PDF Myoclonic epilepsies

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Only comments written in English can be processed. Benign adult familial myoclonic epilepsy BAFME is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. BAFME usually presents in the second decade of life but age of onset can range from age with a minor cortical hand tremor.

The tremor consists of continuous, arrhythmic fine twitching in the hands that is exacerbated by fatigue or emotional stress.

Myoclonic Seizures

There is no progression of severity in these tremors until after the age of Myoclonus usually appears around the same age as the cortical tremor and consists of erratic, arrhythmic, segmental jerks of the upper limbs heightened by posture and action. Rare tonic-clonic seizures are also a manifestation of BAFME peak age of onset being 30 , occurring after the appearance of tremors and myoclonus and often precipitated by photic stimulation, emotional stress and sleep deprivation.

Some patients from families mapped on chromosome 2p At an advanced age, a worsening of the myoclonus is possible as well as difficulty walking and mild ataxia. BAFME has been mapped to at least 4 different chromosomal loci.

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In addition, a consanguineous Egyptian family with focal epilepsy, neuropsychiatric features, borderline cognitive level, and myoclonus, resembling BAFME but inherited in an autosomal recessive manner was recently described. A homozygous deletion in the CNTN2 1q Diagnosis is based on clinical and electrophysiological findings. Electroencephalographic EEG findings include a photomyoclonic response along with abnormality of polyspikes and waves.

Patients also display extremely enlarged cortical components of somatosensory evoked potentials and an enhanced C-reflex. Jerk-locked average analysis reveals positive-negative, biphasic spikes preceding myoclonus. BAFME must be differentiated from epilepsy syndromes with prominent myoclonus features. Patients may easily be misdiagnosed as having juvenile myoclonic epilepsy JME; see this term due to the occurence of myoclonic jerks and generalized tonic-clonic seizures.

However, JME differs clinically from BAFME by the absence of cortical tremor, the mainly proximal myoclonic jerks, and seizures typically occurring at awakening.


The absence of ataxia and dementia, the adult onset, and the usually benign outcome of epilepsy differentiates BAFME from progressive myoclonic epilepsies. Your child's healthcare provider will ask about your child's health conditions and what medicines he or she takes.

Epilepsy in schools: what does a myoclonic seizure look like?

The provider will ask for a detailed description of your child's seizure. If you did not see the seizure happen, try to bring someone with you who did see it.

Infantile Spasms

Your child may also need any of the following:. The goal of treatment is to try to stop your child's seizures completely.

Symptoms of Myoclonic Seizures

He or she may need any of the following:. In 1 year, 1 child in 4, children with epilepsy will have this complication. Your child's healthcare provider may recommend a change in medicine to decrease the number of seizures.

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You may not be able to prevent every seizure. The following can help you and your child manage triggers that may make a seizure start:. Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances. The easiest way to lookup drug information, identify pills, check interactions and set up your own personal medication records. Available for Android and iOS devices. Subscribe to Drugs. This material is provided for educational purposes only and is not intended for medical advice, diagnosis or treatment. We comply with the HONcode standard for trustworthy health information - verify here.

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