Multiminicore disease

Common Name(s)

Multiminicore disease, Multi-minicore disease (MmD)

Multiminicore disease (MmD) is an inherited condition of the nerves and skeletal muscles, often associated with congenital myopathy (wasting of the muscles that is present at birth). There are different genes associated with MmD, and the severity of the condition often depends on the genes that are affected, ranging from mild to life threatening.

The classical type is often present at birth and is caused by mutations in the SEPN1 gene. Common symptoms may include muscle rigidity, early scoliosis (curving of the spine), and respiratory impairment. Other forms are less common and vary in age of onset and symptoms. When the mutation occurs in the RYR1 gene, more widespread clinical features are present, including ophthalmoplegia (paralysis of eye muscles) and distal (outer) muscle weakness, among other signs. Some forms have hand involvement as well as stiff and rigid joints. Individuals with MmD have an increased risk of having severe and life-threatening reactions to certain drugs during surgery. Diagnosis is made through observation of symptoms and positive muscle biopsies presenting with small, disorganized areas of muscle fibers called "minicores". Respiratory impairment may be an issue in both treatment and management as it often worsens more quickly than the muscles of the body.

MmD is inherited in an autosomal recessive pattern that means that both copies of the gene causing this condition must have changes (or mutations). The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Each child of two carrier parents has a 25% chance of also inheriting the condition. A genetic counselor can provide a better understanding of the underlying cause and recurrence risks. If your child has been diagnosed with multiminicore disease, contact your doctor to discuss the most current treatment options.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiminicore disease" for support, advocacy or research.

Team Titin

Team Titin is making a worldwide difference in Titin related muscle and heart disorders by: collaborating with other organizations, raising awareness, providing education, and supporting research. Our goal is to serve as a catalyst for researchers and clinicians to develop a better understanding of Titin related disorders leading ultimately to a cure.

Last Updated: 23 May 2016

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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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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiminicore disease" for support, advocacy or research.

Team Titin

Team Titin is making a worldwide difference in Titin related muscle and heart disorders by: collaborating with other organizations, raising awareness, providing education, and supporting research. Our goal is to serve as a catalyst for researchers and clinicians to develop a better understanding of Titin related disorders leading ultimately to a cure.

http://titinmyopathy.com/

Last Updated: 23 May 2016

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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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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 "Multiminicore disease" returned 1 free, full-text research articles on human participants. First 3 results:

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
 

Author(s): Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, Behzad Moghadaszadeh, Nathalie Goemans, Carsten Bönnemann, Heinz Jungbluth, Volker Straub, Marcello Villanova, Jean-Paul Leroy, Norma B Romero, Jean-Jacques Martin, Francesco Muntoni, Thomas Voit, Brigitte Estournet, Pascale Richard, Michel Fardeau, Pascale Guicheney

Journal: Am. J. Hum. Genet.. 2002 Oct;71(4):739-49.

 

Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as "minicores") in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished. Homozygous ...

Last Updated: 25 Sep 2002

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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 "Multiminicore disease" returned 1 free, full-text review articles on human participants. First 3 results:

Functional effects of mutations identified in patients with multiminicore disease.
 

Author(s): Francesco Zorzato, Heinz Jungbluth, Haiyan Zhou, Francesco Muntoni, Susan Treves

Journal: IUBMB Life. 2007 Jan;59(1):14-20.

 

Multiminicore disease is a recessive congenital myopathy characterized by the presence of small cores or areas lacking oxidative enzymes, in skeletal muscle fibres. From a clinical point of view, the condition is widely heterogeneous and at least four phenotypes have been identified; ...

Last Updated: 16 Mar 2007

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Molecular and Genetic Studies of Congenital Myopathies
 

Status: Recruiting

Condition Summary: Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

 

Last Updated: 8 Dec 2016

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Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed); Dystroglycanopathy; Congenital Fiber Type Disproportion; Rigid Spine Muscular Dystrophy; Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2-CMD/Merosin Deficient/MDC1A; Walker-Warburg Syndrome; Muscle-Eye-Brain Disease; Fukuyama/Fukutin Related Muscular Dystrophy; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; LMNA-CMD/Lamin A/C/Laminopathy; SEPN1-Related Myopathy; Bethlem Myopathy; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Myopathy; Reducing Body Myopathy; Spheroid Body Myopathy; LGMD1B (LMNA); LGMD1E (DES); LGMD2G (TCAP); LGMD2H (TRIM32); LGMD2I (FKRP); LGMD2J (TTN); LGMD2K (POMT1); LGMD2M (FKTN); LGMD2N (POMT2); LGMD2O (POMGnT1); LGMD2P (DAG1); LGMD2Q (PLEC1); LGMD2R (DES); LGMD2S (TRAPPC11); LGMD2T (GMPPB); LGMD2U (ISPD); LGMD2V (GAA); Ullrich Congenital Muscular Dystrophy; Titinopathy; Choline Kinase B Receptor; Emery-Dreifuss Muscular Dystrophy; RYR1 Related Myopathy; SYNE1/Nesprin Related Muscular Dystrophy; Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap); Congenital Myasthenic Syndrome; Escobar Syndrome; Myofibrillar Myopathy; Malignant Hyperthermia; Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN); Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1); Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)

 

Last Updated: 5 May 2017

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