Autosomal Dominant Limb-girdle Muscular Dystrophy Type 1d

Description

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Limb-girdle Muscular Dystrophy Type 1d

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Dysphagia
  • Myopathy
  • Areflexia
  • Elevated serum creatine phosphokinase
  • Pes cavus
  • Dyspnea
  • Proximal muscle weakness

And another 32 symptoms. If you need more information about this disease we can help you.

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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 Dominant Limb-girdle Muscular Dystrophy Type 1d Is also known as lgmd1d, lgmd1e, muscular dystrophy, limb-girdle, type 1d, formerly, muscular dystrophy, limb-girdle, type 1e, lgmd1d, formerly.

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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Autosomal Dominant Limb-girdle Muscular Dystrophy Type 1d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Limb-Girdle Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK, DAG1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK, DAG1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Muscular dystrophy, limb-girdle, type 1E.

By Human Genetics University Hospital Bern (Switzerland).

DNAJB6
Specificity
100 %
Genes
100 %
Limb-girdle muscular dystrophy type 1E (LGMD1E, sequence analysis of DNAJB6 gene).

By CGC Genetics (Portugal).

DNAJB6
Specificity
100 %
Genes
100 %

We have 54 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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