Myopathy, Myotubular
Myopathy, Myotubular Causes
Myotubular myopathy is considered a congenital myopathy because it is typically present at birth. Other centronuclear myopathies may appear later in life.
Myopathy, Myotubular Definition
Myotubular Myopathy is the most common form of Centronucleara myopathies, in which the cell nuclei are located at a position in the center of the skeletal muscle cells, instead of their normal location at the periphery.
Myopathy, Myotubular Diagnosis
A neurologist coordinates the diagnostic test done on a patient with myotubalr myopathy. Genetic testing is required because muscle biopsy analysis is not reliable to determine the condition. Even after a patient's death due to the condition, information from muscle biopsy and genetic testing can help the affected family with family planning and genetic counseling. The information would also guide in the accurate diagnosis of relatives carrying the abnormal gene.
Myopathy, Myotubular Symptoms and Signs
Patients suffering from Centronuclear myopathies experience severe hypotonia, hypoxia-requiring breathing assistance, and scaphocephaly. Persons with the condition may also have high arched palate, long digits, bell shaped chest, or long face. Myotubular myopathy only affects muscles without any impact on intelligence. But some children have suffered cardiac arrest due to possible added stress on the heart.
Myopathy, Myotubular Treatment
At present, myotubular or centronuclear myopathies have no cure. Specialists often focus on maximizing functional abilities and minimizing medical complications.