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.
 

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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.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 105 free, full-text research articles on human participants. First 3 results:

Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.
 

Author(s): Amirtharaj Francis, Balaraju Sunitha, Kandavalli Vinodh, Kiran Polavarapu, Shiva Krishna Katkam, Sailesh Modi, M M Srinivas Bharath, Narayanappa Gayathri, Atchayaram Nalini, Kumarasamy Thangaraj

Journal:

 

TCAP encoded telethonin is a 19 kDa protein, which plays an important role in anchoring titin in Z disc of the sarcomere, and is known to cause LGMD2G, a rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. A total ...

Last Updated: 24 Jul 2014

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Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy.
 

Author(s): Ilka Schneider, Gisela Stoltenburg, Marcus Deschauer, Martin Winterholler, Frank Hanisch

Journal: Acta Myol. 2014 May;33(1):19-21.

 

Recessive mutations in the ANO5 gene, encoding anoctamin 5, cause proximal limb girdle muscular dystrophy (LGMD2L), Miyoshi-type distal myopathy (MM3) and asymptomatic hyper- CKemia. We report a woman with exertion-induced myalgia and weakness in the hip girdle manifesting at the ...

Last Updated: 20 May 2014

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Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C.
 

Author(s): Gülden Dınız, Filiz Hazan, Hülya Tosun Yildirim, Aycan Unalp, Muzaffer Polat, Gül Serdaroğlu, Orkide Güzel, Ozlem Bağ, Yaprak Seçıl, Figen Ozgönül, Sabiha Türe, Galip Akhan, Ajlan Tükün

Journal: Turk Patoloji Derg. 2014 ;30(2):111-7.

 

In this study, it was aimed to describe the clinical, histopathological and genetic features of 20 patients with gamma sarcoglycanopathy confirmed by muscle biopsies and genetic analysis.

Last Updated: 30 Apr 2014

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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 2 free, full-text review articles on human participants. First 3 results:

[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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cell Therapy in Limb Girdle Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Limb Girdle Muscular Dystrophy

 

Last Updated: 17 Sep 2014

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Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I
 

Status: Recruiting

Condition Summary: Becker Muscular Dystrophy; Limb-Girdle Muscular Dystrophy Type 2I

 

Last Updated: 16 Jun 2014

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Limb Girdle Muscular Dystrophy (LGMD) Natural History
 

Status: Recruiting

Condition Summary: Muscular Dystrophies, Limb-Girdle (GENETICALLY CONFIRMED)

 

Last Updated: 2 Feb 2015

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