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Provide Guidance And Treatment For Fatal Familial Or Sporadic Insomnia
Question: I am scared I have fatal familial/sporadiac insomnia... please help me
Brief Answer:
The Fatal Insomnias are exceedingly rare
Detailed Answer:
Hi,
The fatal insomnias are exceptionally rare and are classified in 2 forms (one is FAMILIAL and one SPORADIC). As of 1986 <60 cases of both forms of fatal insomnia WORLDWIDE have been published which illustrates the rarity of these disorders.
They are caused by an entity called a PRION. The familial form can be diagnosed easily through genetic testing looking for mutations in the PRP gene.
The sporadic form is not known to be tied to any type of genetic abnormality but both sleep studies and PET scans are very capable of picking up the disease and together with clinical characteristics are sufficient to make the diagnosis. In the sporadic form there is a recognized HYPOTHALAMIC metabolism (from PET scan) not seen in the familial form. MRI does not especially help diagnose this form of the disease.
It is not possible to tell from your 1 line of introduction why you feel you may have either of these 2 diseases due to a lack of any other comorbid conditions that we see in conjunction with the primary complaint of insomnia. Simply having a condition of insomnia which is chronic or not satisfactorily responsive to medication is not a reason to highly suspect FI of either form.
In order to rule this diagnosis in or out it is necessary to get both a neurological examination in order to assess for abnormalities in CNS functioning as well as a sleep specialist's input so that polysomnography can be done which is highly sensitivity and in some cases specific for FI.
If both the neurological examination and the sleep study conclude there are no problems such as ataxia, cognitive decline, or sympathetic HYPERACTIVITY and there are no hard signs of rapidly progressive behavioral, cognitive, or personality changes then, the chance of suffering from any form of FI based on insomnia alone is negligible.
If I've answered your question satisfactorily on FATAL INSOMNIA then, I'd very much appreciate your closing the query and remembering to write to me in the future on this or any other topic of interest.
The Fatal Insomnias are exceedingly rare
Detailed Answer:
Hi,
The fatal insomnias are exceptionally rare and are classified in 2 forms (one is FAMILIAL and one SPORADIC). As of 1986 <60 cases of both forms of fatal insomnia WORLDWIDE have been published which illustrates the rarity of these disorders.
They are caused by an entity called a PRION. The familial form can be diagnosed easily through genetic testing looking for mutations in the PRP gene.
The sporadic form is not known to be tied to any type of genetic abnormality but both sleep studies and PET scans are very capable of picking up the disease and together with clinical characteristics are sufficient to make the diagnosis. In the sporadic form there is a recognized HYPOTHALAMIC metabolism (from PET scan) not seen in the familial form. MRI does not especially help diagnose this form of the disease.
It is not possible to tell from your 1 line of introduction why you feel you may have either of these 2 diseases due to a lack of any other comorbid conditions that we see in conjunction with the primary complaint of insomnia. Simply having a condition of insomnia which is chronic or not satisfactorily responsive to medication is not a reason to highly suspect FI of either form.
In order to rule this diagnosis in or out it is necessary to get both a neurological examination in order to assess for abnormalities in CNS functioning as well as a sleep specialist's input so that polysomnography can be done which is highly sensitivity and in some cases specific for FI.
If both the neurological examination and the sleep study conclude there are no problems such as ataxia, cognitive decline, or sympathetic HYPERACTIVITY and there are no hard signs of rapidly progressive behavioral, cognitive, or personality changes then, the chance of suffering from any form of FI based on insomnia alone is negligible.
If I've answered your question satisfactorily on FATAL INSOMNIA then, I'd very much appreciate your closing the query and remembering to write to me in the future on this or any other topic of interest.
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Answered by
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