What are the other Names for this Condition? (Also known as/Synonyms)

• Deafness Hyperuricemia Neurologic Ataxia Disease

What is Deafness Hyperuricemia Neurologic Ataxia? (Definition/Background Information)

• Deafness Hyperuricemia Neurologic Ataxia is a rare genetic disorder characterized by elevated uric acid levels in blood, kidney malfunction, trouble with coordinated muscle movements and hearing loss

Who gets Deafness Hyperuricemia Neurologic Ataxia? (Age and Sex Distribution)

• Deafness Hyperuricemia Neurologic Ataxia is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Deafness Hyperuricemia Neurologic Ataxia? (Predisposing Factors)

• A positive family history may be an important risk factor, since Deafness Hyperuricemia Neurologic Ataxia can be inherited
• Currently, no risk factors have been clearly identified for the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Deafness Hyperuricemia Neurologic Ataxia? (Etiology)

• The exact underlying cause of Deafness Hyperuricemia Neurologic Ataxia is currently unknown. However, it is known that genetic factors contribute to the development of the disorder
• The pattern of inheritance is not known for Deafness Hyperuricemia Neurologic Ataxia

What are the Signs and Symptoms of Deafness Hyperuricemia Neurologic Ataxia?

The signs and symptoms of Deafness Hyperuricemia Neurologic Ataxia may include:

• Elevated levels of uric acid in blood
• Kidney malfunction
• Impaired ability to control voluntary movements
• Hearing loss

How is Deafness Hyperuricemia Neurologic Ataxia Diagnosed?

Deafness Hyperuricemia Neurologic Ataxia is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Deafness Hyperuricemia Neurologic Ataxia?

The complications of Deafness Hyperuricemia Neurologic Ataxia may include:

• Difficulty in movement, swallowing and speech, among other voluntary movements
• Possible falls and fall injuries
• Formation of kidney stones
• Kidney malfunction
• End-stage renal disease

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Deafness Hyperuricemia Neurologic Ataxia Treated?

There is no cure for Deafness Hyperuricemia Neurologic Ataxia, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Deafness Hyperuricemia Neurologic Ataxia be Prevented?

Deafness Hyperuricemia Neurologic Ataxia may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Deafness Hyperuricemia Neurologic Ataxia? (Outcomes/Resolutions) 

• The prognosis of Deafness Hyperuricemia Neurologic Ataxia is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Deafness Hyperuricemia Neurologic Ataxia:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/