The topic Autosomal Dominant MYH9 Spectrum Disorders you are seeking is a synonym, or alternative name, or is closely related to the medical condition MYH9-Related Disorder.

Quick Summary:

• MYH9-Related Disorder (MYH9RD) is a rare genetic disorder that is caused by mutation(s) in the MYH9 gene, which codes for myosin-9 protein
• When the myosin protein is dysfunctional due to the mutations, immature platelets (giant platelets) are released in blood. It also causes the formation of aggregates in leukocytes, a type of white blood cells resulting in abnormal bleeding disorders
• Due to these defects, the affected individuals exhibit symptoms, such as easy bruising, profuse bleeding even with small cuts, menorrhagia in women, excessive bleeding during surgery or childbirth, and including kidney malfunction, hearing loss, and cataracts
• Over 65% of the individuals affected by this disorder inherit MYH9-Related Disorder in an autosomal dominant pattern, from an affected parent. The presence of one defective gene copy is sufficient to cause the disorder
• A diagnosis of MYH9-Related Disorder typically involves checking for inclusion bodies in leukocytes, which are present in all individuals with the condition. Additional tests for genetic confirmation may be required. Tests to diagnose and evaluate other associated symptoms may also be necessary
• Treatment for MYH9-Related Disorder is usually geared toward addressing any bleeding conditions. Other treatment measures are targeted towards treating the kidney disorders, surgery for cataracts, and hearing aids or cochlear implants for hearing abnormalities associated with MYH9RD
• Several methods are reported to reduce or mitigate symptoms of MYH9-Related Disorder, particularly with respect to bleeding. Avoiding aspirin, taking medications to improve platelet count, platelets transfusion before surgery or childbirth, and periodic testing to avoid anemia, are a few preventive methods to arrest any excessive bleeding
• The prognosis of MYH9-Related Disorder depends upon the severity of the signs and symptoms. The condition does not reduce the life-expectancy of those affected. However, progressive kidney disease and hearing loss can severely affect the quality of life in individuals with MYH9-Related Disorder

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