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Myotonic Dystrophy Type 2 - Data from the Serbian Registry.

Ivo Bozovic1, Stojan Peric1, Jovan Pesovic2

  • 1Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.

Journal of Neuromuscular Diseases
|September 25, 2018
PubMed
Summary

Myotonic dystrophy type 2 (DM2) is a multisystem disorder. This Serbian registry study details DM2 patient demographics, symptoms like limb weakness and pain, and associated conditions such as cataracts and diabetes.

Keywords:
Myotonic dystrophy type 2cardiac conduction defectscataractsgenderregistry

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Area of Science:

  • Neurology
  • Genetics
  • Epidemiology

Background:

  • Myotonic dystrophy type 2 (DM2) is a multisystem disorder with a heterogeneous symptom spectrum.
  • Understanding the full clinical presentation of DM2 is crucial for patient management.

Purpose of the Study:

  • To establish a comprehensive registry of DM2 patients in Serbia.
  • To collect detailed sociodemographic, clinical, and laboratory data from a large DM2 cohort.

Main Methods:

  • Prospective data collection started in 2008, with retrospective data from 1990-2008.
  • The registry included 87 genetically confirmed DM2 patients by the end of 2017.
  • Data encompassed demographics, symptoms, diagnostic delay, and comorbidities.

Main Results:

  • The prevalence was 1.2 registered cases per 100,000 inhabitants, with females being more prevalent (63%).
  • Common symptoms included lower limb weakness, myotonia, and limb pain; cataracts (75%) and diabetes (17%) were frequent.
  • Diagnostic delay averaged 11.8 years; specific symptoms and comorbidities differed between sexes.

Conclusions:

  • The Serbian DM2 registry provides a detailed overview of the disease in this population.
  • This data can aid in earlier diagnosis and improved treatment strategies for DM2 patients.