Amyotrophic lateral sclerosis - dystonia - ALS2 mutations

What is Amyotrophic lateral sclerosis - dystonia - ALS2 mutations?

Amyotrophic lateral sclerosis - dystonia - ALS2 mutations is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Two consanguineous families reported by Sheerin et al., (2014) had sibs with initial normal development, but then developed early in childhood spasticity, atrophy with contractures, dystonia, anarthria and global delay. Both families had ALS2 mutations. The condition was progressive.

* This information is courtesy of the L M D.

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What gene changes cause Amyotrophic lateral sclerosis - dystonia - ALS2 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.


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:
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What are the main symptoms of Amyotrophic lateral sclerosis - dystonia - ALS2 mutations?

The typical symptoms of the syndrome are:
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How does someone get tested for Amyotrophic lateral sclerosis - dystonia - ALS2 mutations?

The initial testing for Amyotrophic lateral sclerosis - dystonia - ALS2 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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