Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia
| العنوان: | Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia |
|---|---|
| المؤلفون: | Martina Witsch-Baumgartner, Georg Safoschnik, Josef Finsterer |
| المصدر: | SAGE Open Medical Case Reports, Vol 5 (2017) SAGE Open Medical Case Reports |
| بيانات النشر: | SAGE Publishing, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, Pathology, medicine.medical_specialty, Myotonic dystrophy, Myotonic dystrophy type 2, Case Report, Physical exercise, ZNF9, Proximal myotonic myopathy, 03 medical and health sciences, 0302 clinical medicine, CCTG-expansion, physical exercise, medicine, lcsh:R5-920, Leukopenia, business.industry, General Medicine, Myotonia, medicine.disease, myotonia, 030104 developmental biology, CNBP gene, medicine.symptom, sport, business, lcsh:Medicine (General), 030217 neurology & neurosurgery |
| الوصف: | Objectives: A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. Methods: Case report. Results: The patient is a 54-year-old female sport teacher who developed myotonia of the distal upper limbs at the age of 32 years. Over the following 22 years, myotonia spreaded to the entire musculature. Myotonia did not prevent her from doing her job and from marathoning and improved with continuous exercise. Additionally, she had developed hypothyroidism, ovarial cysts, incipient cataract, motor neuropathy, hepatopathy, leukopenia, and mild hyper-CK-emia. A heterozygous CCTG-repeat expansion of 500–9500 was found in the CNBP/ZNF9 gene. At the age of 54 years, she was still performing sport, without presenting with myotonia on clinical examination or having developed other typical manifestations of proximal myotonic myopathy. Conclusions: This case shows that proximal myotonic myopathy may take a mild course over at least 22 years, that proximal myotonic myopathy with mild myotonia may allow a patient to continue strenuous sport activity, and that continuous physical activity may contribute to the mild course of the disease. |
| اللغة: | English |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::171d4e73dce78cb1daf54dcdf9bcc929 https://doaj.org/article/48994d8044b4465fbd380fc4f8398054 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....171d4e73dce78cb1daf54dcdf9bcc929 |
| قاعدة البيانات: | OpenAIRE |
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