Paula and Bobby
Parents of Lillie
Amyotrophic Lateral Sclerosis - Lymphoma
What is Amyotrophic Lateral Sclerosis - Lymphoma?
Amyotrophic Lateral Sclerosis - Lymphoma is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Clinically this entity is no different from the usual motor neuron disease, but it is important for the clinician to remember the nine or ten cases in the literature in which this clinical picture has been associated with a Hodgkin or non-Hodgkin lymphoma (Younger et al., 1991). The clue to this diagnosis is the presence of a raised CSF protein and the biochemical finding of a paraproteinaemia. All cases to date have been single.
In an update of the above-mentioned paper, Gordon et al., (1997) report 26 patients extending the range to include multiple myeloma, chronic lymphocytic leukemia and others.
* This information is courtesy of the L M D.
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What gene changes cause Amyotrophic Lateral Sclerosis - Lymphoma?
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 Amyotrophic Lateral Sclerosis - Lymphoma?
The typical symptoms of the syndrome are:
How does someone get tested for Amyotrophic Lateral Sclerosis - Lymphoma?
The initial testing for Amyotrophic Lateral Sclerosis - Lymphoma 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.
What is FDNA Telehealth?
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