Paula and Bobby
Parents of Lillie
Benign, recurrent sixth nerve palsy.
What is Benign, recurrent sixth nerve palsy.?
Benign, recurrent sixth nerve palsy. is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Most children who acquire a sixth nerve palsy have it as an ominous sign of tumour, hydrocephalus or infection and its presence needs to be taken seriously. There is however a group of child who acquire a 6th nerve pasy which remits spontaneously only to recur and remit again. Six children were reported by Boger etal., (1994). All were sporadic.
* This information is courtesy of the L M D.
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What gene changes cause Benign, recurrent sixth nerve palsy.?
The syndrome is inherited in the following inheritance pattern/s:
Sporadic - In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Benign, recurrent sixth nerve palsy.?
The typical symptoms of the syndrome are:
How does someone get tested for Benign, recurrent sixth nerve palsy.?
The initial testing for Benign, recurrent sixth nerve palsy. can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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