Paula and Bobby
Parents of Lillie
Chronic Idiopathic Ataxic Neuropathy
What is Chronic Idiopathic Ataxic Neuropathy?
Chronic Idiopathic Ataxic Neuropathy is a rare disease. It is also known as Hered. sensory and autonomic neuropathy - late onset Hered. sensory and autonomic neuropathy with late onset.
This is a proprioceptive neuropathy. Patients present with a slowly progressive gait ataxia especially in the dark and some parasthesia. The clinical examination reveals major changes in the posterior column function and only minimal peripheral superficial sensory loss. Sensory action potentials are absent, but the EMG is normal. Nerve biopsy shows loss of large myelinated fibres.
Most cases are sporadic, and known causes include a hidden carcinoma and pyridoxine abuse. These are, however, a small number of pedigrees with dominant inheritance with late onset, indistinguishable from the sporadic cases. For these see under 'Hered sensory ataxia'.
Differentiation from HMSN type 2 can be difficult. In single cases when sensory signs predominate, the condition described here is more likely (Teunissen et al., 1997).
* This information is courtesy of the L M D.
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What gene changes cause Chronic Idiopathic Ataxic Neuropathy?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - 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.
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 Chronic Idiopathic Ataxic Neuropathy?
The typical symptoms of the syndrome are:
How does someone get tested for Chronic Idiopathic Ataxic Neuropathy?
The initial testing for Chronic Idiopathic Ataxic 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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