Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2x
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.
Genes related to Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2x
Clinical FeaturesTop most frequent phenotypes and symptoms related to Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2x
- Muscle weakness
- Elevated serum creatine phosphokinase
- Proximal muscle weakness
- Muscular dystrophy
- Limb muscle weakness
- Atrioventricular block
- Centrally nucleated skeletal muscle fibers
And another 4 symptoms. If you need more information about this disease we can help you.
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.
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 researchersCurrently, 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|
By Fulgent Genetics Fulgent Genetics (United States).
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
You can get up to -6 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM ORPHANET Rare Disease Search Engine
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WHITE-SUTTON SYNDROME; WHSUS OCULOAURICULAR SYNDROME; OCACS ICHTHYOSIS VULGARIS AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE ALLAN-HERNDON-DUDLEY SYNDROME; AHDS BURKITT LYMPHOMA; BL