Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2c

Description

Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

Clinical Features

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

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy
  • Respiratory insufficiency
  • Cardiomyopathy
  • Congestive heart failure
  • Arrhythmia
  • Elevated serum creatine phosphokinase

And another 43 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C have a estimated prevalence of 0.2 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2c Is also known as severe childhood autosomal recessive muscular dystrophy, north african type, dmda, lgmd2c, muscular dystrophy, limb-girdle, type 2c, limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency, duchenne-like muscular dystrophy, autosomal recessive, type.

Researches and researchers

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

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



Current Researchs and researchers

  • 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:
      — Universit√† degli Studi di Padova- Polo A.Vallisneri
    • Research area/topic::

      Small molecule-based therapy for sarcoglycanopathies. Assessment of efficacy and tolerability in novel animal models



Mendelian

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Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2c 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 %
SGCG Duplication/Deletion Test.

By Athena Diagnostics Inc (United States).

SGCG
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 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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