The symptoms currently range from the majority who only need to walk with aids, from a stick to a walking frame, to total dependence on physical mobility aids such as wheelchairs and stand aids, but this latter variety is so rare that only two cases are known to the CNM "community". Approximately 80% of males with a diagnosis of myotubular myopathy by muscle biopsy will have a mutation in MTM1 identifiable by genetic sequence analysis.Many patients with myotubular myopathy die in infancy prior to receiving a formal diagnosis. When possible, muscle biopsy and genetic testing may still be helpful even after a neonatal death, since the diagnostic information can assist with family planning and genetic counseling as well as aiding in the accurate diagnosis of any relatives who might also have the same genetic abnormality. History
In 1966, Dr. Spiro (a New York City neurologist) published a medical report of a boy with myopathy, which upon muscle biopsy, showed that the nuclei of the muscle cells were located in the center of the muscle cells, instead of their normal location of the periphery. The nuclear appearance reminded him of the nucleus-in-the-center appearance during the "myotubular" stage of embryonic development. Thus, he coined the term "myotubular myopathy". Spiro speculated that the embryonic muscle development he had seen in the boy was due to growth arrest during the myotubular phase, causing the myopathy.More than three decades later, it is not fully understood whether this theory regarding halted (or delayed) embryonic muscle development is correct.
of women without a history of reproductive problems found that about 5% of women had an arcuate uterus when they defined an arcuate uterus any fundal protrusion into the cavity that had an apical angle of more than 90 degrees. Accordingly, it was the most common uterine anomaly, followed by septate uterus (3%) and bicornuate uterus (0.5%). References


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