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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Myofibrillar myopathy

Reviewed January 2011

What is myofibrillar myopathy?

Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.

The signs and symptoms of myofibrillar myopathy vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time.

Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the lens of the eyes (cataracts).

How common is myofibrillar myopathy?

The prevalence of myofibrillar myopathy is unknown.

What genes are related to myofibrillar myopathy?

Mutations in several genes can cause myofibrillar myopathy. These genes provide instructions for making proteins that play important roles in muscle fibers. Within muscle fibers, these proteins are involved in the assembly of structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). The proteins associated with myofibrillar myopathy are normally active on rod-like structures within the sarcomere called Z-discs. Z-discs link neighboring sarcomeres together to form myofibrils, the basic unit of muscle fibers. The linking of sarcomeres and formation of myofibrils provide strength for muscle fibers during repeated muscle contraction and relaxation.

Gene mutations that cause myofibrillar myopathy disrupt the function of skeletal and cardiac muscle. Various muscle proteins form clumps (aggregates) in the muscle fibers of affected individuals. The aggregates prevent these proteins from functioning normally, which reduces linking between neighboring sarcomeres. As a result, muscle fiber strength is diminished.

At least six genes have been associated with myofibrillar myopathy. Mutations in these six genes account for approximately half of all cases of this condition. Mutations in the DES, MYOT, and LDB3 genes are responsible for the majority of cases of myofibrillar myopathy when the genetic cause is known.

Related Gene(s)

Changes in these genes are associated with myofibrillar myopathy.

  • BAG3
  • CRYAB
  • DES
  • FLNC
  • LDB3
  • MYOT

How do people inherit myofibrillar myopathy?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of myofibrillar myopathy?

These resources address the diagnosis or management of myofibrillar myopathy and may include treatment providers.

  • Gene Review: Myofibrillar Myopathy (http://www.ncbi.nlm.nih.gov/books/NBK1499)
  • Genetic Testing Registry: Alpha-B crystallinopathy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1837317)
  • Genetic Testing Registry: Myofibrillar myopathy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2678065)
  • Genetic Testing Registry: Myofibrillar myopathy, BAG3-related (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2751831)
  • Genetic Testing Registry: Myofibrillar myopathy, filamin C-related (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1836050)
  • Genetic Testing Registry: Myofibrillar myopathy, ZASP-related (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1836155)
  • Genetic Testing Registry: Myofibrillar myopathy 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1832370)
  • Genetic Testing Registry: Myotilinopathy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1836607)

You might also find information on the diagnosis or management of myofibrillar myopathy in Educational resources (http://www.ghr.nlm.nih.gov/condition/myofibrillar-myopathy/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/myofibrillar-myopathy/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about myofibrillar myopathy?

You may find the following resources about myofibrillar myopathy helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for myofibrillar myopathy?

  • myofibrillar myopathies

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about myofibrillar myopathy?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding myofibrillar myopathy?

autosomal ; autosomal dominant ; cardiac ; cardiomyopathy ; cell ; contraction ; distal ; gene ; inherited ; joint ; mutation ; myalgia ; myofibrils ; neuropathy ; peripheral ; peripheral neuropathy ; prevalence ; proximal ; respiratory ; sarcomere ; scoliosis

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Ferrer I, Olivé M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18764962?dopt=Abstract)
  • Schröder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol. 2009 Jul;19(3):483-92. doi: 10.1111/j.1750-3639.2009.00289.x. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19563540?dopt=Abstract)
  • Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain. 2004 Feb;127(Pt 2):439-51. Epub 2004 Jan 7. (http://www.ncbi.nlm.nih.gov/pubmed/14711882?dopt=Abstract)
  • Selcen D. Myofibrillar myopathies. Curr Opin Neurol. 2010 Oct;23(5):477-81. doi: 10.1097/WCO.0b013e32833d38b0. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20664348?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2011
Published: October 20, 2014