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McLeod neuroacanthocytosis syndrome


Other Names for this Disease

  • McLeod syndrome
  • X-linked McLeod syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have McLeod neuroacanthocytosis syndrome. I developed symptoms around age 14. What is the current treatment? I would also be interested in finding people doing research on this condition. I have ticks but I also have muscles that become tight and I believe this has something to do with the movements my body does without control. Is this typical? I also have complex seizures and grand mal seizures from this illness. Is this common? Also, my left side of my body only seems to be affected by loss of feeling or it has intense pain. I also cannot feel hot and cold in most of my body.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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.[1]
Last updated: 7/15/2011

What are the signs and symptoms of McLeod neuroacanthocytosis syndrome?

The signs and symptoms of McLeod neuroacanthocytosis syndrome include muscle weakness (myopathy); muscle degeneration (atrophy); and involuntary jerking movements (chorea), particularly of the arms and legs. People with this condition may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy). Involuntary tensing of muscles (dystonia) in the face and throat can cause grimacing and vocal tics (such as grunting and clicking noises). About half of all people with McLeod neuroacanthocytosis syndrome have seizures. Individuals with this condition may develop difficulty processing, learning, and remembering information (cognitive impairment). Heart problems such as irregular heartbeats (arrhythmia) and a weakened and enlarged heart (dilated cardiomyopathy) are also frequently seen in individuals with this condition.[1]

The signs and symptoms of McLeod neuroacanthocytosis syndrome usually begin in mid-adulthood. Behavioral changes, such as lack of self-restraint, the inability to take care of oneself, anxiety, depression, and changes in personality may be the first signs of this condition. While these behavioral changes are typically not progressive, the movement problems and intellectual impairments that are characteristic of this condition tend to worsen with age.[1]

For a comprehensive review of the signs and symptoms of McLeod neuroacanthocytosis, you can visit GeneReviews at the following link. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
http://www.ncbi.nlm.nih.gov/books/NBK1354/#mcleod.Clinical_Description
Last updated: 7/15/2011

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.[2]

For a comprehensive review of treatment for McLeod neuroacanthocytosis, you can visit GeneReviews at the following link. http://www.ncbi.nlm.nih.gov/books/NBK1354/#mcleod.Management
Last updated: 7/15/2011

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" (ClinicalTrials.gov 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 ClinicalTrials.gov, 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.
http://clinicaltrials.gov/ct2/show/NCT00007228

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
E-mail: custserv@nlm.nih.gov

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:
http://www.wemove.org/stayconnected/
Last updated: 7/15/2011

References
Other Names for this Disease
  • McLeod syndrome
  • X-linked McLeod syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.