دورية أكاديمية
أعرض في EDS

Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion.

التفاصيل البيبلوغرافية
العنوان: Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion.
المؤلفون: J F; Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Vienna Austria., C S; Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria., A RF; Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria., M LG; Radiological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria., M G; Laboratory for Human Genetics, Vienna, Austria.
المصدر: Balkan journal of medical genetics : BJMG [Balkan J Med Genet] 2018 Dec 31; Vol. 21 (2), pp. 39-43. Date of Electronic Publication: 2018 Dec 31 (Print Publication: 2018).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Sciendo Country of Publication: Poland NLM ID: 9806959 Publication Model: eCollection Cited Medium: Print ISSN: 1311-0160 (Print) Linking ISSN: 13110160 NLM ISO Abbreviation: Balkan J Med Genet Subsets: PubMed not MEDLINE
أسماء مطبوعة: Publication: [Warsaw, Poland] : Sciendo
Original Publication: Sofia, Bulgaria : DL&M Ltd., [1998-2001]
مستخلص: Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association with hyperlipidemia and diabetes, as a manifestation of MD2 has not been reported. A 52-year-old female with a history of hyper-CKemia since the age of 32 years associated with diabetes, hyperlipidemia and hyperuricemia, developed anginal chest pain and proximal muscle weakness together with clinical myotonia when opening the fists at age 51 years. Examination revealed a left anterior hemiblock, sensorimotor neuropathy, extensive myotonic discharges on needle electromyography (EMG) and a CCTG-expansion of 134 bp on the ZNF9 gene. The family history was positive for hyper-CKemia and muscle weakness. In addition, over the previous years, she had developed vesico-ureteral reflux, cutaneous melanoma, renal cysts, cervix dysplasias, thrombocytosis, cataracts, arterial hypertension, heterozygous Factor V Leiden mutation, cholecystolithiasis, multiple ovarial cysts and vitamin D deficiency. Asymptomatic, long-term hyper-CKemia in association with multisystem disease should raise the suspicion of a MD2. Rare manifestations of MD2 may be thrombocytosis, hyperuricemia, vesico-ureteral reflux, gallstones, hypertension and cyst formation. In patients with asymptomatic hyper-CKemia, needle EMG should be considered. Myotonic dystrophy type 2 may take a mild course over many years if the CCTG-expansion is short.
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فهرسة مساهمة: Keywords: Cardiac involvement; Creatine kinase (hyper-CKemia); Multisystem disease; Myotonia; Neuromuscular; ZNF9 gene
تواريخ الأحداث: Date Created: 20190416 Latest Revision: 20200929
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC6454246
DOI: 10.2478/bjmg-2018-0024
PMID: 30984523
قاعدة البيانات: MEDLINE
الوصف
تدمد:1311-0160
DOI:10.2478/bjmg-2018-0024