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Myoclonic jerks that are not epileptic may be due to a nervous system disorder or other metabolic abnormalities that may arise in renal (e.g. hyperuraemia) and liver failure (e.g. high ammonia states).
Epilepsy in females with mental retardation, is characterized by seizure onset in infancy or early childhood (6–36 months) and cognitive impairment in some cases. Seizures are predominantly generalized, including tonic-clonic, tonic and atonic seizures. The spectrum of phenotypes has been extended to include female patients with early onset epileptic encephalopathies resembling Dravet syndrome, FIRES, Generalized epilepsy with febrile seizures plus (GEFS+) or focal epilepsy with or without mental retardation. EFMR is caused by mutations in PCDH19 (protocadherin 19).
Childhood absence epilepsy (CAE) is an idiopathic generalized epilepsy that affects children between the ages of 4 and 12 years of age, although peak onset is around five to six years old. These patients have recurrent absence seizures, brief episodes of unresponsive staring, sometimes with minor motor features such as eye blinking or subtle chewing. The EEG finding in CAE is generalized 3 Hz spike and wave discharges. Some go on to develop generalized tonic-clonic seizures. This condition carries a good prognosis because children do not usually show cognitive decline or neurological deficits, and the seizures in the majority cease spontaneously with ongoing maturation.
The hallmark characteristic of PCDH19 gene-related epilepsy is early-onset cluster seizures that often cause cyanotic spells, which start in infancy or early childhood. The onset of the first cluster of seizures usually coincides with a fever (febrile seizures), however subsequent seizures may be febrile or afebrile. The seizure clusters are generally brief seizures, lasting 1–5 minutes, often accompanied by fearful screaming observed in 63% of girls. These cluster seizures can occur more than 10 times a day over several days, with varying amounts of time between seizure clusters.
Over time, children with PCDH19 gene-related epilepsy tend to exhibit multiple seizure types, including focal, generalized tonic-clonic, tonic, atonic, myclonus, and absence seizures. In a small study of 35 female patients with PCDH19 gene-related epilepsy, rare episodes of status epilepticus occurred in about 30% of patients in the early course of the disorder.
In PCDH19 gene-related epilepsy, the seizures are often refractory to treatment, especially in infancy and childhood. Additionally, seizures are usually characterized by persistence of cluster seizures, with variable frequency. In a study of 35 female patients with PCDH19 gene-related epilepsy, approximately 30% had become seizure free in the girl's childhood (mean age of 12 years), yet some continued into adulthood. In the same study, a few patients still had recurrent cluster seizures that evolved into status epilepticus in childhood or early adolescence.
Myoclonus can be described as brief jerks of the body; it can involve any part of the body, but it is mostly seen in limbs or facial muscles. The jerks are usually involuntary and can lead to falls. EEG is used to read brain wave activity. Spike activity produced from the brain is usually correlated with brief jerks seen on EMG or excessive muscle artifact. They usually occur without detectable loss of consciousness and may be generalized, regional or focal on the EEG tracing. Myclonus jerks can be epileptic or not epileptic. Epileptic myoclonus is an elementary electroclinical manifestation of epilepsy involving descending neurons, whose spatial (spread) or temporal (self-sustained repetition) amplification can trigger overt epileptic activity.
Ohtahara syndrome is rare and the earliest-appearing age-related epileptic encephalopathy, with seizure onset occurring within the first three months of life, and often in the first ten days. Many, but not all, cases of OS evolve into other seizure disorders, namely West syndrome and Lennox-Gastaut syndrome.
The primary outward manifestation of OS is seizures, usually presenting as tonic seizures (a generalized seizure involving a sudden stiffening of the limbs). Other seizure types that may occur include partial seizures, clusters of infantile spasms, and, rarely, myoclonic seizures. In addition to seizures, children with OS exhibit profound mental and physical retardation.
Clinically, OS is characterized by a "burst suppression" pattern on an EEG. This pattern involves high voltage spike wave discharge followed by little brain wave activity.
It is named for the Japanese neurologist Shunsuke Ohtahara (1930–2013), who identified it in 1976.
Beyond early-onset and treatment-resistant cluster seizures, PCDH19 gene-related epilepsy is usually, but not always, associated with cognitive and sensory impairment of varying degrees, and psychiatric and behavioral problems. It is estimated that up to 60 to 75% of the females have cognitive deficits, ranging from mild to severe intellectual disability, which do not appear to be related to frequency or severity of seizures. Development over the course of a female patients’ childhood can follow one of three courses: delays from birth that persist into adulthood, normal development and then regression, or normal intellectual development. It is not yet clear why some people experience delayed intellectual growth and others regress with epilepsy.
From the University of Melbourne study, two-thirds of PCDH19 gene-related epilepsy patients have borderline intellectual functioning or intellectual disability, while one third have normal intelligence. A connection to depression, autism, obsessive and aggressive behaviors and other disorders has been observed in PCDH19 gene-related epilepsy. Approximately 40-60% of girls diagnosed with a PCDH19 mutation are on the autism spectrum.
Many of those with PCDH19 gene mutations also exhibit behavioral and psychological problems – including ADHD, aggression, obsessive-compulsive disorder, and anxiety. Other neurological abnormalities may present, including sleep disturbances, ictal apnea, motor deficits, hypotonia, language delay, sensory integration problems and dysautonomia.
Originally called Doose syndrome, epilepsy with myoclonic-astatic seizures accounts for ~2% of childhood epilepsies. Children with this disorder have incredibly brief (<100ms) myoclonic jerks followed by equally brief loss of muscle tone, sometimes resulting in dangerous falls. Some patients have much longer lasting seizures of this type. Many patients with this disorder also have absence seizures. This is believed to be a polygenic disorder.
Also known as Janz syndrome, juvenile myoclonic epilepsy (JME) is a common form of epilepsy, accounting for ~10% of all cases and ~25% of cases of idiopathic generalized epilepsies. Many children with CAE go onto to develop JME. JME first presents between the ages of 12 and 18 with prominent myoclonic seizures. These seizures tend to occur early in the morning. Patients with JME may also have generalized tonic-clonic seizures and absence seizures. Linkage of this disorder has been shown to mutations in the genes GABRA1, CACNB4, CLCN2, GABRD2, EFHC1, and EFHC2.
The age of onset of seizures is typically between three and five, though onset can occur at an earlier or later age. The syndrome shows clear parallels to West syndrome, enough to suggest a connection.
Daily multiple seizures are typical in LGS. Also typical is the broad range of seizures that can occur, larger than that of any other epileptic syndrome. The most frequently occurring seizure type is tonic seizures, which are often nocturnal (90%); the second most frequent are myoclonic seizures, which often occur when the person is over-tired.
Atonic, atypical absence, tonic, complex partial, focalized and tonic–clonic seizures are also common. Additionally, about half of patients will have status epilepticus, usually the nonconvulsive type, which is characterized by dizziness, apathy, and unresponsiveness. The seizures can cause sudden falling (or spasms in tonic, atonic and myoclonic episodes) and/or loss of balance, which is why patients often wear a helmet to prevent head injury.
In addition to daily multiple seizures of various types, children with LGS frequently have arrested/slowed psycho-motor development and behavior disorders.
The syndrome is also characterized by an (between-seizures) EEG featuring slow spike-wave complexes.
Ohtahara syndrome (OS), also known as early infantile epileptic encephalopathy with burst-suppression (EIEE), is a progressive epileptic encephalopathy. The syndrome is outwardly characterized by tonic spasms and partial seizures, and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG). It is an extremely debilitating progressive neurological disorder, involving intractable seizures and severe mental retardation. No single cause has been identified, although in many cases structural brain damage is present.
Early myoclonic encephalopathy (EME) is an epilepsy syndrome where myoclonic seizures develop in the neonatal period. After several months, the seizure pattern may develop to infantile spasms (West syndrome). Various genetic and metabolic disorders are responsible. The seizures are resistant to treatment. The neurology is very abnormal and patients often do not live beyond one year.
There are six main types of generalized seizures: tonic-clonic, tonic, clonic, myoclonic, absence, and atonic seizures. They all involve a loss of consciousness and typically happen without warning.
- Tonic-clonic seizures present with a contraction of the limbs followed by their extension, along with arching of the back for 10–30 seconds. A cry may be heard due to contraction of the chest muscles. The limbs then begin to shake in unison. After the shaking has stopped it may take 10–30 minutes for the person to return to normal.
- Tonic seizures produce constant contractions of the muscles. The person may turn blue if breathing is impaired.
- Clonic seizures involve shaking of the limbs in unison.
- Myoclonic seizures involve spasms of muscles in either a few areas or generalized through the body.
- Absence seizures can be subtle, with only a slight turn of the head or eye blinking. The person often does not fall over and may return to normal right after the seizure ends, though there may also be a period of post-ictal disorientation.
- Atonic seizures involve the loss of muscle activity for greater than one second. This typically occurs bilaterally (on both sides of the body).
Generalized seizures can be either absence seizures, myoclonic seizures, clonic seizures, tonic-clonic seizures or atonic seizures.
Generalized seizures occur in various seizure syndromes, including myoclonic epilepsy, familial neonatal convulsions, childhood absence epilepsy, absence epilepsy, infantile spasms (West's syndrome), Juvenile Myoclonic Epilepsy and Lennox-Gastaut syndrome.
Focal seizures are often preceded by certain experiences, known as an aura. These may include: sensory, visual, psychic, autonomic, olfactory or motor phenomena.
In a complex partial seizure a person may appear confused or dazed and can not respond to questions or direction. Focal seizure may become generalized.
Jerking activity may start in a specific muscle group and spread to surrounding muscle groups—known as a "Jacksonian march". Unusual activities that are not consciously created may occur. These are known as automatisms and include simple activities like smacking of the lips or more complex activities such as attempts to pick something up.
The epileptic seizures which can be observed in infants with West syndrome fall into three categories, collectively known as infantile spasms. Typically, the following triad of attack types appears; while the three types usually appear simultaneously, they also can occur independently of each other:
- "Lightning attacks": Sudden, severe myoclonic convulsions of the entire body or several parts of the body in split seconds, and the legs in particular are bent (flexor muscle convulsions here are generally more severe than extensor ones).
- "Nodding attacks": Convulsions of the throat and neck flexor muscles, during which the chin is fitfully jerked towards the breast or the head is drawn inward.
- "Salaam or jackknife attacks": a flexor spasm with rapid bending of the head and torso forward and simultaneous raising and bending of the arms while partially drawing the hands together in front of the chest and/or flailing. If one imagined this act in slow motion, it would appear similar to the Muslim ceremonial greeting (Salaam), from which this type of attack derives its name.
Generalized epilepsy, also known as primary generalized epilepsy or idiopathic epilepsy, is a form of epilepsy characterised by generalised seizures with no apparent cause. Generalized seizures, as opposed to focal seizures, are a type of seizure that impairs consciousness and distorts the electrical activity of the whole or a larger portion of the brain (which can be seen, for example, on electroencephalography, EEG).
Generalized epilepsy is "primary" because the epilepsy is the originally diagnosed condition itself, as opposed to "secondary" epilepsy, which occurs as a symptom of a diagnosed condition.
Lennox–Gastaut syndrome (LGS) is a childhood-onset epilepsy that most often appears between the second and sixth year of life. LGS is characterized by a triad of signs including frequent seizures of multiple types, an abnormal EEG pattern of less than 2.5 Hz slow spike wave activity, and moderate to severe intellectual impairment.
Epilepsy is most commonly recognised by involuntary movements of the head and limbs, however other characteristics include salivation, lack of and anxiety. Animals often lose consciousness and are not aware of their surroundings.
Signs and symptoms of CBPS typically appear in infancy or at birth, but can appear later in childhood. These include facial diplegia (paralysis on both sides), facial muscle spasms, pseudobulbar palsy, dysarthria (difficulty speaking), difficulty chewing, dysphagia (difficulty swallowing), epilepsy, and intellectual disability. Epileptic seizures in individuals with CBPS are different between individuals and can vary between episodes.
Epileptic spasms, also known as infantile spasms, juvenile spasms, or West syndrome is an uncommon-to-rare epileptic disorder in infants, children and adults. It is named after the English physician, William James West (1793–1848), who first described it in an article published in The Lancet in 1841. The original case actually described his own son, James Edwin West (1840–1860). Other names for it are "generalized flexion epilepsy", "infantile epileptic encephalopathy", "infantile myoclonic encephalopathy", "jackknife convulsions", "massive myoclonia" and "Salaam spasms". The term "infantile spasms" can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. West syndrome in modern usage is the triad of infantile spasms, a pathognomonic EEG pattern (called hypsarrhythmia), and developmental regression – although the international definition requires only two out of these three elements.
The syndrome is age-related, generally occurring between the third and the twelfth month, generally manifesting around the fifth month. There are various causes. The syndrome is often caused by an organic brain dysfunction whose origins may be prenatal, perinatal (caused during birth) or postnatal.
FIRES seizures are non-focal - there is no specified starting or stopping point - making brain surgery impossible. These seizures damage cognitive abilities of the brain such as memory or sensory abilities. This can result in learning disabilities, behavioral disorders, memory issues, sensory changes, inability to move, and death. Children continue to have seizures throughout their lives.
Watching an animal have a seizure can be quite frightening. There is not much that can be done during a seizure except to remain calm and not leave the animal alone. If your pet is having a seizure it is important to make sure they are laying down on the floor away from any water, stairs or other animals. When an animal has a seizure, do not try to grab their tongue or clear their mouth as there is a high chance you will be bitten; contrary to popular myth, neither humans nor animals can "swallow their tongue" during a seizure so it is safest to stay well away from their mouth during one. Timing seizures is also crucial. Take notes of seizures - what time they occur, how often and any other specific information which can be passed onto the vet or emergency animal clinic.
The Landau–Kleffner syndrome is characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electroencephalogram (EEG). LKS affects the parts of the brain that control comprehension and speech (Broca's area and Wernicke's area). The disorder usually occurs in children between the ages of 3 and 7 years. There appears to be a male dominance in the diagnosis of the syndrome (ratio of 1.7:1, men to women).
Typically, children with LKS develop normally, but then lose their language skills. While many affected individuals have clinical seizures, some only have electrographic seizures, including electrographic status epilepticus of sleep (ESES). The first indication of the language problem is usually auditory verbal agnosia. This is demonstrated in patients in multiple ways including the inability to recognize familiar noises and the impairment of the ability to lateralize or localize sound. In addition, receptive language is often critically impaired, however in some patients, impairment in expressive language is the most profound. In a study of 77 cases of Landau–Kleffner syndrome, 6 were found to have this type of aphasia. Because this syndrome appears during such a critical period of language acquisition in a child's life, speech production may be affected just as severely as language comprehension. The onset of LKS is typically between 18 months and 13 years, the most predominant time of emergence being between 3 and 7 years.
Generally, earlier manifestation of the disease correlates with poorer language recovery, and with the appearance of night seizures that last for longer than 36 months. LKS has a wide range of symptom differences and lacks a uniformity in diagnostic criteria between cases, and many studies don't include follow-ups on the patients, so no other relationships between symptoms and recovery have been made known.
Language deterioration in patients typically occurs over a period of weeks or months. However, acute onset of the condition has also been reported as well as episodic aphasia.
Seizures, especially during the night, are a heavily weighted indicator of LKS. The prevalence of clinical seizures in acquired epileptic aphasia (LKS) is 70-85%. In one third of patients, only a single episode of a seizure was recorded. The seizures typically appear between the ages of 4 and 10 and disappear before adulthood (around the age of 15).
Often, behavioral and neuropsychologic disturbances accompany the progression of LKS. Behavioral issues are seen in as many as 78% of all cases. Hyperactivity and a decreased attention span are observed in as many as 80% of patients as well as rage, aggression, and anxiety. These behavior patterns are considered secondary to the language impairment in LKS. Impaired short-term memory is a feature recorded in long-standing cases of acquired epileptic aphasia.
Patients diagnosed with porencephaly display a variety of symptoms, from mild to severe effects on the patient. Patients with severe cases of porencephaly suffer epileptic seizures and developmental delays, whereas patients with a mild case of porencephaly display little to no seizures and healthy neurodevelopment. Infants with extensive defects show symptoms of the disorder shortly after birth, and the diagnosis is usually made before the age of 1.
The following text lists out common signs and symptoms of porencephaly in affected individuals along with a short description of certain terminologies.