Common Indicators Of McLeod Syndrome

May 7, 2024

McLeod syndrome is a genetic disorder that can affect an individual's brain, muscles, blood, peripheral nerves, and heart. It is an X-linked genetic disorder caused by mutations in the XK gene, which result in an abnormal or absent production of the XK protein. This disorder is only symptomatic in males because it is a recessive mutation in the X chromosome. While a female with one of their two X chromosomes containing the mutation will be a carrier of the disorder, a male's single X chromosome containing the mutation will cause them to have McLeod syndrome. Diagnosis is usually made when the individual approaches fifty years old, and is typically made with medical imaging tests and genetic testing. There is no known way to slow or prevent the progression of this disorder. McLeod syndrome treatment is based on the individual's expression of symptoms. There are several distinctive indicators of McLeod syndrome. Learn about them now.


The presence of cardiomyopathy is an indicator of McLeod syndrome that separates it from other similar X-linked genetic disorders. The exact mechanism of how the genetic mutation of the XK gene causes cardiac problems is not clear, but it may have to do with specific affected blood antigens. Many diseases of the heart muscle can be referred to as cardiomyopathy. The most common form of cardiomyopathy seen in McLeod syndrome patients is called dilated cardiomyopathy. In the dilated form of cardiomyopathy, both or one of the ventricles in the patient's heart become abnormally enlarged or widened. The pumping action of the individual's heart becomes weakened from the abnormal heart structure. The weakened pumping action causes a hampered ability to pump enough blood around to the rest of the patient's body and their lungs. Eventually, dilated cardiomyopathy will result in fluid accumulation in the lungs, heart, and other body tissues. A buildup of fluid in the body tissues is a hallmark indication the patient has congestive heart failure.

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Limb Chorea

McLeod syndrome often manifests in affected individuals with a symptom called limb chorea. Chorea is a movement disorder characterized by unpredictable, brief, semi-directed, and involuntary movements of certain parts of an individual's body. It is considered to be a hyperkinetic movement disorder because chorea occurs without any conscious effort on the patient's part. The type of chorea that happens in individuals affected by McLeod syndrome manifests as irregular leg and arm movements, abnormal pelvic thrusts, and spastic shoulder shrugs. These movements are not rhythmic or repetitive in nature, but they do have an underlying mechanism that allows them to flow from one muscle to the next one. Limb chorea is a slow occurring and progressive disorder that ultimately has adverse effects on the patient's ability to walk and stand properly. More severe cases of individuals affected by limb chorea can cause slight movements or ticks to progress into uncontrollable thrashing motions of the limbs.

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Peripheral Neuropathy

Most individuals affected by McLeod syndrome develop some degree of peripheral neuropathy. Peripheral neuropathy is an umbrella term encompassing a range of conditions that happen when certain nerves in an individual's body are damaged or diseased. These nerves include those that transmit signals from the rest of the body to the spinal cord and brain, as well as those that transmit signals from the brain and spinal cord back to the rest of the body. The peripheral nerves create a complex network that attaches the spinal cord and brain to the internal organs, muscles, and skin. The most common manifestations of peripheral neuropathy in McLeod syndrome patients are feelings of numbness, tingling, loss of sensation in arms and legs, and a burning sensation in the hands or feet. This type of neuropathy can have adverse effects on the nerves that control the movement of muscles or the motor nerves as well as the sensory nerves or the nerves responsible for detecting sensations of pain and temperature changes.

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Hemolytic Anemia

A common symptom of McLeod syndrome is hemolytic anemia, which is a disorder where an individual's red blood cells are destroyed at a faster rate than their body is able to replenish them. The mutation that causes an absence of the Kx antigen in McLeod syndrome patients results in the weak expression of kell antigens. Without kell antigens, abnormally shaped red blood cells or acanthocytes will form in the patient's bloodstream. Acanthocytes or spur cells are red blood cells that feature spiky projections of variable surface distribution and sizes. These spur cells tend to accumulate in the blood and crowd out healthy red blood cells in McLeod syndrome patients. In addition, these spur cells die off quicker than healthy red blood cells and have to be filtered from the blood by the spleen. The dead spur cells can accumulate in the spleen and cause it to swell or rupture. The fast rate of abnormal red blood cell apoptosis or death causes the affected individual's body to fall behind in healthy red blood cell production. When there are not enough healthy functioning red blood cells in circulation, the tissues around the body will not receive adequate oxygen delivery.

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Late-Onset Dementia

Late-onset dementia is a cognitive disease that occurs in individuals who are sixty-five years old or older. This disease can be a symptom of McLeod syndrome due to the effects the disorder has on the patient's brain and nerves. This type of dementia can cause the individual to have memory loss and problems processing new information or learning. This disease also causes the patient to have a reduced ability to manage everyday responsibilities, activities, and tasks on their own. Dementia also compromises an individual's ability to mentally reason and socialize with others normally. Dementia patients lose their ability to communicate effectively with others, first through language and later through gestures. They also have progressive difficulty with visual perception. The symptom of late-onset dementia occurs when the patient's McLeod syndrome has reached its advanced stages. While the exact mechanism is not clear, the degeneration of nerve cells in the brain that cause late-onset dementia is closely related to the affected individual's absence of the XK protein.

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