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

Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations.
 

Author(s): Kitae Kim, Hyung Jun Park, Jung Hwan Lee, Jiman Hong, Suk Won Ahn, Young Chul Choi

Journal: Yonsei Med. J.. 2018 Jul;59(5):698-701.

 

Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database. LGMD1D is characterized predominantly by limb-girdle ...

Last Updated: 31 Dec 1969

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Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).
 

Author(s): Jianbo Wu, Samuel D Hunt, Nadine Matthias, Emilia Servián-Morilla, Jonathan Lo, Hamed Jafar-Nejad, Carmen Paradas, Radbod Darabi

Journal: Stem Cell Res. 2017 10;24():102-105.

 

Recently, a new type of limb-girdle muscular dystrophy (LGMD type 2Z) has been identified due to a missense mutation in POGLUT1 (protein O-glucosyltransferase-Rumi), an enzyme capable of adding glucose to a distinct serine residue of epidermal growth factor-like repeats containing ...

Last Updated: 31 Dec 1969

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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
 

Author(s): Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub

Journal:

 

Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to allow an accurate differential diagnosis based on the clinical signs only, ...

Last Updated: 31 Dec 1969

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

Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review.
 

Author(s): Chuan Xu, Jiajun Chen, Yingyu Zhang, Jia Li

Journal: Medicine (Baltimore). 2018 May;97(21):e10539.

 

Dysferlin myopathy is an autosomal recessive hereditary muscular dystrophy due to deficiency of dysferlin caused by alteration of the DYSF gene; Limb-girdle muscular dystrophy type 2B (LGMD2B) is the most common in Its clinical phenotypes. However, LGMD2B is rarely seen in clinical ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Limb Girdle Muscular Dystrophy Type 2E Recruitment Study
 

Status: Recruiting

Condition Summary: Limb-Girdle Muscular Dystrophy, Type 2E

 

Last Updated: 3 Apr 2018

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Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E
 

Status: Recruiting

Condition Summary: Limb-Girdle Muscular Dystrophy Type 2A; Limb-Girdle Muscular Dystrophy, Type 2E

 

Last Updated: 29 Mar 2018

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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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