Paula and Bobby
Parents of Lillie
Amyotrophic Lateral Sclerosis - Fus Mutations
What is Amyotrophic Lateral Sclerosis - Fus Mutations?
Amyotrophic Lateral Sclerosis - Fus Mutations is a rare disease. It is also known as ALS6.
Kwiatkowski et al., (2009) and Vance et al., (2009) reported families with mutations in the FUS gene. The Kwiatkowski et al., (2009) families were from the Cape Verde and were recessive. The mutations were homozygous, but heterozygotes from both familial and sporadic ALS have also been reported (Belzil et al., 2009). A large 6-generation family reported by Tateishi et al., (2010) had FUS mutations. At post-mortem there was multiple system degeneration and there were basophilic neuronal inclusions. Note that patients with the p.R521C mutation might have proximal upper limb weakness with neck and axial involvement (Corrado et al., 2010).
A Japanese family was reported by Yamamoto-Watanabe et al., (2010). Swallowing and speech problems occurred early followed by weakness and atrophy. The course was rapid..
* This information is courtesy of the L M D.
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What gene changes cause Amyotrophic Lateral Sclerosis - Fus Mutations?
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.
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.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
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 - Fus Mutations?
The typical symptoms of the syndrome are:
How does someone get tested for Amyotrophic Lateral Sclerosis - Fus Mutations?
The initial testing for Amyotrophic Lateral Sclerosis - Fus 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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