Petit Mal Epilepsy
Disease Details
Family Health Simplified
- Description
- Petit mal epilepsy, also known as absence epilepsy, is a type of epilepsy that causes brief, sudden lapses in awareness often characterized by staring spells.
- Type
- Petit mal epilepsy, also known as absence epilepsy, is classified as a type of generalized epilepsy. The type of genetic transmission for absence epilepsy is complex and involves multiple genes. It often demonstrates a polygenic inheritance pattern, meaning that several different genes can contribute to the susceptibility of developing the disorder. However, familial cases have been documented, suggesting that there is a hereditary component.
- Signs And Symptoms
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The clinical manifestations of absence seizures vary significantly among patients. Impairment of consciousness is the essential symptom, and may be the only clinical symptom, but this can be combined with other manifestations. The hallmark of the absence seizures is abrupt and sudden-onset impairment of consciousness, interruption of ongoing activities, a blank stare, possibly a brief upward rotation of the eyes. If the patient is speaking, speech is slowed or interrupted; if walking, they stand transfixed; if eating, the food will stop on its way to the mouth. Usually, the patient will be unresponsive when addressed. In some cases, attacks are aborted when the patient is called. The attack lasts from a few seconds to half a minute and evaporates as rapidly as it commenced. Absence seizures generally are not followed by a period of disorientation or lethargy (postictal state), in contrast to the majority of seizure disorders. If the patient has jerking gestures during the seizure this might be the indication of another type of seizure occurring onward with the absence seizure.
Absence with impairment of consciousness only as per the above description.
Absence with mild clonic components. Here the onset of the attack is indistinguishable from the above, but clonic components may occur in the eyelids, at the corner of the mouth, or in other muscle groups which may vary in severity from almost imperceptible movements to generalised myoclonic jerks. Objects held in the hand may be dropped.
Absence with atonic components. Here there may be a diminution in tone of muscles subserving posture as well as in the limbs leading to dropping of the head, occasionally slumping of the trunk, dropping of the arms, and relaxation of the grip. Rarely tone is sufficiently diminished to cause this person to fall.
Absence with tonic components. Here during the attack tonic muscular contraction may occur, leading to increase in muscle tone which may affect the extensor muscles or the flexor muscles symmetrically or asymmetrically. If the patient is standing, the head may be drawn backward and the trunk may arch. This may lead to retropulsion, which may cause eyelids to twitch rapidly; eyes may jerk upwards or the patients head may rock back and forth slowly, as if nodding. The head may tonically draw to one or another side.
Absence with automatisms. Purposeful or quasi-purposeful movements occurring in the absence of awareness during an absence attack are frequent and may range from lip licking and swallowing to clothes fumbling or aimless walking. If spoken to, the patient may grunt, and when touched or tickled may rub the site. Automatisms are quite elaborate and may consist of combinations of the above described movements or may be so simple as to be missed by casual observation.
Absence with autonomic components. These may be pallor, and less frequently flushing, sweating, dilatation of pupils and incontinence of urine.Mixed forms of absence frequently occur.
These seizures can happen a few times a day or in some cases, hundreds of times a day, to the point that the person cannot concentrate in school or in other situations requiring sustained, concentrated attention. - Prognosis
- Petit mal epilepsy, also known as absence epilepsy, typically has a favorable prognosis, especially in children. The condition often resolves by adolescence. Many children outgrow the seizures by their teenage years, though some might develop other types of seizures or continue to have them into adulthood. With appropriate treatment, usually through anticonvulsant medications like ethosuximide or valproic acid, seizures can be well-controlled in the majority of cases. Regular follow-ups with a healthcare professional are crucial for monitoring and managing the condition. Nan (Not a number) is not relevant to the prognosis of petit mal epilepsy.
- Onset
- The onset of petit mal epilepsy, also known as absence epilepsy, typically occurs in childhood, usually between the ages of 4 and 12. It's characterized by brief, sudden lapses in attention or activity, often lasting only a few seconds.
- Prevalence
- Petit mal epilepsy, more commonly known as absence epilepsy, has a prevalence of about 1 in 2,000 people. It typically manifests in childhood, between the ages of 4 and 14.
- Epidemiology
- The incidence of absence seizures in the United States is 1.9–8 cases per 100,000 population. The morbidity from typical absence seizures is related to the frequency and duration of the seizures, as well as to the patient's activities; effective treatment ameliorates these factors. Educational and behavioral problems are sequelae of frequent, unrecognized seizures. No deaths result directly from absence seizures. However, if an individual suffers an absence seizure while driving or operating dangerous machinery, a fatal accident may occur.Absence seizures affect between 0.7 and 4.6 per 100,000 in the general population and 6 to 8 per 100,000 in children younger than 15 years. Childhood absence seizures account for 10% to 17% of all absence seizures. Onset is between 4 and 10 years and peaks at 5 to 7 years. It is more common in girls than in boys.
- Intractability
- Petit mal epilepsy, also known as absence epilepsy, is not inherently intractable. In many cases, it can be effectively managed with anti-epileptic medications such as ethosuximide, valproic acid, or lamotrigine. However, a subset of patients may experience intractable (refractory) absence epilepsy, where seizures are resistant to standard treatments. The course of the disease and response to treatment can vary widely among individuals.
- Disease Severity
- Petit mal epilepsy, also known as absence epilepsy, is generally considered to be less severe compared to other types of epilepsy. It is characterized by brief, sudden lapses in attention and activity, typically lasting a few seconds. These episodes, called absence seizures, usually do not cause long-term damage but can affect quality of life, especially if they occur frequently and are not well-managed.
- Healthcare Professionals
- Disease Ontology ID - DOID:1825
- Pathophysiology
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The corticothalamic cortical circuit plays an important role in the pathophysiology of absence seizure. Some of the neurons are important in their occurrence. They are
Cortical glutamatergic neurons
Thalamic relay neurons
Neurons of thalamic nucleus reticularisAbnormal oscillatory rhythms develop in the thalamic nucleus reticularis. This causes inhibition of GABAergic neurotransmission and excitation of glutamate neurotransmission. Abnormal oscillatory spikes are produced by the low threshold T-type calcium channel. This explains how inheritance of gene code for T-type calcium channel leads to an absence seizure. Antiepileptic drugs such as Gabapentin, Tiagabine and Vigabatrin cause inhibition of GABA resulting in exacerbation of absence seizures. - Carrier Status
- Petit mal epilepsy, also known as absence epilepsy, is not typically characterized by a carrier status because it doesn't follow a classic single-gene inheritance pattern. Instead, it is often considered to have a complex genetic basis with multiple genes potentially involved. This means there are no carriers per se, but rather a genetic predisposition that may run in families, sometimes influenced by environmental factors.
- Mechanism
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Petit mal epilepsy, also known as absence epilepsy, is characterized by brief, sudden lapses in awareness without convulsions.
### Mechanism
The primary neurological mechanism involves abnormal, synchronized electrical activity in the brain, particularly in the thalamocortical circuitry. This results in the characteristic brief periods of blank staring or "absence seizures."
### Molecular Mechanisms
The molecular mechanisms of petit mal epilepsy involve disruptions in ion channels and neurotransmitter systems. Key aspects include:
- **T-type Calcium Channels**: Abnormalities in these channels contribute to the abnormal rhythmic firing observed in absence seizures.
- **GABAergic Signaling**: Altered gamma-aminobutyric acid (GABA) signaling, particularly involving GABA_A receptors, can influence the inhibitory control of neural circuits.
- **Genetic Factors**: Mutations in genes such as CACNA1H (encoding a subunit of T-type calcium channels) and GABRG2 (encoding a subunit of the GABA_A receptor) have been implicated.
These molecular disruptions lead to hyperexcitable neural networks, facilitating the occurrence of absence seizures. - Treatment
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Treatment of patients with absence seizures only is mainly with ethosuximide or valproic acid, which are of equal efficacy controlling absences in around 75% of patients. Lamotrigine monotherapy is less effective, controlling absences in around 50% of patients. This summary has been recently confirmed by Glauser et al. (2010), who studied the effects of ethosuximide, valproic acid, and lamotrigine in children with newly diagnosed childhood absence epilepsy. Drug dosages were incrementally increased until the child was free of seizures, the maximal allowable dose was reached, or a criterion indicating treatment failure was met. The primary outcome was freedom from treatment failure after 16 weeks of therapy; the secondary outcome was attentional dysfunction. After 16 weeks of therapy, the freedom-from-failure rates for ethosuximide and valproic acid were similar and were higher than the rate for lamotrigine. There were no significant differences between the three drugs with regard to discontinuation because of adverse events. Attentional dysfunction was more common with valproic acid than with ethosuximide.
If monotherapy fails or unacceptable adverse reactions appear, replacement of one by another of the three antiepileptic drugs is the alternative. Adding small doses of lamotrigine to sodium valproate may be the best combination in resistant cases.
Although ethosuximide is effective in treating only absence seizures, valproic acid is effective in treating multiple seizure types including tonic-clonic seizure and partial seizure, suggesting it is a better choice if a patient is exhibiting multiple types of seizures.
Similarly, lamotrigine treats multiple seizure types including partial seizures and generalized seizures, therefore it is also an option for patients with multiple seizure types. Clonazepam (Klonopin, Rivotril) is effective in the short term but is not generally recommended for treatment of absence seizure because of the rapid development of tolerance and high frequency of side effects.Roughly 70% of children experiencing absence seizures will see these seizures naturally cease before they reach the age of 18. In such instances, the need for medications might no longer be relevant in adulthood. It's worth noting that children who develop absence seizures prior to turning 9 are more inclined to outgrow them compared to those whose absence seizures commence after the age of 10. - Compassionate Use Treatment
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For petit mal epilepsy, or absence seizures, compassionate use treatments and off-label or experimental treatments might include:
1. **Compassionate Use Treatments**:
- These may involve investigational drugs not yet approved for general use. Families and clinicians can request access to these drugs through regulatory agencies like the FDA's Expanded Access program. Approval is case-specific.
2. **Off-label Treatments**:
- **Clobazam**: Although approved for Lennox-Gastaut syndrome, it may be used off-label for absence seizures.
- **Zonisamide**: Primarily used for partial seizures but can also be considered off-label for absence seizures.
3. **Experimental Treatments**:
- **Cannabidiol (CBD)**: Emerging evidence suggests potential benefits for various seizure types, though more research is needed specifically for absence seizures.
- **Investigational Antiepileptic Drugs (AEDs)**: Ongoing clinical trials may include new AEDs showing promise in treating absence seizures.
It is crucial for patients to work closely with their healthcare providers to evaluate the risks and benefits of these treatments. - Lifestyle Recommendations
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Lifestyle modifications can help manage petit mal epilepsy (also known as absence seizures). Here are some recommendations:
1. **Consistent Sleep Schedule**: Ensure regular, adequate sleep. Sleep deprivation can trigger seizures.
2. **Medication Adherence**: Take antiepileptic medications as prescribed, without missing doses.
3. **Regular Exercise**: Engage in routine physical activity, which can reduce stress and improve overall health.
4. **Balanced Diet**: Maintain a healthy diet. Some individuals may benefit from ketogenic or modified diets, as advised by a healthcare provider.
5. **Stress Management**: Practice relaxation techniques like yoga, meditation, or deep-breathing exercises to mitigate stress.
6. **Limit Alcohol and Avoid Recreational Drugs**: Both can increase seizure risk.
7. **Safety Precautions**: Avoid activities where a sudden loss of awareness could be dangerous, such as swimming alone or operating heavy machinery.
8. **Support Systems**: Stay connected with support groups and communicate openly with family and friends about your condition.
Consult with healthcare professionals for personalized advice and to develop a comprehensive management plan. - Medication
- Petit mal epilepsy, also known as absence epilepsy, is typically treated with medications such as ethosuximide, valproic acid, or lamotrigine. These medications help control the frequency and severity of absence seizures. Treatment plans are usually tailored to the individual patient's needs and response to the medication.
- Repurposable Drugs
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For petit mal epilepsy, also known as absence seizures, there are some medications originally approved for other conditions that have shown potential in controlling seizures. Repurposable drugs for this condition include:
1. **Valproate**: Traditionally used for mood disorders like bipolar disorder, valproate can also be effective in controlling absence seizures.
2. **Lamotrigine**: Initially used for bipolar disorder, lamotrigine is also effective in managing absence seizures.
3. **Levetiracetam**: Originally approved for partial epilepsy, it shows promise in treating various seizure types, including absence seizures.
Since you mentioned "nan" (which could imply "not applicable" or "not available"), if it refers to the nanotechnology realm in epilepsy treatment, it is still a burgeoning field. Nanotechnology-based drug delivery systems are being explored for more effective and targeted treatment of epilepsy, but specific clinical applications for petit mal epilepsy are still in development. - Metabolites
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Petit mal epilepsy, also known as absence epilepsy, is a type of seizure disorder characterized by brief, sudden lapses in attention and activity. There are no specific metabolites directly associated with petit mal epilepsy itself, but treatments for epilepsy such as medications could be metabolized into various compounds. Some common medications used for treating petit mal epilepsy include ethosuximide, valproic acid, and lamotrigine, each of which would have their own metabolic byproducts.
If "nan" stands for "not a number" and intended to refer to a numerical value, there are no specific numerical values for metabolites universally associated with petit mal epilepsy. Instead, the focus is on the presence of seizures and clinical symptoms for diagnosis and treatment efficacy. - Nutraceuticals
- There is limited scientific evidence specifically supporting the use of nutraceuticals for treating petit mal epilepsy (absence seizures). It is essential to consult with a healthcare provider before using any dietary supplements or nutraceuticals as part of treatment. Common conventional treatments include medications like ethosuximide, valproic acid, and lamotrigine.
- Peptides
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Petit mal epilepsy, also known as absence epilepsy, is a type of epilepsy that is characterized by brief, sudden lapses of consciousness.
- **Peptides:** There is ongoing research into the role of peptides in epilepsy. Some studies suggest that certain neuropeptides, such as neuropeptide Y (NPY) and galanin, may have anticonvulsant properties and could potentially be involved in the modulation of seizure activity. However, their exact role in petit mal epilepsy is not fully understood and requires further investigation.
- **Nanotechnology (Nan):** Nanotechnology has the potential to revolutionize the treatment of epilepsy, including petit mal epilepsy. Techniques such as nanoparticle drug delivery systems can enhance the efficacy and reduce the side effects of anticonvulsant drugs. Nanotechnology can also enable targeted delivery to specific brain regions, potentially improving the outcomes for individuals with epilepsy. Research in this field is still in its early stages, but it holds promise for future therapeutic developments.