Paula and Bobby
Parents of Lillie
Andersen Cardiodysrhythmic Periodic Paralysis
What is Andersen Cardiodysrhythmic Periodic Paralysis?
Also known as Andersen-Tawil syndrome this very rare genetic syndrome has been diagnosed in just 200 individuals worldwide, to date.
The main symptom of the syndrome is periodic paralysis accompanied by muscle weakness. These symptoms are progressive and may worsen over time.
What gene changes cause Andersen Cardiodysrhythmic Periodic Paralysis?
Around 60% of cases are believed to be caused by mutations in the KCNJ2 gene, and these are known as Type 1 cases.
The remaining cases have an unknown genetic cause, and are referred to as Type 2.
Up to 22 genes have been identified in patients with Long QT syndrome.
It is inherited in an autosomal dominant pattern. Some cases are the result of a new mutation.
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 which occurs during the reproductive process.
What are the main symptoms of Andersen Cardiodysrhythmic Periodic Paralysis?
The main syndromes of the condition are periodic paralysis with muscle weakness which research suggests is usually triggered by exercise or extended periods of rest. This muscle weakness may increase over time.
Conditions involving the heart and in particular the rhythm of the heart are also serious symptoms of the syndrome. These include ventricular arrhythmia which affects the rhythm of the lower chambers of the heart, and long QT syndrome which produces irregular heartbeats which may cause pain, fainting and in more severe cases death.
Facial features associated with the syndrome include a small lower jaw and dental abnormalities. Low-set ears and widely-spaced eyes are another feature. As are the fusing of the 2nd and 3rd toes.
Other physical conditions might include a short stature and scoliosis of the spine.
How does someone get tested for Andersen Cardiodysrhythmic Periodic Paralysis?
The initial testing for Andersonj-Tawil 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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