Myasthenic Syndrome, Congenital, 14; Cms14

Description

Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Myasthenic Syndrome, Congenital, 14; Cms14

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Respiratory insufficiency
  • Myopathy
  • Elevated serum creatine phosphokinase

And another 19 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, 14; Cms14 Is also known as cmsta3, myasthenic syndrome, congenital, with tubular aggregates 3.

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, 14; Cms14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
ALG2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALG2
Specificity
100 %
Genes
100 %
ALG2 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALG2
Specificity
100 %
Genes
100 %
ALG2 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALG2
Specificity
100 %
Genes
100 %
ALG2 Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALG2
Specificity
100 %
Genes
100 %
ALG2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ALG2
Specificity
100 %
Genes
100 %
Congenital Disorders of Glycosylation Panel.

By Baylor Miraca Genetics Laboratories (United States).

SLC35A1, ALG9, ALG1, ATP6V0A2, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DPAGT1, DPM1, DPM3, RFT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %

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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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