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Genetic and Rare Diseases Information Center (GARD)

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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.

Your Question

What is tubular aggregate myopathy?

Our Answer

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

What is a myopathy?

Myopathy is a disorder of muscle tissue or muscles.
Last updated: 8/15/2014

What are tubular aggregates?

Tubular aggregates are a collection of small tubes that originate from the sarcoplasmic reticulum in the muscle cell. The sarcoplasmic reticulum is a structure in muscle cells that assists with muscle contraction and relaxation by releasing and storing calcium ions. Calcium ions act as signals for a large number of activities that are important for the normal development and function of cells.[1]

Tubular aggregates are uncommon but not rare findings on muscle biopsy.[2] While often not a major finding, they have been seen in a variety of muscle diseases, such as:[2][3][4]

  • Hypokalemic periodic paralysis
  • Hyperaldosteronism
  • Facioscapulohumeral dystrophy with aminoaciduria
  • Myotonia congenital
  • Myasthenia gravis
  • Alcohol-induced myopathy
  • Exercise-induced cramps
  • Drug-induced myopathy (i.e. caffeine, zidovudine)

The role tubular aggregates play in these diseases is unclear.[5]

Last updated: 8/15/2014

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.[2][5] The exact cause of the condition is unknown. Sporadic and genetic forms have been reported.[2][3][4] Some cases appear to be due to dominant mutations in the STIM1 gene.[6]
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.[2][3][4][5]
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.[5]
Last updated: 8/15/2014

Do all patients with tubular aggregate myopathy have muscle pain?

No. While many do, not all people with tubular aggregate myopathy have muscle pain or cramps.[3]
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.[6]
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.[2]
Last updated: 8/15/2014

Who does tubular aggregate myopathy typically affect?

Due to the rarity of the condition, little is known about who is most commonly affected. Tubular aggregate myopathy has been diagnosed in infants, children, and adults. So far, most reported cases have been in Caucasians.[2][3][4][5] 
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.[6] 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

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 1/21/2014

Are there any clinical trials enrolling people with tubular aggregate myopathy?

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Currently, 1 clinical trial is identified as enrolling individuals with tubular aggregate myopathy. To find this study, click here. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study's contact information to learn more. Check this site often for regular updates.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if your son is eligible for any clinical trials.

Patient Recruitment and Public Liaison Office (PRPL)
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site:  http://clinicalcenter.nih.gov/

ClinicalTrials.gov provides a helpful guide of information about participating in a clinical trial. Resources for travel and lodging assistance are listed on the National Center for Advancing Translational Sciences Office of Rare Diseases Research (NCATS-ORDR) website, part of the National Institutes of Health (NIH).

In addition, there is a study titled "Study of Inherited Neurological Disorders" that is enrolling patients with myopathy. The study will examine the genetics, symptoms, disease progression, treatment, and psychological and behavioral impact of hereditary myopathies. To learn more about this trial, click on the title above. After you click on the title, review the studies "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more.
Last updated: 8/15/2014

References
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.