myotonic myopathy

筋緊張性ミオパチー

関

myotonic disorder、paramyotonia congenita、PROMM、proximal myotonic myopathy

WordNet

1. any pathology of the muscles that is not attributable to nerve dysfunction
2. of or relating to or caused by myotonia

UpToDate Contents

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• 1. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
• 2. 小児における外眼筋に影響するミオパチー myopathies affecting the extraocular muscles in children
• 3. 全身性疾患のミオパシー myopathies of systemic disease
• 4. 筋強直性ジストロフィー：病因、臨床的特徴、および診断 myotonic dystrophy etiology clinical features and diagnosis
• 5. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn

English Journal

• An update on RNA-targeting therapies for neuromuscular disorders.

• Jirka S1, Aartsma-Rus A.
• Current opinion in neurology.Curr Opin Neurol.2015 Oct;28(5):515-21. doi: 10.1097/WCO.0000000000000235.
• PURPOSE OF REVIEW: Antisense-mediated modulation of transcripts is a dynamic therapeutic field, especially for neuromuscular disorders.RECENT FINDINGS: For three diseases, this approach has advanced to the clinical trial phase, that is Duchenne muscular dystrophy, spinal muscular atrophy and myotoni
• PMID 26280937

• Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy.

• Bisset DR1, Stepniak-Konieczna EA1, Zavaljevski M1, Wei J1, Carter GT2, Weiss MD3, Chamberlain JR4.
• Human molecular genetics.Hum Mol Genet.2015 Sep 1;24(17):4971-83. doi: 10.1093/hmg/ddv219. Epub 2015 Jun 16.
• RNA interference (RNAi) offers a promising therapeutic approach for dominant genetic disorders that involve gain-of-function mechanisms. One candidate disease for RNAi therapy application is myotonic dystrophy type 1 (DM1), which results from toxicity of a mutant mRNA. DM1 is caused by expansion of
• PMID 26082468

• Use of Clinical and Electrical Myotonia to Differentiate Childhood Myopathies.

• Ghosh PS1, Sorenson EJ2.
• Journal of child neurology.J Child Neurol.2015 Sep;30(10):1300-6. doi: 10.1177/0883073814559646. Epub 2015 Jan 30.
• We retrospectively reviewed 2030 childhood electromyograms performed over an 11-year period (2004-2014). Twenty children (1%) with myotonic discharges were identified and placed into 2 groups. Group A (electrical and clinical myotonia) comprised 9 children (8 with myotonia congenita and 1 with param
• PMID 25637645

Japanese Journal

• 心筋症をきたす筋疾患 (特集 心疾患の病理)

• 遠藤 ゆかり,西野 一三
• 循環器内科 72(6), 599-609, 2012-12-00
• NAID 40019549274

• New Classification and Treatment for Myotonic Disorders

• Kurihara Teruyuki
• Internal Medicine 44(10), 1027-1032, 2005
• … Most common myotonic disorder is myotonic dystrophy which is now termed DM1, myotonic dystrophy type 1. … In Japan, proximal myotonic myopathy, which is now called DM2 has not been reported. … There are other myotonic disorders related to Na channelopathy which include three disorders: paramyotonia congenita, adynamia episodica hereditaria, and myotonia fluctuans. …
• NAID 130000085263

• ミオトニー疾患とチャネロパチー

• 栗原 照幸
• 日本内科学会雑誌 93(3), 510-514, 2004-03-10
• NAID 10012880687

Related Links

• Myotonic Dystrophy Type 2 - GeneReviews™ - NCBI Bookshelf

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology. 1994; 44:1448–52. [PubMed: 8058147] Rotondo G, Sansone V, Cardani R, Mancinelli E, Krahe R, Stangalini D [] ...

• congenital myotonic myopathy - definition of congenital ...

myopathy /my·op·a·thy/ (mi-op´ah-the) any disease of muscle.myopath´ic centronuclear myopathy myotubular m. mitochondrial myopathy any of a group of myopathies associated with an increased number of large, often abnormal ...

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★リンクテーブル★

リンク元	「myotonic disorder」「筋緊張性ミオパチー」
関連記事	「myotonic」

「myotonic disorder」

　　[★]

• 筋緊張性障害、ミオトニー疾患

関

myotonic myopathy、paramyotonia congenita、PROMM、proximal myotonic myopathy

「筋緊張性ミオパチー」

　　[★]

英

myotonic myopathy

関

先天性パラミオトニー、近位型筋強直性ミオパチー、筋緊張性障害

「myotonic」

　　[★]

• 筋緊張性の、筋強直性の