Emery-dreifuss Muscular Dystrophy 7, Autosomal Dominant; Edmd7

Description

Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).For a discussion of genetic heterogeneity of EDMD, see {310300}.

Clinical Features

Top most frequent phenotypes and symptoms related to Emery-dreifuss Muscular Dystrophy 7, Autosomal Dominant; Edmd7

  • Muscle weakness
  • Flexion contracture
  • Cardiomyopathy
  • Arrhythmia
  • Proximal muscle weakness
  • Muscular dystrophy
  • Atrial fibrillation
  • Progressive muscle weakness
  • Bradycardia
  • Neck muscle weakness

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Emery-dreifuss Muscular Dystrophy 7, Autosomal Dominant; Edmd7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SYNE2, SYNE1, TMEM43, EMD, FHL1, LMNA
Specificity
17 %
Genes
100 %
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Test for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

TMEM43
Specificity
100 %
Genes
100 %
ARVC panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

TMEM43, DSC2, DSG2, DSP, PKP2
Specificity
20 %
Genes
100 %
Arrhythmogenic right ventricular cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

RYR2, TMEM43, DSC2, DSG2, DSP, JUP, PKP2
Specificity
15 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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