Muscular Dystrophy-dystroglycanopathy (congenital Without Mental Retardation), Type B, 4; Mddgb4

Description

MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, mental retardation is not a feature of MDDGB4 (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Muscular Dystrophy-dystroglycanopathy (congenital Without Mental Retardation), Type B, 4; Mddgb4

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Elevated serum creatine phosphokinase
  • Muscular dystrophy
  • Generalized muscle weakness
  • Congenital muscular dystrophy

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

Muscular Dystrophy-dystroglycanopathy (congenital Without Mental Retardation), Type B, 4; Mddgb4 Is also known as muscular dystrophy, congenital, fktn-related.

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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Muscular Dystrophy-dystroglycanopathy (congenital Without Mental Retardation), Type B, 4; Mddgb4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Limb Girdle Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, TRIM32, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, DYSF, FKTN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Congenital Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

TCAP, RXYLT1, B4GAT1, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, POMGNT2, B3GALNT2, DNM2, DPM2, FKTN, FHL1, ISPD, ITGA7, LAMA2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc (United States).

SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)

View the complete list with 20 more genes
Specificity
3 %
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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