Unverricht-Lundborg syndrome

ウンフェルリヒト・ルントボルク病、Unverricht-Lundborg病

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

UpToDate Contents

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• 1. 遺伝性運動失調の概要 overview of the hereditary ataxias
• 2. 小児における運動過多な運動障害 hyperkinetic movement disorders in children
• 3. ミオクローヌスの分類および評価 classification and evaluation of myoclonus
• 4. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus
• 5. ミオクローヌスの治療 treatment of myoclonus

English Journal

• [Low-dose perampanel improved cortical myoclonus and basophobia in a patient with Unverricht-Lundborg disease: a case report].

• Oi Y, Kobayashi K, Hitomi T, Matsumoto R, Ikeda A, Takahashi R.
• Rinsho shinkeigaku = Clinical neurology. 2018 Oct;58(10)622-625.
• We report a 32-year-old female who presented myoclonus and generalized tonic-clonic seizure since she was 9 year-old. Thereafter, she was diagnosed as Unverricht-Lundborg disease by gene analysis. Although the epileptic seizures were controlled by multiple antiepileptic drugs, her cortical myoclonus
• PMID 30270337

• First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.

• Kim KH, Song JS, Park CW, Ki CS, Heo K.
• Yonsei medical journal. 2018 Aug;59(6)798-800.
• Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associa
• PMID 29978618

• A clinical and neurophysiological motor signature of Unverricht-Lundborg disease.

• Hainque E, Blancher A, Mesnage V, Rivaud-Pechoux S, Bertrand A, Dupont S, Navarro V, Roze E, Gourfinkel-An I, Apartis E.
• Revue neurologique.  ;174(1-2)56-65.
• Unverricht-Lundborg disease (ULD) is the most common form of progressive myoclonus epilepsy. Cerebellar dysfunction may appear over time, contributing along with myoclonus to motor disability. The purpose of the present work was to clarify the motor and neurophysiological characteristics of ULD pati
• PMID 28688606

Japanese Journal

• Univerricht-Lundborg Disease : Underdiagnosed in the Netherlands

• DE HAAN Gerrit-Jan,HALLEY Dicky J. J.,DOELMAN Jan C.,GEESINK Huibert H.,AUGUSTIJN Paul B.,JAGER-JONGKIND Anke D.,MAJOIE Marianne,BADER Adri J.,DOESCHATE Lian A. W. M. Leliefeld-ten,DEELEN Wout H.,BERTRAM Ed,LEHESJOKI Anna E.,LINDHOUT Dick
• Epilepsia : journal of the International League against Epilepsy 45(9), 1061-1063, 2004-09-01
• NAID 10016996693

• Ramsay Hunt syndrome, Unverricht Lundborg disease, or what?

• HARDING AE
• Movement Dis. 4, 18-19, 1989
• NAID 30012624467

Related Links

• Unverricht–Lundborg disease - Wikipedia, the free encyclopedia

Unverricht-Lundborg disease is also known as EPM1, as it is a form of progressive myoclonic epilepsy (PME). Other progressive myoclonic epilepsies include myoclonus epilepsy and ragged red fibers (MERRF syndrome), Lafora disease ...

• Unverricht-Lundborg disease - Genetics Home Reference

Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive ...

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★リンクテーブル★

リンク元	「ウンフェルリヒト・ルントボルク病」「Unverricht-Lundborg病」
関連記事	「syndrome」

「ウンフェルリヒト・ルントボルク病」

　　[★]

英

Unverricht-Lundborg syndrome

同

Unverricht-Lundborg病

関

ミオクローヌスてんかん

「Unverricht-Lundborg病」

　　[★]

英

Unverricht-Lundborg syndrome

関

ウンフェルリヒト・ルントボルク病

「syndrome」

　　[★]

• n.

• 症候群