Emery-dreifuss Muscular Dystrophy 1, X-linked; Edmd1

Description

Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Emery-dreifuss Muscular Dystrophy 1, X-linked; Edmd1

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis
  • Flexion contracture
  • Skeletal muscle atrophy
  • Gait disturbance
  • Cardiomyopathy
  • Myopathy

And another 50 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 EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 have a estimated prevalence of 0.3 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Emery-dreifuss Muscular Dystrophy 1, X-linked; Edmd1 Is also known as emd1, scapuloperoneal syndrome, x-linked, formerly, humeroperoneal neuromuscular disease, formerly, muscular dystrophy, tardive, dreifuss-emery type, with contractures.

Researches and researchers

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Emery-dreifuss Muscular Dystrophy 1, X-linked; Edmd1 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 %
Dilated cardiomyopathy - full panel.

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

SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Dilated cardiomyopathy - familial variant analysis.

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

SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Pan-cardiomyopathy panel.

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

RYR2, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, ACTC1, CASQ2, CAV3, LDB3, ANKRD1, MYLK2, ACTN2, CRYAB , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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