Paula and Bobby
Parents of Lillie
Acute Sensory Neuropathy
What is Acute Sensory Neuropathy?
Acute Sensory Neuropathy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
This acute neuropathy occurs in adulthood with numbness and tingling in the upper or lower limbs and glove and stocking sensory loss. This is well known to occur as a result of carcinomatous neuropathy, but in the patients described by Windebank et al., (1990) this category was excluded. Despite the name, there are no inflammatory changes on nerve biopsy and whereas most recover over a period of months, this is not always the case. A sensory ataxia is a long-term problem (Yasuda et al., 1995).
There is no evidence of a genetic input.
* This information is courtesy of the L M D.
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What gene changes cause Acute Sensory 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.
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 Sensory Neuropathy?
The typical symptoms of the syndrome are:
How does someone get tested for Acute Sensory Neuropathy?
The initial testing for Acute Sensory 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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