McLeod syndrome or McLeod neuroacanthocytosis syndrome is extremely rare, with only about 150 reported cases worldwide. The condition develops mostly in boys and men and affects many parts of the body, including the red blood cells. When the blood cell abnormalities were first discovered, researchers believed they were of no significance other than blood-product phenotyping. Newer studies show, however, that over time people with McLeod syndrome may develop significant neurological, hematological, and muscular problems.
McLeod syndrome affects the brain and spinal cord, causing significant motor issues. Individuals with the condition may experience involuntary movements such as jerking of the arms and legs, muscle tensing in the face and throat leading to vocal tics and grimacing, and dystonia of the tongue that makes swallowing difficult. Muscle weakness and atrophy can also occur, possibly due to nerve degeneration, leading to arrhythmias and an enlarged heart.
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