Limb-girdle muscular dystrophy

Common Name(s)

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers.  Most cases of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Rarely, autosomal dominant cases have been reported. While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 19 different types of limb-girdle muscular dystrophy.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Limb-girdle muscular dystrophy" for support, advocacy or research.

LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

Last Updated: 22 May 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Limb-girdle muscular dystrophy" for support, advocacy or research.

LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

https://www.lgmd-diagnosis.org

Last Updated: 22 May 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Limb-girdle muscular dystrophy" returned 114 free, full-text research articles on human participants. First 3 results:

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.
 

Author(s): Carlos A Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C Zenteno

Journal:

 

Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects ...

Last Updated: 19 Jan 2017

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The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
 

Author(s): Francesca Magri, Vincenzo Nigro, Corrado Angelini, Tiziana Mongini, Marina Mora, Isabella Moroni, Antonio Toscano, Maria Grazia D'angelo, Giuliano Tomelleri, Gabriele Siciliano, Giulia Ricci, Claudio Bruno, Stefania Corti, Olimpia Musumeci, Giorgio Tasca, Enzo Ricci, Mauro Monforte, Monica Sciacco, Chiara Fiorillo, Sandra Gandossini, Carlo Minetti, Lucia Morandi, Marco Savarese, Giuseppina Di Fruscio, Claudio Semplicini, Elena Pegoraro, Alessandra Govoni, Roberta Brusa, Roberto Del Bo, Dario Ronchi, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi

Journal: Muscle Nerve. 2017 Jan;55(1):55-68.

 

Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their molecular definition is fundamental for prognostic and therapeutic purposes.

Last Updated: 17 May 2016

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Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy).
 

Author(s): Irina Kramerova, Natalia Ermolova, Ascia Eskin, Andrea Hevener, Oswald Quehenberger, Aaron M Armando, Ronald Haller, Nadine Romain, Stanley F Nelson, Melissa J Spencer

Journal: Hum. Mol. Genet.. 2016 Jun;25(11):2194-2207.

 

Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 (CAPN3) gene. Our previous data suggest that CAPN3 helps to maintain the integrity of the triad complex in skeletal muscle. In Capn3 knock-out mice (C3KO), Ca(2+) release and Ca(2+)/calmodulin ...

Last Updated: 18 May 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Limb-girdle muscular dystrophy" returned 3 free, full-text review articles on human participants. First 3 results:

Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy.
 

Author(s): Corrado Angelini, Elisabetta Tasca, Anna Chiara Nascimbeni, Marina Fanin

Journal: Acta Myol. 2014 Dec;33(3):119-26.

 

Muscle fatigability and atrophy are frequent clinical signs in limb girdle muscular dystrophy (LGMD), but their pathogenetic mechanisms are still poorly understood. We review a series of different factors that may be connected in causing fatigue and atrophy, particularly considering ...

Last Updated: 15 Apr 2015

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[Autosomal recessive limb-girdle muscular dystrophy].
 

Author(s): Marta E Hernández-Caballero, Antonio Miranda-Duarte, Rosa E Escobar-Cedillo, Hilda Villegas-Castrejon

Journal: Rev Neurol. 2010 Oct;51(8):489-96.

 

Muscular dystrophies are a heterogeneous group of hereditary diseases characterized by loss of muscle and weakness of non neurogenic origin. They are caused by mutations in one or more genes involved in the formation of muscle cells. The discovery of several proteins in the muscle ...

Last Updated: 6 Oct 2010

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Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
 

Author(s): Irina Kramerova, Jacques S Beckmann, Melissa J Spencer

Journal: Biochim. Biophys. Acta. 2007 Feb;1772(2):128-44.

 

Limb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpain 3 protease. Mutations in this disease are inherited in an autosomal recessive fashion and result in progressive proximal skeletal muscle wasting but no cardiac abnormalities. Calpain 3 has ...

Last Updated: 26 Jan 2007

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Molecular Analysis of Patients With Neuromuscular Disease
 

Status: Recruiting

Condition Summary: Limb-girdle Muscular Dystrophy; Duchenne Muscular Dystrophy; Becker Muscular Dystrophy; Facioscapulohumeral Muscular Dystrophy

 

Last Updated: 6 Jul 2017

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rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies
 

Status: Recruiting

Condition Summary: Dysferlinopathy

 

Last Updated: 21 Nov 2016

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Acceptance and Commitment Therapy for Muscle Disease
 

Status: Recruiting

Condition Summary: Muscle Diseases

 

Last Updated: 10 Oct 2017

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