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Amyotrophic Lateral Sclerosis - Vcp Mutations
What is Amyotrophic Lateral Sclerosis - Vcp Mutations?
Amyotrophic Lateral Sclerosis - Vcp Mutations is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Johnson et al., (2010) reported a large ALS family (a few demented as in FTD) with onset in adult life. Using exome sequencing, VCP mutations were found, This is the same gene as is responsible for Kimonis (2000) and Myopathy - distal - VCP mutations - see elsewhere.
Note thye large family reported by de Bot et al., (2012) where the clinical phenotye was hereditarh spastic paraplegia, but with EMG evidence of lower motor neuron involvement who also had Paget disease - see elsewhere unser Kimonis (2000) - paget disease and muscular dystrophy - VCP mutations
* This information is courtesy of the L M D.
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What gene changes cause Amyotrophic Lateral Sclerosis - Vcp Mutations?
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Amyotrophic Lateral Sclerosis - Vcp Mutations?
The typical symptoms of the syndrome are:
How does someone get tested for Amyotrophic Lateral Sclerosis - Vcp Mutations?
The initial testing for Amyotrophic Lateral Sclerosis - Vcp Mutations 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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