Paula and Bobby
Parents of Lillie
Amyotrophic Lateral Sclerosis - (als/mnd)-Sensory Involvement
What is Amyotrophic Lateral Sclerosis - (als/mnd)-Sensory Involvement?
Amyotrophic Lateral Sclerosis - (als/mnd)-Sensory Involvement is a rare disease. It is also known as Motor neuron disease - sensory involvement.
Most cases of familial motor neuron disease do not have clinical evidence of a sensory neuropathy. However, the family described by Metcalf et al., (1971) had members with peripheral numbness and tingling and with loss of peripheral sensation, especially pain. They had, as expected, both upper and lower motor neuron disease and the age of onset was between 30 and 50 years. Unfortunately, an EMG could not be done so the peripheral nerve lesion could not be confirmed. Avitaminosis in a chronically ill patient was thought unlikely. 21 members were affected, but not all had the neuropathy.
* This information is courtesy of the L M D.
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What gene changes cause Amyotrophic Lateral Sclerosis - (als/mnd)-Sensory Involvement?
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.
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 Amyotrophic Lateral Sclerosis - (als/mnd)-Sensory Involvement?
The typical symptoms of the syndrome are:
How does someone get tested for Amyotrophic Lateral Sclerosis - (als/mnd)-Sensory Involvement?
The initial testing for Amyotrophic Lateral Sclerosis - (als/mnd)-Sensory Involvement 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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