Myotonic dystrophy 1 (MD1) is caused by a CTG expansion in the 3'-unstranslated region of the myotonic dystrophy protein kinase (DMPK) gene. MD1 patients frequently present insulin resistance and increased visceral adiposity. We examined whether DMPK deficiency is a genetic risk factor for high-fat diet-induced adiposity and insulin resistance using the DMPK knockout mouse model. We found that ...

EDITOR—Myotonic dystrophy is the most common muscular dystrophy of adult life, with a frequency of around 3-15 per 100 000 in most European populations. It is characterised by multisystemic involvement and extreme intraand interfamilial variability in age at onset and degree of severity, which may range from subjects with cataract alone to severely aVected infants with neonatal hypotonia, respi...

PURPOSE Low intraocular pressure (IOP) measured by Goldmann applanation tonometry (GAT) is one of the ocular manifestations of Steinert's myotonic dystrophy. The goal of this study was to evaluate the corneal-compensated IOP as well as corneal properties (central corneal thickness and corneal hysteresis) in patients with myotonic dystrophy. METHODS A total of 12 eyes of 6 patients with Steine...

Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder with proximal weakness, muscle pain, and early-onset cataracts. In comparison with myotonic dystrophy type 1 (DM1), myotonia is less symptomatic, more proximal, and harder to detect during clinical and electrodiagnostic testing. Here we document the presence of trapezius myotonia in patients with DM2 (video on the Neurology® Web ...

Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. DM is a multisystem disease with major cardiac involvement. Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, and cardiac conduction abnormalities. Classical DM (first described by Steinert and called Steinert’s disease or DM1) has been identified as an ...

We describe two cases of endometrial cancer (EC) occurring in nulligravid twin sisters with myotonic dystrophy. Both tested negative for Lynch syndrome and both were treated with laparoscopic hysterectomy with bilateral salpingooophorectomy and adjuvant radiotherapy. Although EC tends to run in families, the diagnosis in itself is not considered sufficient cause for screening or prophylactic me...

Four patients with hyperparathyroidism associated with myotonic dystrophy have been identified. All were females aged between 2 and 45 years. They were from three separate families, with two related patients being mother and daughter. In addition, one patient had medullary carcinoma of the thyroid and was diagnosed as having multiple endocrine adenomatosis, type 2A; another had an unspecified t...