Paula and Bobby
Parents of Lillie
Arthrogryposis, Distal, Type 2A (DA2A)
What is Arthrogryposis, Distal, Type 2A (DA2A)?
Arthrogryposis, Distal, Type 2A as it is also known, is part of a group of disorders that present with multiple congenital contractures, which make it difficult for individuals to move specific parts of the body.
To date there have been just 100 cases diagnosed since it was first identified in 1938.
What gene changes cause Arthrogryposis, Distal, Type 2A (DA2A)?
Mutations to the MYH3 gene on chromosome 17 are responsible for the syndrome. The condition is largely the result of de novo mutations on the gene, but it has also been found to have been inherited in an autosomal dominant pattern.
Very rarely research suggests that the condition is inherited in an autosomal recessive pattern which seems to cause a more serious form of the syndrome, with more significant neurological disorders and more severe intellectual disability. Further research suggests it may also be inherited as an x-linked condition in very rare instances.
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.
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 which occurs during the reproductive process.
What are the main symptoms of Arthrogryposis, Distal, Type 2A (DA2A)?
Defects and abnormalities in the hands, feet, head and face are some of the main symptoms of the syndrome.
Facial features of the syndrome include a high palate, a very small tongue, widely spaced and deep set eyes, and crossed eyes.
Other issues, particularly in infancy include feeding difficulties related to swallowing, frequent vomiting and a failure to thrive.
How does someone get tested for Arthrogryposis, Distal, Type 2A (DA2A)?
The initial testing for Freeman-Sheldon syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. 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.
What is FDNA Telehealth?
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