Paula and Bobby
Parents of Lillie
Amyotrophic Lateral Sclerosis - Autonomic Failure
What is Amyotrophic Lateral Sclerosis - Autonomic Failure?
Amyotrophic Lateral Sclerosis - Autonomic Failure is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
This is the same condition as ALS, but is put apart to emphasise that serious autonomic failure leading to the 'locked-in state' can be a feature. Shimizu et al., (2000) described a 38 year old woman who had marked dysphasia, dysarthria, and orthostatic hypotension who died from cardiac arrest. She also developed a supranuclear ophthalmoplegia. She had a SOD1 mutation. At PM she had involvement of the autonomic nuclei in the medulla and there was extensive multisystem degeneration.
* This information is courtesy of the L M D.
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What gene changes cause Amyotrophic Lateral Sclerosis - Autonomic Failure?
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.
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 Amyotrophic Lateral Sclerosis - Autonomic Failure?
The typical symptoms of the syndrome are:
How does someone get tested for Amyotrophic Lateral Sclerosis - Autonomic Failure?
The initial testing for Amyotrophic Lateral Sclerosis - Autonomic Failure 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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