Myotonic Dystrophy 2; Dm2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

Genes related to Myotonic Dystrophy 2; Dm2

CNBP

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Myotonic Dystrophy 2; Dm2

Intellectual disability
Hearing impairment
Muscle weakness
Pain
Cataract
Ptosis
Cognitive impairment
Hypertension
Skeletal muscle atrophy
Tremor

And another 43 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available MYOTONIC DYSTROPHY 2; DM2 have a estimated prevalence of 6.7 per 100k in Europe.
— No data available about the known clinical features onset.

Alternative names

Myotonic Dystrophy 2; Dm2 Is also known as promm, proximal myotonic myopathy, dystrophia myotonica 2, myotonic myopathy, proximal, ricker syndrome.

Researches and researchers

Doctors, researchs, and experts related to Myotonic Dystrophy 2; Dm2 extracted from public data.

Myotonic Dystrophy 2; Dm2 Experts map

Current Researchs and researchers

ILLKIRCH-GRAFFENSTADEN — Dr Nicolas CHARLET-BERGUERAND
Investigator of research project - Coordinator of research network
- Institution/s:
  — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Research area/topic::
  HEART DM: Exploring the mechanisms of heart dysfunctions in myotonic dystrophies

LILLE — Dr Nicolas SERGEANT
Investigator of research project
- Institution/s:
  — INSERM U815 - Centre de Recherche Jean-Pierre Aubert, Faculté de médecine de Lille
- Research area/topic::
  NEUROSPLICEDETAU: Implication and rescue of Tau mis-splicing in myotonique dystrophy

ROMA — Dr Fulvio BELLOCCI
Investigator of research project
- Institution/s:
  — Università Cattolica del Sacro Cuore
- Research area/topic::
  The RAMYD (risk of arrhythmias in Myotonc Dystrophy Type I) study: phase II

LEIDEN — Dr J.A.H. [Just] EEKHOF
Investigator of research project
- Institution/s:
  — LUMC - Leids Universitair Medisch Centrum
- Research area/topic::
  GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.

UTRECHT — Ms F. [Femke] SEESING
Investigator of research project
- Institution/s:
  — Piet van Dommelenhuis
- Research area/topic::
  GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.

BADALONA — Dr Gisela NOGALES GADEA
Investigator of research project
- Institution/s:
  — Área de Neurociencias, Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
- Research area/topic::
  Application of more sensitive techniques of genetic diagnosis, study of phenotypic modulators and prognosis in patients with myotonic dystrophies

NYI UK — Dr Mark HAMILTON
Investigator of research project
- Institution/s:
  — Institution: Information not provided - UK
- Research area/topic::
  Structural CNS changes, neuropsychological impairment and sleep disturbance in myotonic dystrophy

OXFORD — Dr John WOOD
Investigator of research project - Quality manager
- Institution/s:
  — University of Oxford
  — Southampton General Hospital
- Research area/topic::
  Advanced peptide-oligonucleotide therapy for Myotonic Dystrophy Type 1

SOUTHAMPTON — Dr John WOOD
Investigator of research project - Quality manager
- Institution/s:
  — University of Oxford
  — Southampton General Hospital
- Research area/topic::
  Advanced peptide-oligonucleotide therapy for Myotonic Dystrophy Type 1

Myotonic Dystrophy 2; Dm2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CNBP DNA Test (DM2). By Athena Diagnostics Inc (United States). CNBP Specificity 100 % Genes 100 %
Myotonic Syndrome Advanced Evaluation. By Athena Diagnostics Inc (United States). SCN4A, CNBP, CAV3, CLCN1, DMPK, HSPG2, ATP2A1 Specificity 15 % Genes 100 %
Myotonic dystrophy type 2. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). CNBP Specificity 100 % Genes 100 %
ZNF9. CCTG expansion detection by PCR. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CNBP Specificity 100 % Genes 100 %
CNBP. CCTG expansion detection by PCR. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CNBP Specificity 100 % Genes 100 %
Myotonic dystrophy type 2 (CCTG expansion on ZNF9 gene). By CGC Genetics (Portugal). CNBP Specificity 100 % Genes 100 %
Myotonic Dystrophy type 2. By Neuromuscular Research Unit, Neurogenetics University of Tampere (Finland). CNBP Specificity 100 % Genes 100 %
Myotonic Dystrophy Type 2. By MGZ Medical Genetics Center (Germany). CNBP Specificity 100 % Genes 100 %