Paula and Bobby
Parents of Lillie
Amyotrophic Dystonic Paraplegia
What is Amyotrophic Dystonic Paraplegia?
Amyotrophic Dystonic Paraplegia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Most families in this category have the combination of pyramidal and extrapyramidal features inherited as an autosomal dominant. Three generations were described by Dick and Stevenson (1953). Onset was in childhood with spasticity affecting the lower limbs and some years later there occurred a progressive dystonia, athetoid movements and rigidity. Dementia was not part of the clinical picture.
The family reported by Gilman and Horenstein (1964) was similar, but the picture can be variable within the same family. For a similar condition see also under `pallido-pyramidal degeneration'.
It is likely that many families in this category could have Machado-Joseph disease, and as this condition can be tested for molecularly, all patients with this combination of signs should be tested for this.
* This information is courtesy of the L M D.
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What gene changes cause Amyotrophic Dystonic Paraplegia?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
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.
OMIM Number - 105300 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Amyotrophic Dystonic Paraplegia?
The typical symptoms of the syndrome are:
Intellectual disability, Dystonia, Nystagmus, Autosomal dominant inheritance, Spastic paraplegia, Skeletal muscle atrophy, Urinary incontinence, Bowel incontinence
How does someone get tested for Amyotrophic Dystonic Paraplegia?
The initial testing for Amyotrophic Dystonic Paraplegia 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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