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McLeod neuroacanthocytosis syndrome


Other Names for this Disease
  • McLeod syndrome
  • X-linked McLeod syndrome
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Overview



What is McLeod neuroacanthocytosis syndrome?

What are the signs and symptoms of McLeod neuroacanthocytosis syndrome?

How might McLeod neuroacanthocytosis syndrome be treated?


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

References
  1. McLeod neuroacanthocytosis syndrome. Genetics Home Reference. May 2008; http://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 2009; http://www.ninds.nih.gov/disorders/neuroacanthocytosis/neuroacanthocytosis.htm. Accessed 7/15/2011.