Overview
McLeod neuroacanthocytosis syndrome (also called McLeod syndrome) is a rare inherited disease that affects the brain, nervous system, blood, and heart. It is caused by changes in a gene called XK, which sits on the X chromosome. The disease gets its name from the McLeod blood type, a rare blood group that people with this condition carry. 'Neuroacanthocytosis' refers to two key features: nerve and brain problems ('neuro') and spiky-shaped red blood cells ('acanthocytosis') seen under a microscope. The disease mainly affects adult men, usually starting in their 30s or 40s. It causes a wide range of problems including involuntary movements, muscle weakness, difficulty swallowing, seizures, and changes in thinking and behavior. The heart can also be affected, with an irregular heartbeat being a serious concern. Because symptoms can look like other conditions such as Huntington's disease or psychiatric disorders, diagnosis is often delayed. There is currently no cure for McLeod syndrome. Treatment focuses on managing symptoms — for example, medications to reduce involuntary movements, control seizures, and treat heart rhythm problems. A pacemaker or defibrillator may be needed for heart complications. With careful management, many people can maintain quality of life for years, but the disease does slowly progress over time.
Also known as:
Key symptoms:
Involuntary, uncontrolled movements of the face, arms, or legs (chorea)Muscle weakness, especially in the legsDifficulty swallowing or speakingSeizuresIrregular heartbeat (arrhythmia) or enlarged heart (cardiomyopathy)Spiky-shaped red blood cells seen on a blood test (acanthocytosis)Elevated muscle enzyme levels in the blood (raised CK)Memory problems and difficulty thinking clearlyPersonality changes, depression, or anxietyObsessive-compulsive behaviorsNerve damage causing numbness or weakness (peripheral neuropathy)Difficulty walking or keeping balanceMuscle wasting over time
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for McLeod neuroacanthocytosis syndrome.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to McLeod neuroacanthocytosis syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing should I and my family members have, and what do the results mean for my relatives?,How often should I have heart monitoring, and do I need a pacemaker or defibrillator?,What medications are available to help with my involuntary movements, and what are the side effects?,Are there any clinical trials I might be eligible for?,What should I tell emergency doctors about my McLeod blood type if I ever need a blood transfusion?,What therapies — physical, occupational, or speech — would help me most right now?,How quickly is this condition likely to progress, and what signs should prompt me to come back sooner?
Common questions about McLeod neuroacanthocytosis syndrome
What is McLeod neuroacanthocytosis syndrome?
McLeod neuroacanthocytosis syndrome (also called McLeod syndrome) is a rare inherited disease that affects the brain, nervous system, blood, and heart. It is caused by changes in a gene called XK, which sits on the X chromosome. The disease gets its name from the McLeod blood type, a rare blood group that people with this condition carry. 'Neuroacanthocytosis' refers to two key features: nerve and brain problems ('neuro') and spiky-shaped red blood cells ('acanthocytosis') seen under a microscope. The disease mainly affects adult men, usually starting in their 30s or 40s. It causes a wide ran
How is McLeod neuroacanthocytosis syndrome inherited?
McLeod neuroacanthocytosis syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does McLeod neuroacanthocytosis syndrome typically begin?
Typical onset of McLeod neuroacanthocytosis syndrome is adult. Age of onset can vary across affected individuals.
Which specialists treat McLeod neuroacanthocytosis syndrome?
5 specialists and care centers treating McLeod neuroacanthocytosis syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.