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.

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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 "Myofibrillar myopathy" returned 18 free, full-text research articles on human participants. First 3 results:

In vivo characterization of human myofibrillar myopathy genes in zebrafish.
 

Author(s): John B Bührdel, Sofia Hirth, Mirjam Kessler, Sören Westphal, Monika Forster, Linda Manta, Gerhard Wiche, Benedikt Schoser, Joachim Schessl, Rolf Schröder, Christoph S Clemen, Ludwig Eichinger, Dieter O Fürst, Peter F M van der Ven, Wolfgang Rottbauer, Steffen Just

Journal: Biochem. Biophys. Res. Commun.. 2015 May;461(2):217-23.

 

Myofibrillar myopathies (MFM) are progressive diseases of human heart and skeletal muscle with a severe impact on life quality and expectancy of affected patients. Although recently several disease genes for myofibrillar myopathies could be identified, today most genetic causes and ...

Last Updated: 11 May 2015

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Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.
 

Author(s): Xiaoyan Lin, Janelle Ruiz, Ilda Bajraktari, Rachel Ohman, Soojay Banerjee, Katherine Gribble, Joshua D Kaufman, Paul T Wingfield, Robert C Griggs, Kenneth H Fischbeck, Ami Mankodi

Journal: J. Biol. Chem.. 2014 May;289(19):13615-26.

 

The core of skeletal muscle Z-discs consists of actin filaments from adjacent sarcomeres that are cross-linked by α-actinin homodimers. Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP)/Cypher interacts with α-actinin, myotilin, and other Z-disc proteins ...

Last Updated: 12 May 2014

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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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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

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