ベッカー型先天性筋強直症
WordNet
- write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
- a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
- (biology) the taxonomic group whose characteristics are used to define the next higher taxon
- a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
- all of the tokens of the same symbol; "the word `element contains five different types of character"
- printed characters; "small type is hard to read"
- identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- writing done with a typewriter (同)typewriting
- abnormally long muscular contractions; slow relaxation of a muscle after a contraction
PrepTutorEJDIC
- 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
- (病気・身体的欠陥など)生まれつきの,先天的な
UpToDate Contents
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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 [show details]
… incidence of congenital DM vary widely, ranging from 2.1 to 28.6 per 100,000 live births in different studies, few of which were population based . Myotonic dystrophy type 1 (DM1) and type 2 (DM2)… Myotonia is a slowed relaxation following a normal muscle contraction. Most patients with DM do not describe symptoms referable to the myotonia (unlike patients with myotonia congenita),…
- 2. 色素細胞性母斑(ほくろ)以外の良性色素性皮膚病変benign pigmented skin lesions other than melanocytic nevi moles [show details]
… differential diagnosis of Becker nevi: Clinically, a Becker nevus can be confused with a congenital melanocytic nevus; however, histologically, Becker nevi are not composed… diagnosis of neurofibromatosis type 1 (NF1). Becker nevus is a benign cutaneous hamartoma with epidermal or dermal elements. Most Becker nevi are first noticed around puberty ,…
- 3. 心疾患関連する遺伝性症候群inherited syndromes associated with cardiac disease [show details]
… The congenital form occurs in children born to affected mothers with myotonic dystrophy.… Mutations in the dystrophin gene on the X chromosome produce both Duchenne and Becker muscular dystrophy.… form of hypertrophic cardiomyopathy. This condition is discussed separately. UpToDate offers two types of patient education materials, "The Basics" and "Beyond the Basics." The Basics patient education…
- 4. 脊髄性筋萎縮症spinal muscular atrophy [show details]
… particularly SMA type 0 and type 1 . Less commonly, sleep disturbances can occur in children with SMA , and congenital heart defects may accompany SMA type 0 .… Congenital myotonic dystrophy – The congenital form of myotonic dystrophy (DM1) is characterized by profound hypotonia,…
- 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 [show details]
… The most common diseases are nemaline myopathy, central core disease, myotubular myopathy, congenital fiber type disproportion, and multicore myopathy. The muscular dystrophies are an inherited group … degree of clinical involvement milder in Becker than Duchenne muscular dystrophy. Congenital muscular dystrophies include a number… classic form of myotonic dystrophy has its onset in adolescence or adulthood. The congenital form of the disease occurs in infants born to mothers with myotonic dystrophy.…
English Journal
Japanese Journal
- 結節性硬化症の同胞(兄)を持つBecker型先天性筋強直症の1男児例
Related Links
- Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent ...
- Myotonia congenita (Thomsen disease and Becker type) What is myotonia congenita? Myotonia congenita is an inherited myopathy, a disease that causes problems with the tone and contraction of skeletal muscles. It doesn’t cause ...
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- Becker type congenital myotonia
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- 先天性筋強直症
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- form、mode、pattern、type specimen、typed
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- congenital、congenitally
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