Amyotrophy, Hereditary Neuralgic (HNA)

What is Amyotrophy, Hereditary Neuralgic (HNA)?

This rare disease is a genetic condition that generally presents with symptoms when an affected individual reaches early adulthood.

The condition is currently believed to affect 200 families worldwide, to date.

Severe arm and shoulder pain, which can last anywhere from a few minutes to several days, is the main feature of this rare disease.

What gene changes cause Amyotrophy, Hereditary Neuralgic (HNA)?

Over half of all cases of the syndrome are the result of mutations in the SEPT9 gene which can be found on chromosome 17. The remaining identified cases have no specific gene yet identified responsible for causing the syndrome. It is inherited in an autosomal dominant pattern.

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 Amyotrophy, Hereditary Neuralgic (HNA)?

Severe pain in the arm and shoulder is the main symptom of the syndrome. This pain can last for days or weeks at a time and causes a wasting of the muscles which worsens with time.

The syndrome is caused by gene mutations but a number of environmental, physical and emotional factors may trigger it. These factors include stress, childbirth, excessive exercise, surgery, emotional stress, colds and infections.

Some individuals with the syndrome have some of the following distinct facial features- facial asymmetry, webbed digits, eyes positioned very closely together, a short stature and excess skin folds on the arms and neck.

How does someone get tested for Amyotrophy, Hereditary Neuralgic (HNA)?

The initial testing for Amyotrophy, Hereditary Neuralgic 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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