Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2j

Description

Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

Clinical Features

Phenotypes and symptoms related to Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2j

  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Distal muscle weakness
  • Muscular dystrophy
  • EMG: myopathic abnormalities
  • Limb-girdle muscular dystrophy
  • Transient myeloproliferative syndrome

Incidence and onset information

— Based on the latest data available there are 1 families with AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J in Europe.
No data available about the known clinical features onset.

Alternative names

Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2j Is also known as lgmd2j, muscular dystrophy, limb-girdle, type 2j.

Researches and researchers

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

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



Current Researchs and researchers

  • HELSINKI — Pr Bjarne UDD

    Clinical expert - Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Department of Neurology, University of Tampere
      — Folkhälsan Research Center, Folkhälsan
      — TAYS - Tampere University Hospital
    • Research area/topic::

      M-line titin mutations in tibial muscular dystrophy and limb-girdle muscular dystrophy type 2J


  • TAMPERE — Pr Bjarne UDD

    Clinical expert - Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Department of Neurology, University of Tampere
      — Folkhälsan Research Center, Folkhälsan
      — TAYS - Tampere University Hospital
    • Research area/topic::

      M-line titin mutations in tibial muscular dystrophy and limb-girdle muscular dystrophy type 2J


  • UNIVERSITY OF TAMPERE — Pr Bjarne UDD

    Clinical expert - Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Department of Neurology, University of Tampere
      — Folkhälsan Research Center, Folkhälsan
      — TAYS - Tampere University Hospital
    • Research area/topic::

      M-line titin mutations in tibial muscular dystrophy and limb-girdle muscular dystrophy type 2J



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Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2j Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Distal Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

TIA1, MYOT, TTN, VCP, CAV3, LDB3, KLHL9, GNE, CRYAB, ANO5, DES, DNM2, DYSF, FLNC, MATR3, MYH7, NEB
Specificity
6 %
Genes
50 %
Myofibrillar Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

MYOT, TTN, LDB3, SELENON, CRYAB, DES, FHL1, FLNC, BAG3
Specificity
12 %
Genes
50 %
Congenital Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
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
50 %
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
50 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
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
50 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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