MYOTONIC DYSTROPHY-2: UNUSUAL PHENOTYPE
DUE TO A SMALL CCTG-EXPANSION Finsterer J, Stöllberger C, Reining-Festa A, Loewe-Grgurin M, Gencik M *Corresponding Author: Josef Finsterer, M.D., Ph.D., Krankenanstalt Rudolfstiftung, Messerli Institute,
Veterinary University of Vienna, Postfach 20, 1180 Vienna, Austria. Tel. +43-1-71165-92085.
Fax. +43-1-4781711. E-mail: fifigs1@yahoo.de page: 39 download article in pdf format
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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.
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