Myasthenic Syndrome, Congenital, 5; Cms5

Description

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. 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. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (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, 5; Cms5

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis
  • Dysarthria
  • Dysphagia
  • Respiratory insufficiency
  • Myopathy
  • Hyporeflexia

And another 15 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, 5; Cms5 Is also known as endplate acetylcholinesterase deficiency, ead, cms1c, formerly, engel congenital myasthenic syndrome, cms ic, formerly, congenital myasthenic syndrome type ic, formerly, myasthenic syndrome, congenital, engel type.

Researches and researchers

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Myasthenic Syndrome, Congenital, 5; Cms5 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 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 %
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
2 %
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 %
COLQ. Complete sequencing.

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

COLQ
Specificity
100 %
Genes
100 %
CHRNA1, CHAT, CHRNE, RAPSN, DOK7, COLQ. NextGeneDx.Complete sequencing by NGS.

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

CHAT, CHRNA1, CHRNE, COLQ, DOK7, RAPSN
Specificity
17 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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