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McLeod neuroacanthocytosis syndrome

Other Names for this Disease
  • McLeod syndrome
  • X-linked McLeod syndrome
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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.
Last updated: 7/15/2011

  1. McLeod neuroacanthocytosis syndrome. Genetics Home Reference. May 2008; Accessed 7/15/2011.