Myotonic Dystrophy 2; Dm2

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).

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



Mendelian

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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 %

We have 12 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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