AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges. Neurol Sci 2024. doi:10.1007\/s10072-024-07675-6","DOI":"10.1007\/s10072-024-07675-6"},{"key":"2025082801142287000_17.11.e262742.17","doi-asserted-by":"crossref","first-page":"109810","DOI":"10.1016\/j.clim.2023.109810","article-title":"Association between systemic lupus erythematosus and myasthenia gravis: A population-based National Study","volume":"260","author":"Igoe","year":"2024","journal-title":"Clin Immunol"},{"key":"2025082801142287000_17.11.e262742.18","unstructured":"Preston DC , Shapiro BE . Electromyography and neuromuscular disorders: clinical-electrophysiologic-ultrasound correlations. Chapter 38 - myopathy. 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