📂 Diseases
tubular aggregate myopathy — Definition
Tübüler agregat miyopatisi / tubular aggregate myopathy
Tubular agregat myopathy is a rare hereditary muscle disease, characterized by the accumulation of abnormal tubular structures in muscle cells. This disease, which often occurs during childhood or early adulthood, manifests itself with progressive muscle weakness, exercise intolerance and muscle cramps. The diagnosis is subject to the detection of tubular agregat with electron microscope in muscle biopsy and detection of mutations in STIM1 or ORAI1 genes with genetic tests. With no exact treatment of the disease, physical therapy and supporting approaches are applied to alleviate symptoms.
Frequently Asked Questions
❓ What is Tübüler agregat miyopatisi?
Tübüler agregat miyopatisi; tubular agregat myopathy is a rare hereditary muscle disease, characterized by the accumulation of abnormal tubular structures in muscle cells. This disease, which often occurs during childhood or early adulthood, manifests itself with progressive muscle weakness, exercise intolerance and muscle cramps. The diagnosis is subject to the detection of tubular agregat with electron microscope in muscle biopsy and detection of mutations in STIM1 or ORAI1 genes with genetic tests. With no exact treatment of the disease, physical therapy and supporting approaches are applied to alleviate symptoms.
❓ What is tubular aggregate myopathy in Turkish?
The Turkish equivalent of "tubular aggregate myopathy" is Tübüler agregat miyopatisi.
❓ Which medical field is Tübüler agregat miyopatisi related to?
This term belongs to the Diseases category.