McLeod syndrome

McLeod syndrome is a rare, X-linked, neuroacanthocytosis syndrome characterized by abnormalities in the neurological system, blood and muscles. The syndrome is named after the geneticist who first described it, Dr. K.B. McLeod.

Symptoms and Signs

The symptoms of McLeod syndrome can vary greatly from person to person. Some of the most common symptoms include:

• Peripheral neuropathy
• Muscle weakness
• Muscle atrophy
• Chorea (involuntary, rapid, jerky movements)
• Psychiatric disorders
• Cardiomyopathy (disease of the heart muscle)
• Hemolysis (breakdown of red blood cells)

Causes

McLeod syndrome is caused by mutations in the XK gene. This gene provides instructions for making a protein that is part of the Kell complex, a group of proteins that reside on the surface of red blood cells. The Kell complex plays a role in maintaining the structure and function of red blood cells.

Diagnosis

Diagnosis of McLeod syndrome is based on the presence of characteristic clinical findings, specialized laboratory testing, and molecular genetic testing.

Treatment

There is currently no cure for McLeod syndrome. Treatment is symptomatic and supportive, and may include medications to manage chorea and psychiatric symptoms, physical therapy to help with muscle weakness and atrophy, and regular monitoring for heart disease.

See also

• Neuroacanthocytosis
• Chorea
• Cardiomyopathy
• Hemolysis
• Peripheral neuropathy

References

McLeod syndrome Resources
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