関: myoclonus epilepsy

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a disorder of the central nervous system characterized by loss of consciousness and convulsions

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/23 00:29:41」(JST)

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Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks are occasionally associated with abnormal brain wave activity, it can be categorized as myoclonic seizure. If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered.

Classification

There are two syndromes and several related disorders.

Juvenile

Juvenile myoclonic epilepsy is responsible for 7% of cases of epilepsy.^{[unreliable medical source?]}^[1] Seizures usually begin around puberty and usually have a genetic basis.^[1] Seizures can be stimulus-selective, with flashing lights being one of the most common triggers.^[1]

Progressive

Progressive myoclonus epilepsy is a disease associated with myoclonus, epileptic seizures, and other problems with walking or speaking. These symptoms often worsen over time and can be fatal.^[2]

MERRF syndrome is also known as myoclonic epilepsy with ragged-red fibers. This rare inherited disorder affects muscles cells.^[3] Features of MERRF, along with myoclonus epilepsy seizures, include ataxia, peripheral neuropathy, and dementia.^[3]

Lafora disease is also known as Lafora progressive myoclonus epelepsy, which is an autosomal recessive inherited disorder involving reoccurrent seizures and degradation of mental capabilities.^[4] Lafora disease usually occurs in late childhood and usually leads to death around 10 years after first signs of the disease.^[4]

Unverricht-Lundborg disease is an autosomal recessive inherited disorder seen in individuals as young as six years.^[5] It is associated with possible loss of consciousness, rigidity, ataxia, dysarthria, declination of mental functioning, and involuntary shaking.^[5]

Neuronal ceroid lipofuscinosis is a group of diseases that cause blindness, loss of mental abilities, and loss of movement.^[6] All diseases in this group are lysosomal-storage disorders that also lead to death roughly ten years after onset of the disease.^[6]

Related disorders

Lennox–Gastaut syndrome is often associated with intellectual deficits as well as a lack of response to anti-epileptic drugs.^[7] It usually begins in the first years of life.^[7]

Recticular reflex myoclonus is a generalized form of epilepsy originating from the brain stem. Jerks associated can affect all muscles on the body or be selective in certain areas.^[2] Jerks can be triggered by voluntary movement or be simulus-selective.^[2]

Signs and symptoms

Myoclonus can be described as brief jerks of the body;^[8] 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.^[8] 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.^[8] Myclonus jerks can be epileptic or not epileptic.^[8] 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.^[8]

Differential diagnosis

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).

References

^ ^a ^b ^c Juvenile Myoclonic Epilepsy: Characteristics and Treatment". Epilepsy.com.
^ ^a ^b ^c Myoclonus Fact Sheet. National Institute of Neurological Disorders and Stroke.
^ ^a ^b "Myoclonic epilepsy with ragged-red fibers". Genetics Home Reference.
^ ^a ^b "Lafora progressive myoclonus epilepsy". Genetics Home Reference.
^ ^a ^b "Unverricht-Lundborg disease". Genetics Home Reference.
^ ^a ^b "Neuronal Ceroid-Lipofuscinoses". GeneReviews.
^ ^a ^b Niedermeyer, Ernst (1992). "Epileptic Syndromes: A Remarkable Contribution of EEG to Epileptology". American Journal of EEG Technology (32): 10–12.
^ ^a ^b ^c ^d ^e Wyllie, Elaine (2006). The Treatment of Epilepsy. Lippincott, Williams and Wilkins. ISBN 0-7817-4995-6. , 307-408.

UpToDate Contents

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1. 若年性ミオクローヌスてんかん juvenile myoclonic epilepsy
2. 小児におけるてんかん症候群 epilepsy syndromes in children
3. ミオクローヌスの分類および評価 classification and evaluation of myoclonus
4. 成人におけるてんかんのマネージメントの概要 overview of the management of epilepsy in adults
5. Approach to abnormal movements and behaviors during sleep

English Journal

Three families with 'de novo' m.3243A > G mutation.

de Laat P1, Janssen MC2, Alston CL3, Taylor RW3, Rodenburg RJ1, Smeitink JA1.
BBA clinical.BBA Clin.2016 Apr 29;6:19-24. doi: 10.1016/j.bbacli.2016.04.007. eCollection 2016.
The m.3243A > G mutation is the most prevalent, disease-causing mitochondrial DNA (mtDNA) mutation. In a national cohort study of 48 families harbouring the m.3243A > G mutation, we identified three families in which the mutation appeared to occur sporadically within these families. In thi
PMID 27331024

The yield of video-EEG telemetry evaluation for non-surgical candidate children.

Bennett-Back O1, Uliel-Siboni S2, Kramer U2.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.Eur J Paediatr Neurol.2016 Nov;20(6):848-854. doi: 10.1016/j.ejpn.2016.05.017. Epub 2016 Jun 2.
BACKGROUND: Video EEG (VEEG) is performed for most pediatric patients in order to evaluate unclear paroxysmal events and improve our understanding of difficult to control epileptic patients.PURPOSE: To characterize the video EEG studies on children who are not candidates for surgery in order to iden
PMID 27344945

A Systematic Review of Psychiatric and Psychosocial Comorbidities of Genetic Generalised Epilepsies (GGE).

Loughman A1,2, Bendrups NA3, D'Souza WJ4.
Neuropsychology review.Neuropsychol Rev.2016 Oct 10. [Epub ahead of print]
Psychiatric disorders and associated poor psychosocial outcomes are recognised to be a common sequelae of epilepsy. The extent to which this is true of genetic generalised epilepsies (GGE), particularly syndromes other than juvenile myoclonic epilepsy (JME) is unclear. This systematic review synthes
PMID 27726043

Japanese Journal

MERRF様の筋病理を呈したMELASの1例

臨床神経学 advpub(0), 2016
NAID 130005132732

臨床研究・症例報告ミオクローヌスてんかんを認めたIgA血管炎の女子例

小児科臨床 68(11), 2089-2093, 2015-11
NAID 40020618390

ミトコンドリア心筋症 (特集希少な心血管疾患を見直す)

循環器内科 = Cardioangiology 78(4), 319-324, 2015-10
NAID 40020624757

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リンク元	「ミオクローヌス性てんかん」
拡張検索	「myoclonic epilepsy and ragged red fibers」「progressive myoclonic epilepsy」「benign adult familial myoclonic epilepsy」「juvenile myoclonic epilepsy」
関連記事	「epilepsy」「myoclonic」