Myasthenic Syndrome, Congenital, 12; Cms12

Description

Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Myasthenic Syndrome, Congenital, 12; Cms12

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Facial palsy
  • Hyperlordosis
  • Ophthalmoplegia

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Myasthenic Syndrome, Congenital, 12; Cms12 Is also known as myasthenic syndrome, congenital, with tubular aggregates 1, cmsta1.

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, 12; Cms12 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 %
Myasthenia congenital with tubular aggregates 1 (sequence analysis of GFPT1 gene).

By CGC Genetics (Portugal).

GFPT1
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 %
Congenital Myasthenic Syndrome via GFPT1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GFPT1
Specificity
100 %
Genes
100 %
Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCN4A, SNAP25, STIM1, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, AGRN, GFPT1, MUSK, RAPSN
Specificity
7 %
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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