Type of inheritance in Wilson’s disease –
Correct Answer: Autosomal recessive
Description: Wilson's disease is a genetic disorder in which copper builds up in the body. Symptoms are typically related to the brain and liver. Liver related symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, yellowish skin, and itchiness. Brain related symptoms include tremors, muscle stiffness, trouble speaking, personality changes, anxiety, and seeing or hearing things that others do not. Wilson's disease is an autosomal recessive condition due to a mutation in the Wilson disease protein (ATP7B) gene. For a person to be affected they must inherit an affected copy of the gene from each parent. Diagnosis may be difficult and often involves a combination of blood tests, urine tests, and a liver biopsy. Genetic testing may be used to screen family members of those affected
Category:
Pathology
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