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Balkan J Med Genet. 2018 Dec 31;21(2):39-43. doi: 10.2478/bjmg-2018-0024. eCollection 2018 Dec.

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

J F1, C S2, A RF3, M LG4, M G5.

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Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Vienna Austria.
Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria.
Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.
Radiological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.
Laboratory for Human Genetics, Vienna, Austria.


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.


Cardiac involvement; Creatine kinase (hyper-CKemia); Multisystem disease; Myotonia; Neuromuscular; ZNF9 gene

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