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

• Deafness Peripheral Neuropathy Arterial Disease

What is Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease? (Definition/Background Information)

• Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease is a group of disorders characterized by skin rashes, sensorineural deafness (begins early in life), peripheral arterial disease, peripheral neuropathy, increased levels of protein and cells in the spinal fluid, papilledema and headache
• This condition was described in the scientific literature as “familial toxoplasmosis”

Who gets Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease? (Age and Sex Distribution)

• Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease is a rare congenital disorder. The presentation of symptoms may occur following birth of the child
• Both males and females may be affected
• The exact prevalence and frequency of occurrence of this condition is not known at the present time

What are the Risk Factors for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease? (Predisposing Factors)

• A positive family history can be an important risk factor, since Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease may be inherited
• Currently, no other 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, Sensorineural, with Peripheral Neuropathy and Arterial Disease? (Etiology)

• The exact underlying cause of Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease
• It may be a genetic disorder, although the mode of inheritance is currently unknown

What are the Signs and Symptoms of Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease?

The signs and symptoms of Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease may include:

• Early-onset loss of hearing (sensorineural deafness)
• Skin rashes
• Peripheral arterial disease, causing restricted blood flow to the limbs, leading to
  • Pain
  • Gangrene after a small dose of ergotamine (a drug that causes restriction of blood vessels, and used for severe headaches such as migraines)
• Peripheral neuropathy
  • Generalized pain in the body (e.g. muscle spasm)
  • Bone abnormality
  • Changes present along the skin, nails, and hair
  • Loss of sensation (say, in the hands and feet)
  • Loss of coordination and balance
  • Unable to respond to emotional inputs
  • Having trouble with sleep
  • Heart-related abnormalities that may lead to a heart attack
  • Difficulty in controlling urination
  • Stomach-related signs and symptoms that include vomiting and diarrhea
  • Loss of appetite
• Increased levels of spinal fluid protein and cells
• Papilledema
  • Headaches
  • Changes in vision, which may be temporary
  • Nausea
  • Vomiting
• Contracted retinal arteries

How is Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease Diagnosed?

Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 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, Sensorineural, with Peripheral Neuropathy and Arterial Disease?

The complications of Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease may include:

• Complete loss of hearing
• Problems with vision
• Loss of sensation in the body (such as in the outer limbs)
• Developing infections owing to being unaware of the injuries, due to loss of sensation

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

How is Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease Treated?

There is no cure for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease. The treatment is usually given to manage the signs and symptoms and any complication that may develop.

How can Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease be Prevented?

Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease may not be preventable, since it may be a genetic disorder. If there is a history of the condition in the family:

• 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
• 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, Sensorineural, with Peripheral Neuropathy and Arterial Disease? (Outcomes/Resolutions)

• The prognosis of Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 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, Sensorineural, with Peripheral Neuropathy and Arterial Disease:

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

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