McLeod neuroacanthocytosis syndrome

What is McLeod neuroacanthocytosis syndrome?

McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in males. Only about 150 cases have been reported worldwide. This condition affects movement in many parts of the body. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of disorders called neuroacanthocytoses that involve neurological problems and abnormal red blood cells. McLeod neuroacanthocytosis syndrome is inherited in an X-linked recessive fashion and is caused by mutations in the XK gene.

Last updated on 05-01-20

How can I learn about research involving McLeod neuroacanthocytosis syndrome?

The National Heart, Lung, and Blood Institute (NHLB) has completed a clinical trial entitled "Heart and Skeletal Muscle Problems in Neuroacanthocytosis" ( identifier: NCT00007228, Other study ID numbers: 010052, 01-H-0052). The purpose of this study was to learn about heart and skeletal muscle problems related to neuroacanthocytosis. Through this study, the researchers may have discovered information pertinent to your particular case. Further information about this study can be accessed through, a database developed by the U.S. National Institutes of Health, through the National Library of Medicine to provide patients, family members, and members of the public with current information on clinical research studies. To read about this study, visit the hyperlink below. After you click on the study, review its information to determine if it provides you with useful information. Check this site often for regular updates.

To locate information resulting from this study, you can either e-mail or call the National Library of Medicine (NLM) Customer Service. Include the title of the study, the study ID number, and the NLM Identifier, and a librarian at NLM can assist you in searching the medical literature for published results on the completed clinical trial.

National Library of Medicine Customer Service
Toll-free: 888-346-3656

Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.

GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.

WE MOVE is a comprehensive resource for information on movement disorders. On their Web site, you can sign up to receive their free newsletter via e-mail regarding current information and research on dystonia, essential tremor, and other movement disorders. Click on the link below to view this Web page:

Last updated on 05-01-20

How might McLeod neuroacanthocytosis syndrome be treated?

There are currently no treatments to prevent or slow the progression of McLeod neuroacanthocytosis syndrome and treatment is symptomatic and supportive. Medications that block dopamine, such as some of the antipsychotics, may decrease the involuntary movements. Botulinum toxin injections usually improve symptoms of dystonia. A feeding tube may be needed for individuals with feeding difficulties to maintain proper nutrition. Seizures may be treated with a variety of anticonvulsants, and antidepressants may also be appropriate for some individuals. Speech, occupational, and physical therapy may also be beneficial.

For a comprehensive review of treatment for McLeod neuroacanthocytosis, you can visit GeneReviews at the following link.

Last updated on 05-01-20

Name: Advocacy for Neuroacanthocytosis Patients 32 Launceston Place London W8 5RN
Phone: +44 (0) 20 7937 2938 Email: Url:

Connect with other users with McLeod neuroacanthocytosis syndrome on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App