Tubular aggregate myopathy
Other Names for this Disease
- Myopathy, tubular aggregate
Your QuestionWhat is tubular aggregate myopathy?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is a myopathy?
- What are tubular aggregates?
- What is tubular aggregate myopathy?
- What are the symptoms of tubular aggregate myopathy?
- Are there different types of tubular aggregate myopathy?
- Do all patients with tubular aggregate myopathy have muscle pain?
- What causes tubular aggregate myopathy?
- What is the typical prognosis (chance for recovery) of people with tubular aggregate myopathy?
- Who does tubular aggregate myopathy typically affect?
- Is tubular aggregate myopathy genetic?
- How can I find a genetics professional in my area?
- Are there any clinical trials enrolling people with tubular aggregate myopathy?
Hypokalemic periodic paralysis
Facioscapulohumeral dystrophy with aminoaciduria
Drug-induced myopathy (i.e. caffeine, zidovudine)
The role tubular aggregates play in these diseases is unclear.
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:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
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
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.
- Tubular Aggregate Myopathy. Online Mendelian Inheritance in Man (OMIM). July 18, 2014; http://omim.org/entry/160565. Accessed 8/15/2014.
- 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.
- 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.
- 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.
- 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.
- 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.