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Disease Profile

McLeod neuroacanthocytosis syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

G10

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

McLeod syndrome; X-linked McLeod syndrome

Categories

Blood Diseases; Congenital and Genetic Diseases; Heart Diseases;

Summary

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]

Symptoms

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.
https://www.ncbi.nlm.nih.gov/books/NBK1354/#mcleod.Clinical_Description

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    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. https://www.ncbi.nlm.nih.gov/books/NBK1354/#mcleod.Management

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Social Networking Websites

      • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

          In-Depth Information

          • 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.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss McLeod neuroacanthocytosis syndrome. Click on the link to view a sample search on this topic.

            References

            1. McLeod neuroacanthocytosis syndrome. Genetics Home Reference. May 2008; https://ghr.nlm.nih.gov/condition/mcleod-neuroacanthocytosis-syndrome. Accessed 7/15/2011.
            2. NINDS Neuroacanthocytosis Information Page. National Institute of Neurological Disorders and Stroke (NINDS). March 16, 2009; https://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm. Accessed 8/21/2015.

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