congenital muscular dystrophy

先天性筋ジストロフィー CMD

WordNet

1. any degenerative disorder resulting from inadequate or faulty nutrition
2. of or relating to or consisting of muscle; "muscular contraction"
3. having or suggesting great physical power or force; "the muscular and passionate Fifth Symphony"
4. present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

PrepTutorEJDIC

1. 栄養障害 / 筋萎縮症,筋ジストロフィー(筋肉の退化・萎縮・運動障害などが起こる病気)
2. 『助肉の』,筋肉でできた / 筋肉による / 筋肉の発達した
3. (病気・身体的欠陥など)生まれつきの,先天的な

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/10/15 18:42:36」(JST)

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Congenital muscular dystrophy
Classification and external resources
ICD-10	G71.2
ICD-9	359.0
eMedicine	neuro/549

Congenital muscular dystrophy (CMD) is muscular dystrophy that is present at birth. CMD includes a number of autosomal recessive diseases of muscle weakness and possible joint deformities, present at birth and slowly progressing. Life expectancies for affected individuals vary, although some forms of CMD do not affect life span at all.

Management

Treatment is supportive.

Physical and occupational therapy, surgery, wheelchairs and other assistive technology may be helpful.

Currently there is no cure.

Classification

All such known dystrophies are genetically recessive and result from mutations in a variety of different genes, including those encoding the laminin-α2 chain, fukutin-related protein, LARGE and fukutin, amongst others.

A classification for CMDs had been proposed in 2004 by Muntoni and Voit, based on genetic mutation.

• Genes encoding for structural proteins of the basal membrane or extracellular matrix of the skeletal muscle fibres.
• Genes encoding for putative or demonstrated glycosyltransferases, that in turn affect the glycosylation of dystroglycan, an external membrane protein of the basal membrane.
• Other

Name	Abbreviation	Group	OMIM	Gene and locus
Laminin-α2–deficient CMD	MDC1A	basal membrane/extracellular matrix	607855	LAMA2 at 6q22-q23
Ullrich congenital muscular dystrophy	UCMDs 1, 2 and 3	basal membrane/extracellular matrix	254090	COL6A1 at 2q37, COL6A2 at 21q22.3, COL6A3 at 21q22.3
Walker-Warburg syndrome	WWS	glycosylation of dystroglycan	236670	POMT1 at 9q34.1 and POMT2 at 14q24.3
Muscle-eye-brain disease	MEB	glycosylation of dystroglycan	253280	POMGNT1 at 1p34-p33
Fukuyama CMD	FCMD	glycosylation of dystroglycan	253800	FKTN at 9q31
CMD plus secondary laminin deficiency 1	MDC1B	glycosylation of dystroglycan	604801	? at 1q42
CMD plus secondary laminin deficiency 2	MDC1C	glycosylation of dystroglycan	606612	FKRP at 19q13.3
CMD with mental retardation and pachygyria	MDC1D	glycosylation of dystroglycan	608840	LARGE at 22q12.3-q13.1
Rigid spine with muscular dystrophy Type 1	RSMD1	other	602771	SEPN1 at 1p36-p35
			613204	ITGA7 at 12q13

Related organizations

Cure CMD, a Congenital Muscular Dystrophy specific non-profit organization, incorporated in May 2008, and received tax exempt 501 (c)(3) status from the IRS in August 2008. Cure CMD’s mission is to bring research, treatments and in the future, a cure for Congenital Muscular Dystrophies. By focusing on this mission, Cure CMD will find and fund high potential research and clinical trials. You can find more information at www.curecmd.org.

See also

• Muscular Dystrophy Association (USA)
• Muscular Dystrophy Campaign (UK)

References

External links

• Cure CMD
• GeneReview/NIH/UW entry on Congenital Muscular Dystrophy Overview
• Muscular Dystrophy Association (Greece)

UpToDate Contents

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• 1. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
• 2. 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
• 3. 先天性ミオパシー congenital myopathies
• 4. 筋緊張低下および脱力を呈する幼児に対するアプローチ approach to the infant with hypotonia and weakness
• 5. 肢帯型筋ジストロフィー limb girdle muscular dystrophy

English Journal

• GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

• Jensen BS1, Willer T2, Saade DN1, Cox MO3, Mozaffar T4, Scavina M5, Stefans VA6, Winder TL7,8, Campbell KP2, Moore SA3, Mathews KD1.
• Human mutation.Hum Mutat.2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898. Epub 2015 Sep 23.
• Mutations in GDP-mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP-mannose, were recently identified as a cause of muscular dystrophy resulting from abnormal glycosylation of α-dystroglycan. In this series, we report nine unrelated individuals with GMPPB-assoc
• PMID 26310427

• Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene.

• Turner C1, Mein R2, Sharpe C3, Love DR4.
• Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia.J Clin Neurosci.2015 Dec;22(12):1983-5. doi: 10.1016/j.jocn.2015.04.016. Epub 2015 Aug 4.
• Merosin deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive disorder characterized by mutations in the LAMA2 gene at chromosome 6q22-23. This gene spans 65 exons and encodes the α2 chain subunit of laminin-2. A variety of deletions, missense, nonsense and splice site mutations
• PMID 26249246

• Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.

• Whittaker RG1, Herrmann DN2, Bansagi B2, Hasan BA2, Lofra RM2, Logigian EL2, Sowden JE2, Almodovar JL2, Littleton JT2, Zuchner S2, Horvath R2, Lochmüller H2.
• Neurology.Neurology.2015 Dec 1;85(22):1964-71. doi: 10.1212/WNL.0000000000002185. Epub 2015 Oct 30.
• OBJECTIVES: To describe the clinical and electrophysiologic features of synaptotagmin II (SYT2) mutations, a novel neuromuscular syndrome characterized by foot deformities and fatigable ocular and lower limb weakness, and the response to modulators of acetylcholine release.METHODS: We performed deta
• PMID 26519543

Japanese Journal

• 縦隔奇形種を合併した福山型先天性筋ジストロフィーの1例

• 梶野 幸子,石垣 景子,島田 姿野,伊藤 進,唐木 克二,川島 章子,土屋 晶義,村上 てるみ,佐藤 孝俊,齊藤 崇,西川 俊郎,世川 修,大澤 眞木子,西川 愛子,KAJINO Sachiko,ISHIGAKI Keiko,SHIMADA Shino,NISHIKAWA Aiko,ITO Susumu,KARAKI Katsuji,KAWASHIMA Shoko,TSUCHIYA Masayoshi,MURAKAMI Terumi,SATO Takatoshi,SAITO Takashi,NISHIKAWA Toshio,SEGAWA Osamu,OSAWA Makiko
• 東京女子医科大学雑誌 83(臨時増刊(大澤眞木子教授退任記念特別)), E358-E361, 2013-01-31
• NAID 120005296664

• 福山型先天性筋ジストロフィーにおける糖代謝

• 小峯 聡,小平 かやの,池谷 紀代子,斎藤 加代子,大澤 眞木子,KOMINE Satoshi,KODAIRA Kayano,IKEYA Kiyoko,SAITO Kayoko,OSAWA Makiko
• 東京女子医科大学雑誌 83(臨時増刊(大澤眞木子教授退任記念特別)), E25-E35, 2013-01-31
• NAID 120005296655

• 福山型先天性筋ジストロフィーにおける発熱性疾患罹患後の筋力低下増悪に対する治療の検討

• 村上 てるみ,石垣 景子,佐藤 孝俊,梶野 幸子,齊藤 崇,大澤 眞木子,MURAKAMI Terumi,ISHIGAKI Keiko,SATO Takatoshi,KAJINO Sachiko,SAITO Takashi,OSAWA Makiko
• 東京女子医科大学雑誌 83(臨時増刊(大澤眞木子教授退任記念特別)), E36-E41, 2013-01-31
• NAID 120005296638

Related Links

• Congenital Muscular Dystrophy | MDA

MDA leads the search for treatments and therapies for congenital muscular dystrophy (CMD). The Association also provides comprehensive supports and expert clinical care for those living with CMD. In this section, you'll find up-to-date ...

Related Pictures

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★リンクテーブル★

リンク元	「筋ジストロフィー」「先天性筋ジストロフィー」「CMD」
拡張検索	「Fukuyama congenital muscular dystrophy」
関連記事	「dystrophy」「congenita」「muscular」「congenital」「muscular dystrophy」

「筋ジストロフィー」

　　[★]

英

muscular dystrophy MD

同

筋異栄養症

関

筋ジストロフィー症、筋ジストロフィ、筋ジス、進行性筋ジストロフィー

			遺伝
デュシェンヌ型筋ジストロフィー	Duchenne muscular dystrophy	DMD	XR
ベッカー型筋ジストロフィー	Becker's muscular dystrophy	BMD	XR
顔面肩甲上腕型筋ジストロフィー	facioscapulohumeral muscular dystrophy	FSHD	AD
肢帯型筋ジストロフィー	limb-girdle muscular dystrophy	LGMD	AR
筋強直性ジストロフィー	myotonic muscular dystrophy	MD	AD, triplet repeat disease
先天性筋ジストロフィー	congenital muscular dystrophy	CMD
福山型先天性筋ジストロフィー	Fukuyama congenital muscular dystrophy	FCMD	AR

「先天性筋ジストロフィー」

　　[★]

英

congenital muscular dystrophy CMD

先天性筋ジストロフィー

• 福山型先天性筋ジストロフィー

「CMD」

　　[★]

• congenital muscular dystrophy, 先天性筋ジストロフィ症
• 嚢胞性中膜変性 cystic medial degeneration

「Fukuyama congenital muscular dystrophy」

　　[★] 福山型先天性筋ジストロフィー

「dystrophy」

　　[★]

• n.

• (医)栄養失調、栄養失調症。(医)異栄養、異栄養症、ジフトロフィー

栄養障害。細胞や組織の物質代謝障害によって変性・萎縮などの起こること。

　 　

「congenita」

　　[★]

• adj.

• (後置するラテン語形容詞)先天性の

関

congenital、congenitally

• ex.

• dyskeratosis congenita、myotonia congenita

「muscular」

　　[★]

• adj.

• 筋肉の、筋の

関

muscle、muscularis、musculus、myo

　 　 　

「congenital」

　　[★]

• adj.

• 生まれつきの、先天的な

　 　

「muscular dystrophy」

　　[★] 筋ジストロフィー MD