Emery-dreifuss Muscular Dystrophy 5, Autosomal Dominant; Edmd5

Clinical Features

Top most frequent phenotypes and symptoms related to Emery-dreifuss Muscular Dystrophy 5, Autosomal Dominant; Edmd5

  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Cardiomyopathy
  • Congestive heart failure
  • Arrhythmia
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Muscular dystrophy
  • Dilated cardiomyopathy

And another 5 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Emery-dreifuss Muscular Dystrophy 5, Autosomal Dominant; Edmd5 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 %
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 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Limb-Girdle Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, COL6A1, COL6A2, COL6A3, GNE , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago (United States).

RYR1, SELENON, SYNE2, SYNE1, COL6A1, COL6A2, COL6A3, TMEM43, KLHL40, EMD, LAMA2, LMNA, MYH7
Specificity
8 %
Genes
100 %
Congenital Myopathy with Prominent Contractures Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RYR1, SELENON, SYNE2, SYNE1, COL6A1, COL6A2, COL6A3, TMEM43, KLHL40, EMD, LAMA2, LMNA, MYH7
Specificity
8 %
Genes
100 %

We have 22 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like METHYLMALONIC ACIDURIA, cblB TYPE EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC KENNEDY DISEASE AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1; AAA1 GAUCHER DISEASE, PERINATAL LETHAL EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6 LARON SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more