Autosomal Recessive Emery-dreifuss Muscular Dystrophy
Description
Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.
Genes related to Autosomal Recessive Emery-dreifuss Muscular Dystrophy
- LMNA
Clinical Features
Top most frequent phenotypes and symptoms related to Autosomal Recessive Emery-dreifuss Muscular Dystrophy
- Intellectual disability
- Scoliosis
- Micrognathia
- Muscle weakness
- Abnormal facial shape
- Muscular hypotonia
- Ptosis
- Flexion contracture
- Hypertension
- Skeletal muscle atrophy
And another 65 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
Autosomal Recessive Emery-dreifuss Muscular Dystrophy Is also known as edmd3.
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.Autosomal Recessive Emery-dreifuss Muscular Dystrophy Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
CMT Advanced Evaluation - Dominant, Axonal.
By Athena Diagnostics Inc (United States).
YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
10 %
Genes
100 % |
CMT Advanced Evaluation - Comprehensive.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
CMT Advanced Evaluation - Axonal.
By Athena Diagnostics Inc (United States).
YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
8 %
Genes
100 % |
CMT Advanced Evaluation - Recessive.
By Athena Diagnostics Inc (United States).
PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1
Specificity
12 %
Genes
100 % |
LMNA (CMT2B1) DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
LMNA
Specificity
100 %
Genes
100 % |
Lamin A/C (LMNA) DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
LMNA
Specificity
100 %
Genes
100 % |
CMT Advanced Evaluation - Nonprevalent.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc (United States).
SYNE2, SYNE1, TMEM43, EMD, FHL1, LMNA
Specificity
17 %
Genes
100 % |
You can get up to 442 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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