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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tubular aggregate myopathy


Other Names for this Disease
  • Myopathy, tubular aggregate
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Symptoms


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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.
Last updated: 10/26/2011

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.[1] The second type of tubular aggregate myopathy is characterized by isolated, slowly progressive weakness of the proximal muscles.[1] The third type is characterized by progressive proximal weakness and sometimes fatigability. In this type the serum creatine kinase levels are often elevated.[1]
Last updated: 10/26/2011

References
  1. Chevessier F et al. Tthe origin of tubular aggregates in human myopathies. J Pathol. 2005;
  2. Gilchrist JM, Ambler M, Agatiello P. Steroid-responsive tubular aggregate myopathy. Muscle & Nerve. 1991;
  3. Kim NR, Suh YL. Tubular aggregate myopathy: A case report. J Korean Med Sci. 2003;
  4. Pandit L, Narayanappa G, Bhat I, Thomas V. Case study: Autosomal recessive tubular aggregate myopathy in an Indian family. European Journal of Paediatric Neurology. 2008;