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Condition report · Musculoskeletal

Tubular Aggregate Myopathy

A rare muscle condition causing weakness, cramps or muscle pain, named after the tube-like deposits seen in muscle under the microscope. It is caused by changes in one copy of the STIM1 or ORAI1 gene, which control calcium entry into cells.

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The condition we analyse

Autosomal dominant

Caused by a change in one copy of STIM1 or ORAI1, which together control store-operated calcium entry. Disease-causing changes are gain-of-function, letting too much calcium into cells.

Signs and symptoms

Muscle weakness, often in the legs, along with cramps or muscle pain, beginning in childhood. Some people have features of Stormorken syndrome, such as small pupils (miosis), a low platelet count with bleeding tendency, a small or absent spleen, scaly skin and short stature. Some people develop joint contractures.

What a diagnosis changes

Physiotherapy and neuromuscular follow-up, with checks of blood counts, spleen and eyes where Stormorken features may be present. Children of an affected person may inherit the change, so genetic counselling and family testing can be offered.

Genes analysed

Also known as

myopathy, tubular aggregate, 1; myopathy, tubular aggregate, type 1; TAM1

Includes 2 related subtypes ↓
  • myopathy, tubular aggregate, 1
  • myopathy, tubular aggregate, 2
MONDO:0008051Orphanet 2593MedGen 98050Sources: [1][2][3]

References

  1. Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M et al., 2021. Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation. Human mutation
  2. Tubular aggregate myopathy. MedlinePlus Genetics
  3. Stormorken syndrome. MedlinePlus Genetics

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