Bethlem Myopathy 1; Bthlm1

Clinical Features

Top most frequent phenotypes and symptoms related to Bethlem Myopathy 1; Bthlm1

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Abnormality of the skeletal system
  • Respiratory distress
  • Cardiomyopathy

And another 34 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

Bethlem Myopathy 1; Bthlm1 Is also known as muscular dystrophy, benign congenital, bethlem myopathy, myopathy, benign congenital, with contractures.

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

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Bethlem Myopathy 1; Bthlm1 Recommended genes panels

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

By Athena Diagnostics Inc (United States).

TCAP, RXYLT1, B4GAT1, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, POMGNT2, B3GALNT2, DNM2, DPM2, FKTN, FHL1, ISPD, ITGA7, LAMA2 , (...)

View the complete list with 3 more genes
Specificity
14 %
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
3 %
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
4 %
Genes
100 %
Congenital Muscular Dystrophy.

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

RYR1, TCAP, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, DAG1, DPM1, DPM3, FKTN, ISPD, ITGA7, LAMA2, LARGE1, LMNA, POMT1
Specificity
15 %
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
9 %
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
3 %
Genes
100 %
Congenital Muscular Dystrophy Deletion/Duplication Analysis.

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

RYR1, RXYLT1, SELENON, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, TRAPPC11, POMGNT2, POMK, DAG1, B3GALNT2, DPM2, DPM3, FKTN, ISPD , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
100 %
Congenital Muscular Dystrophy Sequencing Panel.

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

RYR1, RXYLT1, SELENON, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, TRAPPC11, POMGNT2, POMK, DAG1, B3GALNT2, DPM1, DPM2, DPM3, FKTN , (...)

View the complete list with 7 more genes
Specificity
12 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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