Paula and Bobby
Parents of Lillie
Acute Motor Axonal Neuropathy
What is Acute Motor Axonal Neuropathy?
Acute Motor Axonal Neuropathy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
This is not thought to be a primary genetic condition, but must be considered in the differential diagnosis of the Guillain-Barre syndrome. The two conditions are clinically identical, but differ electrically in that the condition under consideration here is axonal and not demyelinating. There have been epidemics of this condition in China, Japan, Mexico, Spain and India. Relapses occur in 5%, and there is a mortality rate of 3-5%. Note that there has been a chronic relapsing case described by Chroni et al., (1995).
A single case reported by Phillips et al., (1997), showed on MRI an enhancement of the cauda equina and a CSF with albumin-cytological dissociation. Two patients were reported by Landau et al., (2007). One had a febrile episode days before onset and positive serology for anti-GM1 antibodies. Both had asymmetrical tendon reflexes, an unusual finding in Guillain-Barre syndrome.
* This information is courtesy of the L M D.
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What gene changes cause Acute Motor Axonal Neuropathy?
The syndrome is inherited in the following inheritance pattern/s:
Sporadic - 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.
Environment - Environmental causes, or exposure to external environmental factors, can sometimes contribute to the cause of a rare disease.
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:
What are the main symptoms of Acute Motor Axonal Neuropathy?
The typical symptoms of the syndrome are:
How does someone get tested for Acute Motor Axonal Neuropathy?
The initial testing for Acute Motor Axonal Neuropathy 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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