Myofibrillar myopathy

Common Name(s)

Myofibrillar myopathy

Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy or cardiomyopathy may also be present. Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the condition can appear anytime between infancy and late adulthood. It may be caused by mutations in any of several genes, including DES, CRYAB, MYOT, LDB3, FLNC,  and BAG3;  the signs and symptoms of MFM can vary widely depending on the condition's genetic cause. It is inherited in an autosomal dominant manner. Treatment may include a pacemaker and implantable cardioverter defibrillator (ICD) for arrhythmia or cardiac conduction defects; cardiac transplantation for progressive or life-threatening cardiomyopathy; respiratory support for respiratory failure; and physical therapy and assistive devices for those with advanced muscle weakness.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myofibrillar myopathy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Myofibrillar myopathy" returned 15 free, full-text research articles on human participants. First 3 results:

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
 

Author(s): Vandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, Emily J Todd, Lindsay C Swanson, Masaaki Shiina, Kazuhiro Ogata, Cynthia Hsu, Nigel F Clarke, Basil T Darras, Michelle A Farrar, Amal Hashem, Nicholas D Manton, Francesco Muntoni, Kathryn N North, Sarah A Sandaradura, Ichizo Nishino, Yukiko K Hayashi, Caroline A Sewry, Elizabeth M Thompson, Kyle S Yau, Catherine A Brownstein, Timothy W Yu, Richard J N Allcock, Mark R Davis, Carina Wallgren-Pettersson, Naomichi Matsumoto, Fowzan S Alkuraya, Nigel G Laing, Alan H Beggs

Journal: Am. J. Hum. Genet.. 2013 Dec;93(6):1108-17.

 

Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal muscles that results in neonatal death in severe cases as a result of associated respiratory insufficiency. NM is thought to be a disease of sarcomeric thin filaments as six of eight known genes ...

Last Updated: 9 Dec 2013

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Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.
 

Author(s): Rudolf A Kley, Peter F M van der Ven, Montse Olivé, Jörg Höhfeld, Lev G Goldfarb, Dieter O Fürst, Matthias Vorgerd

Journal: Autophagy. 2013 Mar;9(3):422-3.

 

Myofibrillar myopathy caused by FLNC/filamin C mutations is characterized by disintegration of myofibrils and a massive formation of protein aggregates within skeletal muscle fibers. We performed immunofluorescence studies in skeletal muscle sections from filaminopathy patients to ...

Last Updated: 21 Feb 2013

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Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
 

Author(s): Giorgio Tasca, Zagaa Odgerel, Mauro Monforte, Stefania Aurino, Nigel F Clarke, Leigh B Waddell, Bjarne Udd, Enzo Ricci, Lev G Goldfarb

Journal: Muscle Nerve. 2012 Aug;46(2):275-82.

 

Mutations in the gene that encodes filamin C, FLNC, represent a rare cause of a distinctive type of myofibrillar myopathy (MFM).

Last Updated: 18 Jul 2012

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

Cardiovascular manifestations of myofibrillar myopathy.
 

Author(s): Ayman A El Menyar, Abdulbari Bener, Jassim Al Suwaidi

Journal: Anadolu Kardiyol Derg. 2004 Dec;4(4):336-8.

 

Myofibrillar myopathy (MFM) is a rare autosomal dominant disorder characterized by cardiac and skeletal myopathy. Either of these can dominate in the clinical picture. It is associated with cardiomyopathy, arrhythmia and/or atrioventricular (AV) conduction defects. Myofibrillar myopathy ...

Last Updated: 13 Dec 2004

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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.