Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2x

Description

Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.

Clinical Features

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

  • Muscle weakness
  • Cardiomyopathy
  • Arrhythmia
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Muscular dystrophy
  • Limb muscle weakness
  • Syncope
  • Atrioventricular block
  • Centrally nucleated skeletal muscle fibers

And another 4 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 Recessive Limb-girdle Muscular Dystrophy Type 2x Is also known as autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome, lgmd2x, muscular dystrophy, limb-girdle, type 2x.

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 Limb-girdle Muscular Dystrophy Type 2x Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BVES.

By Fulgent Genetics Fulgent Genetics (United States).

BVES
Specificity
100 %
Genes
100 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

SGCA, SGCB, SGCD, SGCG, BVES, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, DAG1, ANO5 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %

You can get up to -6 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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