Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2d

Description

Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2d

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Respiratory insufficiency
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Difficulty walking
  • Proximal muscle weakness
  • Hyperlordosis

And another 27 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 Limb-girdle Muscular Dystrophy Type 2d Is also known as duchenne-like autosomal recessive muscular dystrophy, type 2, muscular dystrophy, limb-girdle, type 2d, dmda2, alpha-sarcoglycanopathy, lgmd2d, adhalinopathy, primary, limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2d extracted from public data.

Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2d Experts map



Current Researchs and researchers

  • EVRY — Dr Isabelle RICHARD

    Investigator of research project

    • Institution/s:
      — Institut des Biothérapies, Généthon
    • Research area/topic::

      Pre-clinical development of an AAV-mediate gene therapy for alpha-sarcoglycan deficiency (LGMD-2D)


  • GENOVA — Dr Claudio BRUNO

    Investigator of research project

    • Institution/s:
      — Dipartimento di Neuroscienze e Riabilitazione, IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Research area/topic::

      Extracellular ATP and T regulatory cells: new therapeutics targets in alpha-sarcoglycan deficient muscular dystrophy (LGMD2D)


  • MILANO — Pr Alessandra PEDROCCHI

    Investigator of research project

    • Institution/s:
      — Politecnico di Milano
    • Research area/topic::

      USEFUL: Sistema assistivo centrato sull'utente per il supporto delle funzioni del braccio in soggetti affetti da patologie neuromoscolari


  • PADOVA — Dr Dorianna SANDONA'

    Investigator of research project

    • Institution/s:
      — Università degli Studi di Padova- Polo A.Vallisneri
    • Research area/topic::

      Small molecules to rescue folding-defective sarcoglycans: in vivo assessment of novel therapeutic strategies


Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2d 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 %
SGCA Duplication/Deletion Test.

By Athena Diagnostics Inc (United States).

SGCA
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 %
Limb-Girdle Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, COL6A1, COL6A2, COL6A3, GNE , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %

You can get up to 82 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TUBEROUS SCLEROSIS 2; TSC2 TUBEROUS SCLEROSIS 1; TSC1