The following information may help to address your question:
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
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