Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency; Pgbm1

Description

Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

Clinical Features

Top most frequent phenotypes and symptoms related to Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency; Pgbm1

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • Hepatomegaly
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure
  • Immunodeficiency

And another 19 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

Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency; Pgbm1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency, pbmei.

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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Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency; Pgbm1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RBCK1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

RBCK1
Specificity
100 %
Genes
100 %
RBCK1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

RBCK1
Specificity
100 %
Genes
100 %
Glycogen Storage Disease- Muscle.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

RBCK1, AGL, ENO3, FBP2, GAA, ALDOA, GBE1, GYG1, GYS1, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKG1, PYGM
Specificity
6 %
Genes
100 %
Glycogen Storage Disease- Heart.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

RBCK1, AGL, GBE1, GYG1, GYS1, PRKAG2
Specificity
17 %
Genes
100 %
Rhabdomyolysis.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

RYR1, SLC22A5, LPIN1, CAV3, RBCK1, CPT1B, CPT2, ISCU, AGL, ENO3, ETFA, ETFB, ETFDH, FBP2, GAA, ALDOA, GBE1, GYG1, GYS1, HADHA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Polyglucosan Body Myopathy Type I, with or without Immunodeficiency, via RBCK1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RBCK1
Specificity
100 %
Genes
100 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

RYR1, SLC22A5, SUCLA2, TAZ, TWNK, TK2, LPIN1, SLC25A20, RBCK1, COQ8A, RRM2B, PDSS1, FKRP, ABHD5, ACAD9, PDSS2, CPT1A, CPT2, SIL1, FLAD1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Polyglucosan body myopathy type 1 with or without immunodeficiency.

By Centogene AG - the Rare Disease Company (Germany).

RBCK1
Specificity
100 %
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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