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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 108 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

Go To URL
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

Go To URL
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
 

Author(s): Natássia M Vieira, Michel S Naslavsky, Luciana Licinio, Fernando Kok, David Schlesinger, Mariz Vainzof, Nury Sanchez, João Paulo Kitajima, Lihi Gal, Natale Cavaçana, Peter R Serafini, Silvia Chuartzman, Cristina Vasquez, Adriana Mimbacas, Vincenzo Nigro, Rita C Pavanello, Maya Schuldiner, Louis M Kunkel, Mayana Zatz

Journal: Hum. Mol. Genet.. 2014 Aug;23(15):4103-10.

 

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. More than 20 genes with autosomal recessive (LGMD2A to LGMD2Q) and autosomal dominant ...

Last Updated: 5 Jul 2014

Go To URL

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

Go To URL
[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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

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

Go to URL
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

Go to URL
Limb Girdle Muscular Dystrophy (LGMD) Natural History
 

Status: Recruiting

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

 

Last Updated: 2 Feb 2015

Go to URL