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).
Genes related to Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency; Pgbm1
- RBCK1
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.
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
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.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 % |
You can get up to 16 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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