The current blogspot is based on the question “what is sporadic fatal insomnia?”. We will discuss the clinical features of sporadic fatal insomnia, the diagnosis of sporadic fatal insomnia and the treatment options available for sporadic fatal insomnia.
What is sporadic fatal insomnia
Sporadic fatal insomnia is a rare human prion disease. It is a rare genetic degenerative disorder. It is first evident among humans with an inability to sleep and may worsen to cause degenerative changes often leading to death.
Sporadic fatal insomnia is characterized by :
- Sleep wake disturbances
- Thalamic degeneration
- Deposition of type – II diabetes specific prion protein
Sporadic fatal insomnia is related to a drug family known as prion disease. It is a severe form of fatal familial insomnia that results due to a non inherited mutation. The sporadic fatal insomnia has sleep disturbances as its major symptom accompanied by dementia, hallucinations and delusions.
The sporadic fatal insomnia has four different stages that are :
- Nearly four months of worsening insomnia resulting in paranoia and phobias
- Five months of hallucinations and panic attacks
- Three months of inability of sleep and rapid loss of weight
- Six months of complete or symptomatic dementia which renders the person unresponsive
Some other symptoms of sporadic fatal insomnia include :
- Sudden menopause among women
- Impotence among males
- Increased heart rate
- Increased blood pressure
- Stiff neck
- Double vision
- Restless movement of limbs before sleeping
The age range of onset for sporadic fatal insomnia is 18 years to 60 years. However the average age for the onset is usually 50 years. The sporadic fatal insomnia can be diagnosed prior to its onset by genetic testing among humans. The associated symptoms of sporadic fatal insomnia differ from one person to another and are of different intensity.
Sporadic fatal insomnia usually leads to death of an individual. Between onset to 6-36 months of the disease. The most severe forms of cognitive impairment, ataxia and double vision are usually reported.
What are the clinical features of sporadic fatal insomnia?
The clinical features of sporadic fatal insomnia include:
- Cognitive impairment
- Motor disturbance
- Disease course greater than 12 months
- Impairment in thalamus activity
- Prion protein gene mutation evident through genotyping
- Methionine homozygosity at prion related protein gene codon 129
- Scintigraphic thalamus changes in the brain that may or may not be involving
The sporadic fatal insomnia is caused by a variant in the prion related protein gene. This gene among humans is related to the production of prion protein. A mutation in the gene results in abnormally produced prion protein which is referred to as “prion”.
The prions gather in the thalamus and result in toxic activity in the brain. As a result a progressive loss of nerve cells occurs. This further disturbs the functions of the body that are related to the thalamus. Often the individuals with sporadic fatal insomnia feel incontinence, impotence, menopause, insomnia and hyperhidrosis.
How is sporadic fatal insomnia diagnosed?
The sporadic fatal insomnia is diagnosed through :
- Genetic testing
- Nuclear Imaging
- Positron emission tomography
What is the treatment of sporadic fatal insomnia?
The treatment of sporadic fatal insomnia yields a fair prognosis. The sporadic fatal insomnia is fatal and after the onset, the life expectancy is only seven months to 18 years. The treatment options available are palliative care and sleeping pills.
The palliative care for the patients of sporadic fatal insomnia involves optimising life of the patients by helping them manage their symptoms. As a result of palliative care, the quality of life for the individuals with sporadic fatal insomnia is enhanced. Palliative care for sporadic fatal insomnia involves prevention and relief of symptoms of patients.
Besides palliative care, sleeping pills have been used to treat sporadic fatal insomnia among patients. Barbiturates have often been regarded to help the patients of sporadic fatal insomnia. Similarly anxiolytics and diazepam have been known to provide symptomatic relief.
Vitamin supplements have also been reported to increase the quality of life of patients suffering from sporadic fatal insomnia. Vitamin B6, B 12, Iron and folic acid have been stated to improve the well being of individuals suffering from sporadic fatal insomnia. The intake of vitamins often results in prolonged symptomatic relief among individuals suffering from sporadic fatal insomnia and have a tendency to restore their sleep.
Similarly melatonin supplements are helpful for restoring sleep among the individuals suffering from sporadic fatal insomnia. Doxycyclin is also recommended for treating the primary symptoms of sporadic fatal insomnia among adults.
Antipsychotic drugs are also referred to for the treatment of short term insomnia among patients of sporadic fatal insomnia. Phenothiazine is often regarded as the useful antipsychotic to treat sporadic fatal insomnia.
In the present blogspot we discussed sporadic fatal insomnia. We learned about the symptoms, clinical features, diagnosis and treatment of sporadic fatal insomnia. We also elaborated on the sporadic fatal insomnia as a degenerative disease.
Frequently asked questions (FAQs) : Sporadic Fatal Insomnia
What are the chances of getting sporadic fatal insomnia?
Sporadic fatal insomnia has a chance rate of 1 % – 2 % among humans.
How do I know I have sporadic fatal insomnia?
The cases of sporadic fatal insomnia have following symptoms as detected by polysomnography :
Loss of coordination
Rapidly deteriorating mental function
How do people get sporadic fatal insomnia?
Sporadic fatal insomnia results from abnormal variants in the prion related protein gene among humans. This gene in humans is related to the production of prion protein.