Myasthenic Syndrome, Congenital, 8; Cms8

Description

Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by Maselli et al., 2012).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Myasthenic Syndrome, Congenital, 8; Cms8

  • Muscle weakness
  • Ptosis
  • High palate
  • Respiratory insufficiency
  • Dyspnea
  • Pes planus
  • Proximal muscle weakness
  • Facial palsy
  • Narrow chest
  • Limb muscle weakness

And another 5 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

Myasthenic Syndrome, Congenital, 8; Cms8 Is also known as cmsppd, myasthenic syndrome, congenital, due to agrin deficiency, myasthenic syndrome, congenital, with pre- and postsynaptic defects.

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.


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Myasthenic Syndrome, Congenital, 8; Cms8 Recommended genes panels

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

By Athena Diagnostics Inc (United States).

SCN4A, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, AGRN, GFPT1, MUSK, RAPSN
Specificity
8 %
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 Myasthenic Syndrome Sequencing Panel.

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

SCN4A, SNAP25, SYT2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, ALG2, DOK7, ALG14, DPAGT1, PREPL, AGRN, GFPT1, LRP4, MUSK, RAPSN
Specificity
5 %
Genes
100 %
Congenital Myasthenic Syndrome Deletion/Duplication Panel.

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

SCN4A, SNAP25, SYT2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, ALG2, DOK7, ALG14, DPAGT1, PREPL, AGRN, GFPT1, LRP4, MUSK, RAPSN
Specificity
5 %
Genes
100 %
AGRN. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

AGRN
Specificity
100 %
Genes
100 %
Myasthenic syndrome, congenital (NGS panel for 17genes).

By CGC Genetics (Portugal).

SCN4A, SYT2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, AGRN, GFPT1, LAMB2, MUSK, PLEC, RAPSN
Specificity
6 %
Genes
100 %
Limb-girdle myasthenia syndrome, familial (sequence analysis of AGRN gene).

By CGC Genetics (Portugal).

AGRN
Specificity
100 %
Genes
100 %
Myasthenic syndrome fast channel congenital (NGS panel for 8 genes).

By CGC Genetics (Portugal).

CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, AGRN, MUSK, RAPSN
Specificity
13 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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