2023-07-19 00:37:23
Introduction
Fatal Familial Insomnia (FFI) is a human transmissible spongiform encephalopathy (TSE) linked to a defect in the Prp-c protein gene.
Epidemiology
About forty families in the world are affected by this disease (The disease is an alteration of the functions or the health of a living organism, animal, etc.), i.e. regarding a hundred people. A child of someone with IFF has a 50% chance of having it. IFF was first described in Italy in 1986.
The average age of onset is around 50 years old. The first thing that disappears is the ability to take a nap, then the ability to sleep an entire night, until the individual (The Wiktionary is a free and open source dictionary project similar to Wikipedia (both…) can no longer sleep at all. », and formerly plural «menses») is a period of time…).
Treatment
There is currently no treatment for fatal familial insomnia (Fatal familial insomnia (FFI) is a transmissible spongiform encephalopathy (TSE).
Diagnostic
Clinical aspects
The disease is characterized by:
Insomnia (Insomnia is a term created in the 16th century on the basis of the Latin insomnia (from…) clinic An activity (The term activity can designate a profession.) dissociated oneiric activity, made up of rich hallucinations Disorders of consciousness with hypersomnolence, confusional state Vegetative disorders Motor disorders (A motor is a device that transforms non-mechanical energy (wind, chemical, etc.) (myoclonus is rare, unlike Creutzfeldt-Jakob disease) A demented state often late
Additional tests
The waking EEG is not very disturbed.
The sleep EEG (Sleep is a natural recurrent state of loss of consciousness (but without loss of…) finds a disappearance during the evolution of the disease of delta activity, sleep spindles, of K-complexes. commonly a person receiving…) is awake.
Genetic analyzes make it possible to highlight a point mutation of codons 178 and 179 of the PRNP gene (A gene is a deoxyribonucleic acid (DNA) sequence which specifies…), which indicates that it belongs to prion diseases.
Histological analyzes make it possible to highlight specific lesions in the brain (The brain is the main organ of the central nervous system of animals. The brain processes…), with a discreet spongiosis (unlike Creutzfeldt’s disease -Jakob).
Bibliography
(en) G. Almer et al., “Fatal familial insomnia: a new Austrian family”, Brain, Vol. 122, No. 1, 5-16, January 1999. Sleep disorders Insomnia Adjustment insomnia – Psychophysiological insomnia – Paradoxical insomnia – Idiopathic insomnia – Insomnia secondary to a mental illness …) – Insomnia due to poor hygiene (Hygiene is a set of measures intended to prevent infections and…) sleep – Insomnia secondary to a drug (A drug is a chemical, biochemical or natural compound capable of ‘alter one or…) or a substance – Insomnia secondary to a medical cause Sleep disorders related to breathing (In everyday language, breathing designates both gaseous exchanges (rejection…) Syndrome (A syndrome is a set of clinical signs and symptoms that a patient is susceptible to…) of sleep apnea (SAS) Central sleep apnea syndrome (SACS) including Cheyne-Stokes respiration – (RCS) Obstructive Sleep Apnea (OSAS) including High Upper Airway Resistance Syndrome (SHRVAS) Sleep Hypoventilation Syndrome (SHS) including Ondine Syndrome Hypersomnia of central origin Narcolepsy (Narcolepsy or Gélineau disease is a disorder serious neurological disorder…) – Hypersomnia – Recurrent hypersomnia including Kleine-Levin syndrome (Kleine-Levin syndrome (KLS) is a sleep disorder that is part of hypersomnia…) – Idiopathic hypersomnia (Idiopathic hypersomnia is a very rare disease characterized by drowsiness…) Disorders of the circadian rhythm of sleep Late phase syndrome (The word phase can have several meanings, it is used in several areas and…) – Phase advance syndrome – Rhythm Irregular sleep-wakefulness – Hypernychthemeral syndrome (Hypernychthemeral syndrome, also called free-course syndrome is a…) (or free-course syndrome) – Crossing time zones (or jet lag) – Shift work Parasomnia Parasomnia due to sleep disorder awakening in non-REM sleep including Confusional awakening – Somnambulism (Somnambulism, which in Latin means “walking while sleeping”, is a…) – Night terror (A night terror is a paroxysmal and spectacular sleep disorder occurring in… .) Parasomnia usually associated with REM sleep including REM sleep behavior disorders – Paralysis (Paralysis or plegia is a loss of motricity by reduction or loss of…) sleep – Nightmare (The word nightmare is a generic term used variously for…) Other parasomnias including Sleep-Related Dissociative Disorder – Enuresis – Catathrenia – Exploding Head Syndrome – Sleep-Related Hallucinations – Sleep-Related Eating Disorder Sleep-Related Movements Sleepless Legs Syndrome rest – Periodic sleep movement syndrome – Sleep-related muscle cramps – Bruxism (Tooth grinding or bruxism affects 5 to 6% of French people.) sleep – Sleep rhythm Isolated symptoms Long sleeper – Short sleeper – Snoring ( Snoring refers to the breathing noise produced by a sleeper. This noise reflects the…) – Sleep talking – Sleep onset clonia – Benign myoclonia in children Other sleep disorders Physiological sleep disorder – Other sleep disorder not due to a substance or physiological condition – Environmental sleep disorder – fatal familial insomnia Appendix A
That is to say, sleep disorders associated with pathologies classified elsewhere.
Fibromyalgia (Fibromyalgia is the term for a syndrome long known as…) – Sleep epilepsy – Sleep headache – Sleep gastroesophageal reflux disease – Sleep coronary ischemia – Sweating, laryngospasm, shock (From that two entities interact in a violent way, one says that there is shock, that it is of…) in relation to the sleep Appendix B
That is to say other behavioral and psychic disorders frequently encountered in the differential diagnosis (A differential is a mechanical system whose function is to distribute a speed of…) sleep disorders.
Mood disorders – Anxiety disorders – Somatic disorders – Schizophrenia (The term schizophrenia generically includes a set of…) and other psychoses – Personality disorders first diagnosed in childhood or adolescence See also : Medicine (Medicine (from the Latin medicus, “that heals”) is the science and the…)
1689728174
#Fatal #Familial #Insomnia #Definition #Explanation
