Myasthenic Syndrome, Congenital, 7, Presynaptic; Cms7

Description

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS7 is an autosomal dominant CMS resulting from a presynaptic defect; patients have onset of symptoms in early childhood (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Myasthenic Syndrome, Congenital, 7, Presynaptic; Cms7

  • Hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance
  • Fatigue
  • Areflexia
  • Hyporeflexia
  • Pes cavus
  • Proximal muscle weakness

And another 9 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, 7, Presynaptic; Cms7 Is also known as myspc, myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy.

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.

Myasthenic Syndrome, Congenital, 7, Presynaptic; Cms7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 SYT2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SYT2
Specificity
100 %
Genes
100 %
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SYT2, SLC5A7, BSCL2, BICD2, TRPV4, AARS, LAS1L, REEP1, DCTN1, FBXO38, DYNC1H1, HSPB8, GAN, GARS, SETX, HINT1, DNAJB2, HSPB1, HSPB3, IGHMBP2 , (...)

View the complete list with 2 more genes
Specificity
5 %
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 %
SYT2.

By MGZ Medical Genetics Center (Germany).

SYT2
Specificity
100 %
Genes
100 %

You can get up to 3 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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