Living with McLeod neuroacanthocytosis syndrome
A nervous system condition, mostly in males, with involuntary movements and unusual red blood cells.
Understanding McLeod neuroacanthocytosis syndrome
It affects movement. People have star-shaped red blood cells (acanthocytosis), jerking movements (chorea), muscle tensing (dystonia), and sometimes seizures. They may have trouble with thinking and mood, muscle weakness, and nerve problems in the arms and legs. Heart rhythm problems and weakened heart muscle are common. It starts in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Jerking movements (chorea)
- Muscle tensing (dystonia)
- Star-shaped red blood cells (acanthocytosis)
- Seizures
- Muscle weakness (myopathy)
- Slurred speech (dysarthria)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in XK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Neuroacanthocytosis Advocacy USA and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the XK gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: blood group deletion syndrome; mclds; mcleod phenotype; mcleod syndrome; mcleod syndrome with or without chronic granulomatous disease; mls
Patient organizations
- Neuroacanthocytosis Advocacy USAMcLeod neuroacanthocytosis syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with McLeod neuroacanthocytosis syndrome.
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