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Genetic and Rare Diseases Information Center (GARD)

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Trabecular fiber myopathy


Other Names for this Disease

  • Myopathy with lobulated fibers
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Your Question

I have been diagnosed with trabecular fiber myopathy and can find nothing about it. I would like any information you can give me.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is trabecular fiber myopathy (TFM)?

Trabecular fiber myopathy (TFM) is a muscle disease that typically begins during adulthood. This condition is characterized by slowly progressive muscle weakness in the upper (proximal) portions of each limb (upper arms and thighs). Affected individuals are often grouped in the general category of limb-girdle muscular dystrophy. Weakness of other muscles may also occur, although people with TFM do not develop eye muscle weakness or cardiomyopathy. Affected individuals may have cramps, fatigue, and high creatine kinase (CK) levels. TFM occurs in both males and females. Most affected individuals do not have a family history of related muscle problems.[1]
Last updated: 8/3/2009

What causes trabecular fiber myopathy (TFM)?

TFM is defined as the presence of trabecular fibers in more than 20 percent of a muscle biopsy.[1] Trabecular (also called lobulated) fibers are characterized by abnormal distribution of mitochondria, the energy producing centers within cells. In these abnormal fibers, mitochondria cluster together in some areas and are absent in other areas. Researchers propose that this abnormal distribution of mitochondria results in uneven availability of energy within the muscle cell, which could lead to abnormal muscle structure and function.[1] Most affected individuals have around 40 to 90 percent trabecular fibers in a muscle biopsy.[1]

The underlying cause of TFM remains unknown. It is unlikely that this condition has a direct genetic cause, because most affected individuals do not have a family history of related muscle problems.[1] TFM is probably caused by a variety of factors.[2]
Last updated: 8/3/2009

References
  • Weller B, Carpenter S, Lochmuller H, Karpati G. Myopathy with trabecular muscle fibers. Neuromuscular Disorders. 1999;
  • Figarella-Branger D, El-Dassouki M, Saenz A, Cobo AM, Malzac P, Tong S, Cassotte E, Azulay JP, Pouget J, Pellissier JF. Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation. Neuromuscular Disorders. 2002; 12(1):4-12.
Other Names for this Disease
  • Myopathy with lobulated fibers
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.