McLeod syndrome is a genetic, neurological condition caused by genetic changes in the XK gene on the X chromosome. McLeod syndrome mainly affects males. McLeod syndrome is characterised by:

• movement disorders such as chorea (uncontrolled jerky movement that resembles dancing or fidgeting) and dystonia (uncontrolled muscle tensing)
• muscle weakness and degeneration
• impaired speech, difficulty swallowing (caused by uncontrolled muscles around the face and mouth)
• seizures
• cognitive impairment such as memory loss, difficulty learning
• behavioural changes
• abnormal star-shaped red blood cells (acanthocytes) and absence of red blood cell Kx antigen

This condition can also affect multiple parts of the body including the heart, liver, and spleen.

McLeod syndrome is a type of neuroacanthocytosis. Neuroacanthocytosis refers to a group of conditions characterised by presence of acanthocytes, and neurological symptoms ranging from movement disorders, neurocognitive decline, and psychiatric symptoms.

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.

Synonyms: McLeod neuroacanthocytosis syndrome, XK disease, MLS, X-linked McLeod syndrome.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:59306 McLeod neuroacanthocytosis syndrome

ICD-11: 3A10.Y Other specified hereditary haemolytic anaemia

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Please speak to your medical team to learn more about the symptoms of this condition.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

McLeod syndrome is a genetic condition. It is caused by disease-causing genetic changes (variants) in the XK gene on the X chromosome (sex chromosome).

McLeod syndrome is inherited in an X-linked recessive pattern. As males only have one X chromosome, they have one copy of the XK gene, so if their XK gene has the disease-causing genetic variant, they will have McLeod syndrome. Females have two X chromosomes and two copies of XK genes. Both copies of the genes must have the variants to cause McLeod syndrome. Females with variant in only one XK gene copy usually have mild or no symptoms. More information on X-linked inheritance pattern can be found at Centre for Genetics Education: X-linked inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Healthcare professionals involved in the care of people with McLeod syndrome may include general practitioners (GP), neurologists, psychiatrists, neuropsychologists, ophthalmologists, cardiologists, physiotherapists, occupational therapists, speech pathologists, genetic counsellors and clinical geneticists. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

If you know of any relevant care guidelines, please let us know via the Contribute page.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries. For more information, please visit the RARE Portal’s Considerations for Participating in Health and Medical Research page.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in research, including clinical trials,  with your medical team to determine suitability and eligibility.

We are not aware of any rare disease organisations specifically for McLeod syndrome in Australia or internationally. If you know of any organisation, please let us know via the Contribute page. If you are interested in starting an Australian organisation, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.

The following organisations provide support for people living with neuroacanthocytosis:
International Organisation: 
Advocacy for Neuroacanthocytosis Patients (United Kingdom)
Website: https://naadvocacy.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

McLeod syndrome vary between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on McLeod syndrome can be found at:

• Genetic and Rare Diseases (GARD) Information Center: McLeod syndrome
• National Organization for Rare Disorders (NORD): Neuroacanthocytosis
• MedlinePlus: McLeod neuroacanthocytosis syndrome

GeneReviews®: McLeod Neuroacanthocytosis Syndrome

Online Mendelian Inheritance in Man, OMIM®: #300842 McLeod syndrome; MCLDS

ORPHA:59306 McLeod neuroacanthocytosis syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team. If you would like to see more information added to this page, please reach out via the Contact form. If you would like to share relevant resources for this condition, please visit the Contribute page.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.