Ataxia-pancytopenia syndrome
Ataxia-pancytopenia Syndrome
Ataxia-pancytopenia Syndrome (pronounced: a-tax-ia-pan-cyto-penia syndrome) is a rare genetic disorder characterized by ataxia, pancytopenia, and myelodysplasia. The term "ataxia" refers to a lack of muscle control or coordination, while "pancytopenia" refers to a reduction in the number of all types of blood cells. "Myelodysplasia" refers to a group of conditions in which the blood cells are abnormal in development.
Etymology
The term "Ataxia-pancytopenia Syndrome" is derived from three Greek words: "a" meaning without, "taxia" meaning order, "pan" meaning all, "cyto" meaning cell, and "penia" meaning deficiency. Thus, the term literally means "without order, all cell deficiency syndrome".
Symptoms
The symptoms of Ataxia-pancytopenia Syndrome include ataxia, pancytopenia, myelodysplasia, and immunodeficiency. These symptoms can lead to a variety of health problems, including frequent infections, anemia, and an increased risk of leukemia.
Causes
Ataxia-pancytopenia Syndrome is caused by mutations in the SAMHD1 gene. This gene provides instructions for making a protein that helps regulate the amount of DNA in cells. Mutations in the SAMHD1 gene disrupt this regulation, leading to the symptoms of Ataxia-pancytopenia Syndrome.
Treatment
Treatment for Ataxia-pancytopenia Syndrome is focused on managing the symptoms. This may include physical therapy for ataxia, blood transfusions for pancytopenia, and medications to manage myelodysplasia.
Related Terms
External links
- Medical encyclopedia article on Ataxia-pancytopenia syndrome
- Wikipedia's article - Ataxia-pancytopenia syndrome
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