Arthrogryposis, Distal, Type 8 (DA8)

What is Arthrogryposis, Distal, Type 8 (DA8)?

Also known as Arthrogryposis, Distal, Type 8, this very rare genetic condition has been identified in just 50 people to date.

The syndrome is part of a group of disorders that present with multiple congenital contractures, which make it difficult for individuals to move specific parts of their body.

What gene changes cause Arthrogryposis, Distal, Type 8 (DA8)?

Mutations to the CHRNG gene are responsible for causing the syndrome. It is mainly inherited in an autosomal recessive pattern, but there have been cases of it being passed in an autosomal dominant pattern.

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 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.

What are the main symptoms of Arthrogryposis, Distal, Type 8 (DA8)?

Two major symptoms usually present before birth: webbing of the skin between the joints, and a lack of muscle movement.

Unique facial features of the syndrome include a small jaw, long philtrum, downward slanting eyes, epicanthal folds, drooping eyelids, low set ears and a cleft palate.

The condition also presents with a small stature, defects in the vertebrae, contractures of the joints, webbing of the neck, permanently bent fingers, webbing between the fingers and club feet.

Curvature of the spine and skeletal anomalies are also common. All of these physical features may also affect movement.

How does someone get tested for Arthrogryposis, Distal, Type 8 (DA8)?

The initial testing for Multiple Pterygium 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.

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