Centronuclear myopathy
Centronuclear Myopathy
Centronuclear Myopathy (pronounced: sen-tro-nu-klee-er my-op-a-thy) is a rare genetic disorder characterized by muscle weakness ranging from mild to severe. The term "centronuclear" refers to the central location of the cell nucleus in muscle fibers, which is a key characteristic of this condition.
Etymology
The term "Centronuclear Myopathy" is derived from the Greek words "kentron" meaning center, "nukleus" meaning nucleus, and "myo" meaning muscle, and "pathos" meaning suffering. Thus, it literally translates to "muscle suffering due to a central nucleus".
Symptoms
The symptoms of Centronuclear Myopathy include muscle weakness, decreased muscle tone (Hypotonia), and difficulties with movement. In severe cases, individuals may require respiratory support due to weakness of the muscles involved in breathing.
Causes
Centronuclear Myopathy is caused by mutations in the DNM2, BIN1, RYR1, and MTM1 genes. These genes are involved in the development and function of muscle cells. Mutations in these genes disrupt the normal functioning of muscle cells, leading to the symptoms of Centronuclear Myopathy.
Diagnosis
Diagnosis of Centronuclear Myopathy is based on clinical examination, family history, and confirmed by genetic testing. Muscle biopsy may also be performed, where the central location of the cell nucleus in muscle fibers can be observed, a characteristic feature of this condition.
Treatment
There is currently no cure for Centronuclear Myopathy. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy, respiratory support, and management of any associated complications.
Related Terms
External links
- Medical encyclopedia article on Centronuclear myopathy
- Wikipedia's article - Centronuclear myopathy
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