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Tubular aggregate myopathy


Other Names for this Disease

  • Myopathy, tubular aggregate
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is tubular aggregate myopathy?

What are the symptoms of tubular aggregate myopathy?

What causes tubular aggregate myopathy?

How might tubular aggregate myopathy be treated?

Is tubular aggregate myopathy genetic?

Are there different types of tubular aggregate myopathy?

What is the typical prognosis (chance for recovery) of people with tubular aggregate myopathy?

What is tubular aggregate myopathy?

Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell.  It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue.[1][2] The exact cause of the condition is unknown. Sporadic and genetic forms have been reported.[1][3][4] Some cases appear to be due to dominant mutations in the STIM1 gene.[5]
Last updated: 8/15/2014

What are the symptoms of tubular aggregate myopathy?

In general, many people with tubular aggregate myopathy have muscle weakness, muscle cramps, and exercise induced fatigue. Typically the facial muscles are not affected in tubular aggregate myopathy.[1][3][4][2]
Last updated: 8/15/2014

What causes tubular aggregate myopathy?

Currently, the underlying cause of tubular aggregate myopathy is not known. Some cases appear to be due to dominant mutations in the STIM1 gene.[5]
Last updated: 8/15/2014

How might tubular aggregate myopathy be treated?

Currently, we are unaware of any targeted therapies for tubular aggregate myopathy. There is very limited information in the medical literature regarding the treatment of this condition. Supportive therapies may be recommended depending on the severity of symptoms and associated complications. High dose steroids were reported to be effective in one case.[6]
Last updated: 8/15/2014

Is tubular aggregate myopathy genetic?

It is evident from family history studies that the condition can be passed through families in either an autosomal dominant or autosomal recessive fashion. Some cases appear to be due to dominant mutations in the STIM1 gene.[5] Sporadic cases of tubular aggregate myopathy have also been reported. “Sporadic” is used to denote either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.
Last updated: 8/15/2014

Are there different types of tubular aggregate myopathy?

Yes. Symptoms of  tubular aggregate myopathy can be be grouped into at least three different types.  The first type is characterized by exercise induced cramps with or without muscle pain associated or not with weakness in the proximal muscles. The second type of tubular aggregate myopathy is characterized by isolated, slowly progressive weakness of the proximal muscles. The third type is characterized by progressive proximal weakness and sometimes fatigability. In this type the serum creatine kinase levels are often elevated.[2]
Last updated: 8/15/2014

What is the typical prognosis (chance for recovery) of people with tubular aggregate myopathy?

The severity of tubular aggregate myopathy varies from patient to patient. In general, it can be a slowly progressive and chronic disease, however at least one case report describes a patient who completely recovered with a period of steroid treatment.[1]
Last updated: 8/15/2014

References
  1. Gilchrist JM, Ambler M, Agatiello P. Steroid-responsive tubular aggregate myopathy. Muscle & Nerve. 1991 Mar; 14(3):233-6. http://www.ncbi.nlm.nih.gov/pubmed/?term=2041544. Accessed 8/15/2014.
  2. Chevessier F et al. The origin of tubular aggregates in human myopathies. J Pathol. 2005 Nov; 207(3):313-23. http://www.ncbi.nlm.nih.gov/pubmed/16178054. Accessed 8/15/2014.
  3. Kim NR, Suh YL. Tubular aggregate myopathy: A case report. J Korean Med Sci. 2003 Feb; 18(1):135-40. http://www.ncbi.nlm.nih.gov/pubmed/12589105. Accessed 8/15/2014.
  4. Pandit L, Narayanappa G, Bhat I, Thomas V. Autosomal recessive tubular aggregate myopathy in an Indian family. European Journal of Paediatric Neurology. 2009 Jul; 13(4):373-5. http://www.ncbi.nlm.nih.gov/pubmed/?term=18684652. Accessed 8/15/2014.
  5. Böhm J et al. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet. 2013 Feb; 92(2):271-8. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567276/. Accessed 8/15/2014.
  6. Gilchrist JM, Ambler M, Agatiello P. Steroid-responsive tubular aggregate myopathy. Muscle Nerve. 1991 Mar;14(3):233-6; http://www.ncbi.nlm.nih.gov/pubmed/2041544. Accessed 10/26/2011.


Other Names for this Disease
  • Myopathy, tubular aggregate
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.