Hereditary Inclusion Body Myopathy-joint Contractures-ophthalmoplegia Syndrome

Description

Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Inclusion Body Myopathy-joint Contractures-ophthalmoplegia Syndrome

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • High palate
  • Skeletal muscle atrophy
  • Respiratory distress
  • Myopathy
  • Proximal muscle weakness

And another 19 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.

Alternative names

Hereditary Inclusion Body Myopathy-joint Contractures-ophthalmoplegia Syndrome Is also known as inclusion body myopathy type 3, ibm3, myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles, hibm3, inclusion body myopathy 3, autosomal dominant, formerly, ibm3, formerly, mypop, hereditary inclusion body myopathy type 3.

Researches and researchers

Doctors, researchs, and experts related to Hereditary Inclusion Body Myopathy-joint Contractures-ophthalmoplegia Syndrome extracted from public data.

Hereditary Inclusion Body Myopathy-joint Contractures-ophthalmoplegia Syndrome Experts map



Current Researchs and researchers

  • GÖTEBORG — Pr Homa TAJSHARGHI

    Investigator of research project

    • Institution/s:
      — Institute of Biomedicine, Göteborg University
    • Research area/topic::

      Molecular and functional studies of neuromuscular disorders related to the sarcomeric proteins



Mendelian

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Hereditary Inclusion Body Myopathy-joint Contractures-ophthalmoplegia Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7 , (...)

View the complete list with 1 more genes
Specificity
5 %
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 %
Congenital Contractures Panel.

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

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
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 %
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 %
Inclusion Body Myopathy and Autosomal Recessive, Early Onset Myopathy via MYH2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

MYH2
Specificity
100 %
Genes
100 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center (Germany).

RYR1, BIN1, SCN4A, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A3, SLC25A4, SLC6A5, SNAP25, STIM1, TAZ, TWNK, TCAP, TIA1, TK2 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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