Abstract
Fasiyo-skapulo-humeral musküler distrofi yüz, skapular, üst kol, alt bacak ve kalça kuşağı kaslarını içeren, genellikle asimetrik tutulumla birlikte yavaş ilerleyen kas zayıflığı ile karakterize bir genetik bozukluktur. Semptomatik olanlarda her zaman olmasa da sıklıkla en fazla 5 kata kadar kreatinin kinaz seviyesi yükselir. Elektromiyografi miyopatik özellikler gösterir. Kas biyopsisinde nonspesifik miyopatik değişiklikler izlenir. Tanıda deltoidlerin göreceli olarak korunduğu yüz, omuz kuşağı ve üst kol zayıflığı ile başvuran hastalarda şüphelenilmelidir. Genetik analiz tanıda temel yöntemdir. Özellikle tedaviye yanıtsız dermatomiyozit hastalarında tanı tekrar gözden geçirilmeli, özellikle asimetrik ve distal kas güçsüzlüğünün olduğu hastalarda dermatomiyozit tanısından uzaklaşılmalı, yüz ve skapular kas güçsüzlüğünün eşlik ettiği hastalarda akla Fasiyo-skapulo-humeral musküler distrofi gelmelidir.
References
- Wagner KR. Facioscapulohumeral Muscular Dystrophies. Continuum (Minneap Minn). 2019;25(6):1662-81.
- Deenen JC, Arnts H, van der Maarel SM, et al. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology. 2014;83(12):1056-9.
- Wang LH, Tawil R. Facioscapulohumeral Dystrophy. Curr Neurol Neurosci Rep. 2016;16(7):66.
- Baig S, Paik JJ. Inflammatory muscle disease - An update. Best Pract Res Clin Rheumatol. 2020; 34(1):101484.
- Mammen AL. Which nonautoimmune myopathies are most frequently misdiagnosed as myositis? Curr Opin Rheumatol. 2017;29(6):618-22. Preston MK, Tawil R, Wang LH. Facioscapulohumeral Muscular Dystrophy. GeneReviews [serial on the Internet]. 1993-2023. [cited 4 Aug 2023]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1443/
- Statland JM, Shah B, Henderson D, et al. Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies. Muscle Nerve. 2015;52(4):521-6.
- Lemmers RJ, O'Shea S, Padberg GW, et al. Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands. Neuromuscul Disord. 2012;22(5):463-70.
- Baig S, Paik JJ. Inflammatory muscle disease - An update. Best Pract Res Clin Rheumatol. 2020;34(1):101484.
- Moghadam-Kia S, Oddis CV. Current and new targets for treating myositis. Curr Opin Pharmacol. 2022;65:102257.
Abstract
Fascio-scapulo-humeral muscular dystrophy is a genetic disorder characterized by slowly progressive asymmetric muscle weakness involving the facial, scapular, upper arm, lower leg, and hip muscles. In symptomatic patients, creatinine kinase level is frequently, but not always, elevated up to a maximum of 5 times. Electromyography shows myopathic features. Muscle biopsy reveals nonspecific myopathic changes. It should be suspected for diagnosis in patients presenting with facial, shoulder girdle and upper arm weakness in which the deltoids are relatively spared. Genetic analysis is the basic method in diagnosis. The diagnosis should be reconsidered especially in patients with dermatomyositis unresponsive to treatment, with asymmetric and distal muscle weakness. Fascio-scapulo-humeral muscular dystrophy should be considered in patients with facial and scapular muscle weakness.
References
- Wagner KR. Facioscapulohumeral Muscular Dystrophies. Continuum (Minneap Minn). 2019;25(6):1662-81.
- Deenen JC, Arnts H, van der Maarel SM, et al. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology. 2014;83(12):1056-9.
- Wang LH, Tawil R. Facioscapulohumeral Dystrophy. Curr Neurol Neurosci Rep. 2016;16(7):66.
- Baig S, Paik JJ. Inflammatory muscle disease - An update. Best Pract Res Clin Rheumatol. 2020; 34(1):101484.
- Mammen AL. Which nonautoimmune myopathies are most frequently misdiagnosed as myositis? Curr Opin Rheumatol. 2017;29(6):618-22. Preston MK, Tawil R, Wang LH. Facioscapulohumeral Muscular Dystrophy. GeneReviews [serial on the Internet]. 1993-2023. [cited 4 Aug 2023]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1443/
- Statland JM, Shah B, Henderson D, et al. Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies. Muscle Nerve. 2015;52(4):521-6.
- Lemmers RJ, O'Shea S, Padberg GW, et al. Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands. Neuromuscul Disord. 2012;22(5):463-70.
- Baig S, Paik JJ. Inflammatory muscle disease - An update. Best Pract Res Clin Rheumatol. 2020;34(1):101484.
- Moghadam-Kia S, Oddis CV. Current and new targets for treating myositis. Curr Opin Pharmacol. 2022;65:102257.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Rheumatology and Arthritis |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | March 19, 2024 |
| Submission Date | June 6, 2023 |
| Published in Issue | Year 2024Volume: 63 Issue: 1 |
