Common Indicators Of McLeod Syndrome

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.

Cardiomyopathy

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.

Keep reading to reveal more common symptoms of McLeod syndrome now.

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.

Get more details on McLeod syndrome symptoms now.