distal muscular dystrophy

遠位型筋ジストロフィー

WordNet

1. situated farthest from point of attachment or origin, as of a limb or bone
2. directed away from the midline or mesial plane of the body
3. any degenerative disorder resulting from inadequate or faulty nutrition
4. of or relating to or consisting of muscle; "muscular contraction"
5. having or suggesting great physical power or force; "the muscular and passionate Fifth Symphony"

PrepTutorEJDIC

1. 中心から遠い,末梢(まっしょう)[部]の,末端[部]の
2. 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)
3. 『助肉の』,筋肉でできた / 筋肉による / 筋肉の発達した

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2020/03/29 00:02:16」(JST)

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[Wiki en表示]

Distal muscular dystrophy
Other names	Distal myopathy
DYSF
Specialty	Neurology

Distal muscular dystrophy is a group of disorders characterized by onset in the hands or feet. Many types involve dysferlin, but it has been suggested that not all cases do.

Types

Name	OMIM	Locus
Miyoshi myopathy (in Japan)	254130	DYSF at 2p13.3-p13.1(DYSF is also associated with limb-girdle muscular dystrophy type 2B.)
Distal myopathy with anterior tibial onset	606768	DYSF at 2p13.3-p13.1
Welander distal myopathy	604454	TIA1 at 2p13

Cause

The cause of this dystrophy is very hard to determine because it can be a mutation in any of at least eight genes and not all are known yet. These mutations can be inherited from one parent, autosomal dominant, or from both parents, autosomal recessive. Along with being able to inherit the mutated gene, distal muscular dystrophy has slow progress therefore the patient may not know that they have it until they are in their late 40s or 50s. There are eight known types of distal muscular dystrophy. They are Welander’s distal myopathy, Finnish (tibial) distal myopathy, Miyoshi distal myopathy, Nonaka distal myopathy, Gowers–Laing distal myopathy, Hereditary inclusion-body myositis type 1, Distal myopathy with vocal cord and pharyngeal weakness, and ZASP-related myopathy. All of these affect different regions of the extremities and can show up as early as 5 years of age to as late as 50 years old.

Diagnosis

In terms of diagnosis, Vocal cord and pharyngeal distal myopathy should be assessed via serum CK levels, as well as muscle biopsy of the individual suspected of being afflicted with this condition

Further reading

• Udd, Bjarne (February 2007). "Molecular biology of distal muscular dystrophies—Sarcomeric proteins on top". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1772 (2): 145–158. doi:10.1016/j.bbadis.2006.08.005. PMID 17029922.

External links

Classification	D ICD-10: G71.0 ICD-9-CM: 359.1 OMIM: 254130 604454 606768 MeSH: D049310 DiseasesDB: 31977
External resources	GeneReviews: Dysferlinopathy

UpToDate Contents

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• 1. 肢帯型筋ジストロフィー limb girdle muscular dystrophy
• 2. 顔面肩甲上腕型筋ジストロフィー facioscapulohumeral muscular dystrophy
• 3. 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
• 4. エメリー‐ドレフェス型筋ジストロフィー emery dreifuss muscular dystrophy
• 5. デュシェンヌ型およびベッカー型筋ジストロフィーの臨床的特徴および診断 clinical features and diagnosis of duchenne and becker muscular dystrophy

English Journal

• A Novel Feed-Forward Loop between ARIH2 E3-Ligase and PABPN1 Regulates Aging-Associated Muscle Degeneration.

• Raz V1, Buijze H2, Raz Y3, Verwey N2, Anvar SY2, Aartsma-Rus A2, van der Maarel SM2.Author information 1Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: v.raz@lumc.nl.2Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.3Department of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, The Netherlands.AbstractAlanine expansion mutations in poly(A)-binding protein nuclear 1 (PABPN1) cause muscle weakness in the late-onset disorder oculopharyngeal muscular dystrophy. In affected muscles, expanded PABPN1 forms nuclear aggregates, depleting levels of soluble PABPN1 and inducing a genome-wide shift from distal to proximal polyadenylation site usage. PABPN1 protein accumulation is regulated by the ubiquitin proteasome system, which is highly dysregulated in oculopharyngeal muscular dystrophy. We show that ARIH2 E3-ligase regulates PABPN1 protein accumulation and aggregation. Levels of ARIH2 mRNA are regulated by PABPN1 via proximal polyadenylation site usage. We demonstrate that masking the proximal polyadenylation site in ARIH2 3' untranslated region by antisense oligonucleotides elevates the expression of ARIH2 and PABPN1 and restores myogenic defects that are induced by ARIH2 or PABPN1 down-regulation in cell culture. In vivo ARIH2 mRNA levels significantly decrease from midlife in vastus lateralis muscles and highly correlate with muscle degeneration. We suggest that the expression of both genes is maintained by a feed-forward loop between mRNA stability regulated by PABPN1 and protein turnover regulated by ARIH2.
• The American journal of pathology.Am J Pathol.2014 Apr;184(4):1119-31. doi: 10.1016/j.ajpath.2013.12.011. Epub 2014 Jan 30.
• Alanine expansion mutations in poly(A)-binding protein nuclear 1 (PABPN1) cause muscle weakness in the late-onset disorder oculopharyngeal muscular dystrophy. In affected muscles, expanded PABPN1 forms nuclear aggregates, depleting levels of soluble PABPN1 and inducing a genome-wide shift from dista
• PMID 24486325

• Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies.

• Marttila M1, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.Author information 1The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Finland.AbstractMutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy (NM), cap myopathy, core-rod myopathy, congenital fibre-type disproportion, distal arthrogryposes and Escobar syndrome. We correlate the clinical picture of these diseases with novel (16) and previously reported (31) mutations of the TPM2 and TPM3 genes. Included are altogether 93 families: 53 with TPM2 mutations and 40 with TPM3 mutations. Twenty-seven distinct pathogenic variants of TPM2, and 20 of TPM3, have been published or listed in the Leiden Open Variant Database (http://www.dmd.nl/). Most are heterozygous changes associated with autosomal dominant disease. Patients with TPM2 mutations tended to present with milder symptoms than those with TPM3 mutations, DA being present only in the TPM2 group. Previous studies have shown that five of the mutations in TPM2 and one in TPM3 cause increased Ca2+ sensitivity resulting in a hypercontractile molecular phenotype. Patients with hypercontractile phenotype more often had contractures of the limb joints (18/19) and jaw (6/19) than those with non-hypercontractile ones (2/22 and 1/22), while patients with the non-hypercontractile molecular phenotype more often (19/22) had axial contractures than the hypercontractile group (7/19). Our in silico predictions show that most mutations affect tropomyosin-actin association or tropomyosin head-to-tail binding. This article is protected by copyright. All rights reserved.
• Human mutation.Hum Mutat.2014 Apr 1. doi: 10.1002/humu.22554. [Epub ahead of print]
• Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy (NM), cap myopathy, core-rod myopathy, congenital fibre-type disproportion, distal arthrogryposes and Escobar syndrome. We correlate the clinical picture of these diseases with novel (16) and previously
• PMID 24692096

• DNAJB6 myopathy: A vacuolar myopathy with childhood onset.

• Suarez-Cedeno G1, Winder T, Milone M.Author information 1Medical School, Department of Neurology, Mayo Clinic Foundation, 200 First Street SW, Rochester, Minnesota, 55905, USA; Universidad de Antioquia, Medellin, Colombia.AbstractIntroduction: DNAJB6 mutations cause an autosomal dominant myopathy that can manifest as limb-girdle muscular dystrophy (LGMD1D/1E) or distal-predominant myopathy. In the majority of patients this myopathy manifests in adulthood and shows vacuolar changes on muscle biopsy. Methods: Clinical, electrophysiological, pathological, and molecular findings are reported. Results: We report a 56-year-old woman, who, like 3 other family members, became symptomatic in childhood with slowly progressive limb-girdle muscle weakness, normal serum creatine kinase (CK) values, and myopathic electromyographic findings. Muscle biopsy showed vacuolar changes and congophilic inclusions, and molecular analysis revealed a pathogenic mutation in the DNAJB6 gene. Differences and similarities with previously described cases are assessed. Conclusions: Childhood-onset of DNAJB6 myopathy is more frequent than previously believed; congophilic inclusions may be present in the muscle of these patients. Muscle Nerve 49:607-610, 2014.
• Muscle & nerve.Muscle Nerve.2014 Apr;49(4):607-10. doi: 10.1002/mus.24106. Epub 2014 Feb 24.
• Introduction: DNAJB6 mutations cause an autosomal dominant myopathy that can manifest as limb-girdle muscular dystrophy (LGMD1D/1E) or distal-predominant myopathy. In the majority of patients this myopathy manifests in adulthood and shows vacuolar changes on muscle biopsy. Methods: Clinical, electro
• PMID 24170373

Japanese Journal

• 三好型遠位型筋ジストロフィー─三好型ミオパチー (特集 続・日本人の発見した神経疾患)

• Brain and nerve 63(2), 147-156, 2011-02
• NAID 40018721585

• 筋硬直性ジストロフィー症に併存した胃癌の１例

• 日本臨床外科学会雑誌 71(12), 3119-3122, 2010
• NAID 130004517503

• Early onset distal muscular dystrophy with normal dysferlin expression

• Brain & development 27(8), 589-591, 2005-12-01
• NAID 10016808932

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★リンクテーブル★

リンク元	「遠位型筋ジストロフィー」
関連記事	「distal」「dystrophy」「muscular」「muscular dystrophy」

「遠位型筋ジストロフィー」

　　[★]

英

distal muscular dystrophy

関

遠位型ミオパチー distal myopathy、脛骨筋ジストロフィー tibial muscular dystrophy

「distal」

　　[★]

• adj.

• 遠位の、遠心性の、末端の、遠位性の

関

centrifugal、distalis、distally、distant、efferent、end、extremity、terminal、terminally

　 　 　

「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。

　 　

「muscular」

　　[★]

• adj.

• 筋肉の、筋の

関

muscle、muscularis、musculus、myo

　 　 　

「muscular dystrophy」

　　[★] 筋ジストロフィー MD