Nemaline Myopathy 8; Nem8

Description

Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Nemaline Myopathy 8; Nem8

  • Flexion contracture
  • Dysphagia
  • Myopathy
  • Respiratory failure
  • Facial palsy
  • Abnormality of the thorax
  • Akinesia
  • Hypokinesia
  • Fetal akinesia sequence
  • Nemaline bodies

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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

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Nemaline Myopathy 8; Nem8 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 %
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 Sequencing Panel.

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

RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40 , (...)

View the complete list with 8 more genes
Specificity
4 %
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 %
Congenital Myopathy Deletion/Duplication Panel.

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

RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Nemaline Myopathy Sequencing Panel.

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

TNNT1, TPM2, TPM3, ACTA1, KLHL41, CFL2, KLHL40, KBTBD13, LMOD3, NEB
Specificity
10 %
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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