Minicore myopathy with external ophthalmoplegia

Common Name(s)

Minicore myopathy with external ophthalmoplegia

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable ({5:Ferreiro and Fardeau, 2002}). Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death ({10:McKie et al., 2014}). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores ({8:Jungbluth et al., 2007}), congenital fiber-type disproportion (CFTD) ({12:Monnier et al., 2009}), and centronuclear myopathy ({17:Wilmshurst et al., 2010}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Minicore myopathy with external ophthalmoplegia" for support, advocacy or research.

The RYR-1 Foundation

The primary goal of the Foundation is to find a cure for RYR-1 related muscle diseases. To achieve this goal, the Foundation has several missions: 1) Support Research 2) Physician Education 3) Patient/family support and advocacy

Last Updated: 16 Mar 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Minicore myopathy with external ophthalmoplegia" for support, advocacy or research.

The RYR-1 Foundation

The primary goal of the Foundation is to find a cure for RYR-1 related muscle diseases. To achieve this goal, the Foundation has several missions: 1) Support Research 2) Physician Education 3) Patient/family support and advocacy

http://www.ryr1.org

Last Updated: 16 Mar 2015

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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 "Minicore myopathy with external ophthalmoplegia" 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 "Minicore myopathy with external ophthalmoplegia" 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.