Severe epilepsies |
- Tuberous sclerosis
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Is a genetic illness which causes the formation of abnormal masses in some of the body's cells. The most common organs afected are the skin, the brain, the nervous system, the retina, the heart and the lungs.
Read more... - La Fora
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La Fora, is a myoclonic progressive epilepsy which presents predominantly in Southern Europe. It is very rare and there are few cases. In Spain there are 400,000 people who have some type of epilepsy and of these only 20 are diagnosed as having La Fora. Worldwide it is estimated that 100 to 200 people are affected, principally in mediterranean countries. (Spain has between 20 and 30 cases).
Read more... - Sialidosis
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Is a hereditary metabollic disorder that is very rare, from the mucolipidosis group (excessive accumulation of mucopolysaccharides and glycolipids in tissue). These illnesses are characterised by both the mucopolysaccharides and glycolipids.
There are two types of sialidosis: type I and II.
Read more... - Merrf Syndrome
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Myoclonic epilepsy associated with ripped red muscle fibres. It is an infantile progressive illness transmitted mitochondrially. This illness has also been seen in adults.
Characterised by: progressive mental delay, myoclonic or tonic – clonic seizures, positive photo sensitivity associated with myopathy, ataxias, dementia, neuro-sensory hearing loss, optic atrophy and peripheral neuropathy or spasticity.
- Lennox Syndrome
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Is a rare neurological illness which occurs during infancy and is more frequent in males. It affects 1 in 1,000,000 - 2,000,000 births.
It is characterised by frequent seizures and psychomotor delays. It can be associated with different underlying illnesses, asphyxiation of the newborn, encephalitis, meningitis, dehydration, cerebral trauma, tuberous sclerosis, cortical dysplasia, cerebral malformations and inborn errors of metabolism.
Read more... - Dravet Syndrome
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Infantile severe myoclonic epilepsy was identified as a syndrome by Dravet and Oalla Bernadina in 1982.
The age of the onset of this illness is the first year of life and affects children who have pathological antecedents and normal neurological maturity until the clinical manifestations.The seizures are always convulsive, to begin with prolonged with frequent status epilepticus which occur because of a small increase in body temperature. It is almost impossible to control the seizures with known anti-epileptic drugs. At the beginning electroencephalographic EEG tests are normal which makes the diagnosis difficult.
Read more... - Doose Syndrome or myoclonic astatic epilepsy
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Myoclonic astatic epilepsy or Doose syndrome is an idiopathic form of myoclonic epilepsy.It presents in children between 7 months and 6 years old.
It is characterised by: myoclonic seizures, astatics, tonic-clonic seizures and unusual absences can occur. It can also present as a non convulsive epileptic state which can last for minutes, hours even days.
Response to treatment is good to begin with and seizures are controlled for a while in most cases but relapse is present in an elevated number of cases. With new therapeutic guidelines seizure control is frequent but so is relapse. Development and prognosis of the illness are variable.
- Otahara Syndrome
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Otahara syndrome also called Infantile Encephalopathy with outbreaks of suppression. It is a severe encephalopathy which appears early in the neonatal stage or in the first two months of life. It causes tonic spasms and a pattern of electroencephalogram with outbreaks of suspension whilst awake and asleep. There can be partial seizures, myoclonic seizures are rare. The etiology and pathophysiology are unknown.
It is characterised by: severe psychomotor delay, treatment resistence and usually ends in death or a vegetative state. This type of epilepsy, in minor cases, frequently evolves into West syndrome.
- Rasmussen Syndrome
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Rasmussen encephalopathy is a deteriorating progressive neurological illness resistant to treatment. It appears between 3 and 12 years old although there are cases where the illness has appeared before 3 years old.
It is characterised by: only one side of the brain is affected, there are frequent convulsions in the form of seizures with multiple centre points. Seizures present as uncontrolled movements of a hand or foot that can last for days, weeks or months, although other types of focal seizures or simply convulsions can also be present. Seizures are daily and repetitive and resistant to treatment. Slowly a progressive weakness of one side of the body is seen, this can lead to the paralysis of an arm or leg. This is accompanied by blindness in half of the visual field, sensory disorders, difficulty in speaking, behavioural and learning problems and frequently, mental delay.
- West Syndrome
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West syndrome is also called infantile spasms. The syndrome belongs to the encephalopatic epilepsy groups.The spasms are of a special type of epileptc attack and usually occur in children who are less than a year old.
There are two groups of patients:
Symptomatic: there are cerebral signs of the illness and the cause is known.
Cryptogenic: there are no cerebral signs of the illness and the cause is unknown.
Read more... - Neuronal ceroid-lipofuscinosis NCL
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Santavuori illness or infantile ceroidlipofuscinosis is a rare neurological illness, which is progressive and hereditary. The first signs of the illness occur between 8 and 18 months of age and the child loses all previously acquired abilities.
There is an accumulation of lipofuscin: lipofuscin pigment (fatty substance)autofluorescent is deposited in the brain's neurons and other tissues. Currently these illnesses are called neuronal lipofuscinosis or neuronal ceroidlipofuscinosis.
Read more... - Unverricht-Lundborg Illness
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Unverricht-Lundborg illness is the most common in the infrequent group of progressive myoclonic epilepsies.
The first clinical signs generally occur between 6 and 18 years old in children who had previously been healthy. It presents as generalised tonic – clonic seizures (responds to exterior stimulus such as noise or lights).
The neurological characteristics which occur are: changes to walking, pronounced shaking, ataxia (lack of coordination in body movement), loss of intentional movements, verbal difficulty and emotional instability. The severity of symptoms and the progress of the illness are variable.
Unverricht-Lundborg illness has a slow progressive deterioration, it is chronic and debilitating but contrary to all of the other progressive myoclonic epilepsies it is not lethal. With the correct treatment and the right rehabilitation therapy patients can live until 60 years old.
Upcoming events
- Mesa Redonda: Epilepsia y Escuela
22 de May, 2012 (17:30 - 19:30)
(Conferences) - Epilepsy Day
24 de May, 2012 (All Day)
(Cultural events) - Presentación Cuento: "Epilepto, un amigo especial" en Granada
24 de May, 2012 (All Day)
(Conferences)
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