McLeod syndrome

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McLeod syndrome
X-linked recessive.svg
Synonyms McLeod neuroacanthocytosis syndrome
Pronounce N/A
Specialty Neurology, Hematology
Symptoms Chorea, seizures, peripheral neuropathy, cardiomyopathy, muscle weakness, cognitive impairment
Complications N/A
Onset Typically in adulthood
Duration Chronic
Types N/A
Causes Mutations in the XK gene
Risks Male sex (due to X-linked inheritance)
Diagnosis Genetic testing, blood test
Differential diagnosis Huntington's disease, other neuroacanthocytosis syndromes
Prevention N/A
Treatment Symptomatic treatment, physical therapy, speech therapy
Medication N/A
Prognosis Progressive
Frequency Rare
Deaths N/A


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[edit | edit source]

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

Causes[edit | edit source]

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[edit | edit source]

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

Treatment[edit | edit source]

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[edit | edit source]

References[edit | edit source]

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Contributors: Prab R. Tumpati, MD