Paula and Bobby
Parents of Lillie
Ceroid lipofuscinosis ( Wisniewski) - late, late infantile
What is Ceroid lipofuscinosis ( Wisniewski) - late, late infantile?
Ceroid lipofuscinosis ( Wisniewski) - late, late infantile is a rare disease. It is also known as Batten's disease - late, late infantile.
There is a suggestion of a further sub-division of late-infantile Batten's disease into one with an onset between 2.5-3.5 years. The onset is with ataxia and extrapyramidal features, followed by dementia and myoclonus. Visual problems develop between 5-6 years. The inclusions are curvilinear and `fingerprint' in shape, and the EEG, ERG, and VER findings are identical to that found in the more common late-infantile variety.
* This information is courtesy of the L M D.
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What gene changes cause Ceroid lipofuscinosis ( Wisniewski) - late, late infantile?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
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 Ceroid lipofuscinosis ( Wisniewski) - late, late infantile?
The typical symptoms of the syndrome are:
How does someone get tested for Ceroid lipofuscinosis ( Wisniewski) - late, late infantile?
The initial testing for Ceroid lipofuscinosis ( Wisniewski) - late, late infantile 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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