Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

1Citations
Citations of this article
20Readers
Mendeley users who have this article in their library.

Abstract

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.

References Powered by Scopus

Increased cancer risks in myotonic dystrophy

77Citations
N/AReaders
Get full text

Myotonic dystrophies: State of the art of new therapeutic developments for the CNS

72Citations
N/AReaders
Get full text

Increasing risk of tumors in myotonic dystrophy type 1

24Citations
N/AReaders
Get full text

Cited by Powered by Scopus

Endometriosis as Initial Manifestation of Myotonic Dystrophy Type-2

0Citations
N/AReaders
Get full text

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Cite

CITATION STYLE

APA

Finsterer, J., Stollberger, C., Reining-Festa, A., Loewe-Grgurin, M., & Gencik, M. (2018). Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion. Balkan Journal of Medical Genetics, 21(2), 39–44. https://doi.org/10.2478/bjmg-2018-0024

Readers over time

‘19‘20‘21‘22‘23036912

Readers' Seniority

Tooltip

Researcher 4

50%

PhD / Post grad / Masters / Doc 2

25%

Professor / Associate Prof. 1

13%

Lecturer / Post doc 1

13%

Readers' Discipline

Tooltip

Medicine and Dentistry 6

60%

Agricultural and Biological Sciences 2

20%

Pharmacology, Toxicology and Pharmaceut... 1

10%

Neuroscience 1

10%

Save time finding and organizing research with Mendeley

Sign up for free
0