MVSESA SP is an abbreviation that stands for "Myoglobinuria, Recurrent, Autosomal Recessive, with External Ophthalmoplegia, Scapular Retraction, and Respiratory Failure". It is a rare genetic disorder characterized by a combination of symptoms including myoglobinuria, recurrent episodes of muscle breakdown, external ophthalmoplegia, scapular retraction, and respiratory failure.
Myoglobinuria refers to the presence of myoglobin, a protein found in muscles, in the urine. This occurs when muscle fibers are damaged, often as a result of intense exercise or metabolic abnormalities. Recurrent episodes of muscle breakdown lead to muscle weakness and fatigue.
External ophthalmoplegia refers to the paralysis or weakness of eye muscles, causing difficulty in moving the eyes and affecting vision. This can result in impaired eye coordination and limited eye movements.
Scapular retraction refers to the abnormal inward pulling or retraction of the shoulders. This can lead to postural abnormalities and limited range of motion in the upper body.
Respiratory failure refers to the inability of the respiratory system to meet the oxygen demands of the body. This can occur due to muscle weakness affecting the chest muscles and diaphragm, resulting in compromised breathing function.
MVSESA SP is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Due to the rarity of this disorder, further research and genetic testing may be necessary to fully understand its underlying causes, mechanisms, and potential treatment options.
