Paula and Bobby
Parents of Lillie
Akinesia - Pure
What is Akinesia - Pure?
Akinesia - Pure is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Pure akinesia is characterized by the freezing of the gait without the presence of rigidity. It has been described in Pallido-nigro-luysian degeneration and in progressive supranuclear palsy (Williams et al., 2007), and might therefore just be part of multi-system atrophy (MSA). It is placed separately here because it sometimes occurs in isolation. The cases to date have been isolated, but infrequent (Riley et al., 1994). A further case was reported by Katayama et al., (1998). They emphasize that there are two types of pure akinesia: those that respond to L-Dopa and those who do not. They report a nonresponsive case who at post mortem had nigropallidal degeneration.
* This information is courtesy of the L M D.
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What gene changes cause Akinesia - Pure?
The syndrome is inherited in the following inheritance pattern/s:
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
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 Akinesia - Pure?
The typical symptoms of the syndrome are:
How does someone get tested for Akinesia - Pure?
The initial testing for Akinesia - Pure 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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