Muscular Dystrophy, Limb-girdle, Autosomal Recessive 1; Lgmdr1
Description
Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures (summary by Mercuri et al., 2005).
Genes related to Muscular Dystrophy, Limb-girdle, Autosomal Recessive 1; Lgmdr1
- CAPN3
Clinical Features
Top most frequent phenotypes and symptoms related to Muscular Dystrophy, Limb-girdle, Autosomal Recessive 1; Lgmdr1
- Muscle weakness
- Flexion contracture
- Myopathy
- Elevated serum creatine phosphokinase
- Difficulty walking
- Proximal muscle weakness
- Facial palsy
- Muscular dystrophy
- Inability to walk
- Clumsiness
And another 8 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
Muscular Dystrophy, Limb-girdle, Autosomal Recessive 1; Lgmdr1 Is also known as lgmd2, muscular dystrophy, limb-girdle, type 2a, lgmd2a, muscular dystrophy, pelvofemoral, calpainopathy, leyden-moebius muscular dystrophy, muscular dystrophy, limb-girdle, type 2.
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.Muscular Dystrophy, Limb-girdle, Autosomal Recessive 1; Lgmdr1 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 % |
CAPN3 Evaluation.
By Athena Diagnostics Inc (United States).
CAPN3
Specificity
100 %
Genes
100 % |
CAPN3 Duplication/Deletion Test.
By Athena Diagnostics Inc (United States).
CAPN3
Specificity
100 %
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 % |
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 % |
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Learn moreSources and references
You can check the following sources for additional information.
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