myotonia dystrophica

筋強直性ジストロフィー

WordNet

1. abnormally long muscular contractions; slow relaxation of a muscle after a contraction

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• 1. 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
• 2. 筋強直性ジストロフィー：予後およびマネージメント myotonic dystrophy prognosis and management
• 3. Mode selection for positive airway pressure titration in adults with obstructive sleep apnea
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• 5. Uncommon congenital adrenal hyperplasias

English Journal

• Truths and misinformation: a qualitative exploration of myotonic dystrophy.

• LaDonna KA1, Ghavanini AA2, Venance SL3.
• The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques.Can J Neurol Sci.2015 May;42(3):187-94. doi: 10.1017/cjn.2015.26. Epub 2015 Apr 13.
• BACKGROUND: Myotonic dystrophy (DM1) is an autosomal dominant, progressive, and multisystem condition that impacts affected individuals physically, socially, and emotionally. Understanding individuals' perceptions of their disease is critical to ensuring appropriate information, education, and couns
• PMID 25867706

• Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.

• Morales F1, Vásquez M2, Cuenca P1, Campos D3, Santamaría C4, Del Valle G5, Brian R6, Sittenfeld M7, Monckton DG8.
• European journal of human genetics : EJHG.Eur J Hum Genet.2015 May;23(5):646-53. doi: 10.1038/ejhg.2014.138. Epub 2014 Jul 23.
• Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat (g.17294_17296(45_1000)) with more repeats associated with increased disease severity and reduced age at onset. Expanded disease-associated alleles are highly unstable in both the germline and soma. Germline instabi
• PMID 25052313

• Phenotypic variability and molecular genetics in proximal myotonic myopathy.

• Papadimas GK1, Kekou K, Papadopoulos C, Kararizou E, Kanavakis E, Manta P.
• Muscle & nerve.Muscle Nerve.2015 May;51(5):686-91. doi: 10.1002/mus.24440. Epub 2015 Mar 31.
• INTRODUCTION: Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the CNBP gene.METHODS: We studied the first 16 Greek DM2 patients who had undergone thorough evaluation.RESULTS: The age at diagnosis ranged from 38 to 69 years. The
• PMID 25186227

Japanese Journal

• Unexpected resistance to pancuronium in a patient with myotonic dystrophy (myotonia dystrophica)

• Journal of anesthesia 14(3), 160-163, 2000-08-20
• NAID 10009925350

• 多くの過剰歯を伴ったCleidocranial dysostosisの1例

• 小児歯科学雑誌 19(1), 106-114, 1981
• NAID 130004632094

• Myotonia dystrophica, an anesthetic hazard : two case reports

• Anesth Analg 54, 216-218, 1975
• NAID 30012763836

Related Links

• myotonia dystrophica - definition of myotonia dystrophica by ...

myotonia [mi″o-to´ne-ah] any disorder involving tonic spasm of muscle. adj., adj myoton´ic. myotonia atro´phica myotonic dystrophy. myotonia conge´nita a hereditary disease marked by tonic spasm and rigidity of certain muscles ...

• Resihi Mushroom and Myotonia Dystrophica

The two forms of myotonic dystrophy, type 1 and type 2, have similar clinical features but are caused by mutations in different genes (DMPK and ZNF9). The mutation that causes myotonic dystrophy is a DNA segment that is ...

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★リンクテーブル★

リンク元	「congenital myotonic dystrophy」
関連記事	「dystrophic」「myotonia」

「congenital myotonic dystrophy」

　　[★] 先天性筋緊張性ジストロフィー、先天性筋強直性ジストロフィー

関

dystrophia myotonica、myotonia dystrophica、myotonic dystrophy

「dystrophic」

　　[★]

• adj.

• ジストロフィーの、異栄養性の

関

dystrophy

「myotonia」

　　[★] 筋緊張症、筋強直