Limb-girdle muscular dystrophy, type 1E

Common Name(s)

Limb-girdle muscular dystrophy, type 1E

LGMD1E is an autosomal dominant muscular disorder characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable, and can range from the first to sixth decade, although later onset is less common. Most patients present with proximal muscle weakness that progresses to distal involvement, but some can present with distal impairment. The severity is variable: patients with a more severe phenotype can lose ambulation after several decades and have facial weakness with bulbar and respiratory involvement. Muscle biopsy shows dystrophic changes with protein aggregates, myofibrillar degeneration, and rimmed vacuoles (summary by {7:Ruggieri et al., 2015}). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMD1A ({159000}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Limb-girdle muscular dystrophy, type 1E" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Limb-girdle muscular dystrophy, type 1E" 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, type 1E" returned 0 free, full-text research articles on human participants.

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, type 1E" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.