Tubular aggregate myopathy

Tubular aggregate myopathy is a disorder that primarily affects the skeletal muscles, which are muscles the body uses for movement. This disorder causes muscle pain, cramping, or weakness that begins in childhood and worsens over time. The muscles of the ...1

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Symptoms of Tubular aggregate myopathy

Symptoms: The signs and symptoms of tubular aggregate myopathy (TAM) can vary from person to person. Symptoms typically begin in childhood or adolescence and worsen over time.[1, 4] However, onset in adulthood has been reported.[4] The leg muscles ...2

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Causes of Tubular aggregate myopathy

Cause: Tubular aggregate myopathy (TAM) may be caused by mutations in the STIM1 or ORAI1 genes.[4, 5] The STIM1 gene gives the body instructions to make a protein involved in controlling when calcium ions enter cells. The protein recognizes ...3

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Types of Tubular aggregate myopathy

Some types of this condition may include:4 Types of tubular aggregate myopathy:

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Diagnosis of Tubular aggregate myopathy

Diagnosis: Currently, the diagnosis of tubular aggregate myopathy (TAM) is made by identifying tubular aggregates in a muscle biopsy (the "hallmark" of TAM).[9] Tubular aggregates are clumps of tube-like structures formed by the abnormal build-up of proteins ...5

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Genetics of Tubular aggregate myopathy

Genetic Changes: Tubular aggregate myopathy can be caused by mutations in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when ...6

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Treatments: Tubular aggregate myopathy

Treatment: Currently, we are unaware of any targeted therapies for tubular aggregate myopathy. There is very limited information in the medical literature regarding the treatment or management of this condition. Supportive therapies may be recommended depending on the severity of ...7

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)8 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ tubular-aggregate-myopathy
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 3884/ tubular-aggregate-myopathy
  3. ibid.
  4. Source: NCI Thesaurus
  5. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 3884/ tubular-aggregate-myopathy
  6. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ tubular-aggregate-myopathy
  7. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 3884/ tubular-aggregate-myopathy
  8. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ tubular-aggregate-myopathy

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