眼咽頭型筋ジストロフィー
WordNet
- any degenerative disorder resulting from inadequate or faulty nutrition
PrepTutorEJDIC
- 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)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/09/15 12:40:05」(JST)
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Oculopharyngeal muscular dystrophy |
Classification and external resources |
ICD-10 |
G71.0 |
ICD-9 |
359.1 |
OMIM |
164300 |
DiseasesDB |
29869 |
MeSH |
D039141 |
GeneReviews |
- Oculopharyngeal Muscular Dystrophy
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Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant[1] neuromuscular disease which appears in early middle age (fifth decade).[2] OPMD is an example of a trinucleotide repeat disorder caused by expanding (GCN)10 to (GCN)11-17 at the 5' end of the coding region for PABPN1. This expands the polyalanine tract at the N-terminus of PABPN1 from 10 to 11-17 alanines.[3][4]
Contents
- 1 Signs and symptoms
- 2 Diagnosis
- 3 Epidemiology
- 4 Treatment
- 5 References
- 6 External links
Signs and symptoms[edit source | edit]
Progressive ptosis (drooping of eyelids) and weakness of the extraocular muscles is the initial clinical finding.. Dysphagia (difficulty swallowing) and proximal limb weakness develops later on in the disease. [2]
Diagnosis[edit source | edit]
A muscle biopsy used to be the only method to diagnose the condition. Today a simple blood draw with genetic testing for the PABPN1 gene is more common. A distinction between OPMD and myasthenia gravis or mitochondrial myopathy must be made. The absence of family history and the fluctuation of symptoms in myasthenia gravis usually distinguish the two conditions.[5]
Epidemiology[edit source | edit]
The disease is frequently seen in French Canadians, with a prevalence 1:1000. A 1997 study from Israel showed the second largest cluster of known individuals are of Bukhara Jews from Uzbekistan, with a calculated minimal prevalence of 1:600. [6] The disease is uncommon in Asian populations. [7]
Treatment[edit source | edit]
Treatment is supportive to the patient. The condition does not generally reduce lifespan. Extreme difficulty in swallowing may result in the insertion of a gastrointestinal feeding tube.[3] Some surgeries are available that can reduce ptosis and dysphagia.[8]
References[edit source | edit]
- ^ Davies Je, B. Z.; Berger, Z.; Rubinsztein, D. C. (February 2006). "Oculopharyngeal muscular dystrophy: Potential therapies for an aggregate-associated disorder". The International Journal of Biochemistry & Cell Biology 38 (9): 1457–1462. doi:10.1016/j.biocel.2006.01.016. PMID 16530457. edit
- ^ a b Brais B, Bouchard JP, Xie YG, et al. (Feb 1998). "Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy". Nat. Genet. 18 (2): 164–7. doi:10.1038/ng0298-164. PMID 9462747.
- ^ a b Lindsay, Kenneth W; Ian Bone, Robin Callander, J. van Gijn (1991). Neurology and Neurosurgery Illustrated. United States: Churchill Livingstone. p. 453. ISBN 0-443-04345-0.
- ^ Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I (2005). "Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman". Neuromuscul. Disord. 15 (3): 262–4. doi:10.1016/j.nmd.2004.10.016. PMID 15725589.
- ^ GeneReviews/NCBI/NIH/UW entry on Oculopharyngeal Muscular Dystrophy
- ^ Blumen SC, Nisipeanu P, Sadeh M, et al. (October 1997). "Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel". Neuromuscul. Disord. 7 (Suppl 1): S38–40. PMID 9392014.
- ^ http://memo.cgu.edu.tw/cgmj/3301/330105.pdf
- ^ Brais, B (2009 Jan). "Oculopharyngeal muscular dystrophy: a polyalanine myopathy.". Current neurology and neuroscience reports 9 (1): 76–82. PMID 19080757.
External links[edit source | edit]
- opmd at NIH/UW GeneTests
- Muscular Dystrophy Association's website in Greece
- Oculopharyngeal muscular dystrophy at NIH's Office of Rare Diseases
- GeneReviews Washington State University, funded by NIH
Muscular dystrophy
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The Nine Primary Muscular Dystrophies |
Congenital • dystrophin (Becker's, Duchenne) • Distal • Emery-Dreifuss • Facioscapulohumeral • Limb-girdle muscular dystrophy • Myotonic • Oculopharyngeal
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Related topics
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National/International Organizations |
Muscular Dystrophy Association (USA) • Muscular Dystrophy Canada • Myotonic Dystrophy Foundation
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US government Institutes and Legislation |
NINDS • NIAMS • NICHD • MD CARE Act • Genetic Information Nondiscrimination Act • Americans with Disabilities Act of 1990
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National/International Events |
MDA Muscle Walk (USA) • MDA Show of Strength (USA) • Décrypthon (France)
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Recent or Ongoing Clinical Trials |
Stamulumab (MYO-029)
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anat (h/n, u, t/d, a/p, l)/phys/devp/hist
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noco (m, s, c)/cong (d)/tumr, sysi/epon, injr
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Diseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)
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Neuromuscular-
junction disease |
- autoimmune
- Myasthenia gravis
- Lambert–Eaton myasthenic syndrome
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Myopathy/
congenital myopathy |
Muscular dystrophy
(DAPC) |
AD |
- Limb-girdle muscular dystrophy 1
- Oculopharyngeal
- Facioscapulohumeral
- Myotonic
- Distal (most)
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AR |
- Limb-girdle muscular dystrophy 2
- Congenital
- Fukuyama
- Ullrich
- Walker–Warburg
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XR |
- dystrophin
- Emery–Dreifuss
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Other structural |
- collagen disease
- PTP disease
- adaptor protein disease
- BIN1-linked centronuclear myopathy
- cytoskeleton disease
- Nemaline myopathy
- Zaspopathy
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Channelopathy |
Myotonia |
- Myotonia congenita
- Thomsen disease
- Neuromyotonia/Isaacs syndrome
- Paramyotonia congenita
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Periodic paralysis |
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Other |
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Mitochondrial myopathy |
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Other |
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anat (h/n, u, t/d, a/p, l)/phys/devp/hist
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noco (m, s, c)/cong (d)/tumr, sysi/epon, injr
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Disorders of transcription and post transcriptional modification
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Chromatin remodeling |
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Polyadenylation |
- PABPN1 (Oculopharyngeal muscular dystrophy)
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RNA splicing |
- PRPF31 (Retinitis pigmentosa 11)
- PRPF8 (Retinitis pigmentosa 13)
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- See also
- transcription
- post transcriptional modification
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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UpToDate Contents
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English Journal
- Cricopharyngeal Dilatation for the Long-term Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy.
- Manjaly JG, Vaughan-Shaw PG, Dale OT, Tyler S, Corlett JC, Frost RA.SourceDepartments of ENT and Radiology, Salisbury NHS Foundation Trust, Salisbury, UK, joemanjaly@doctors.org.uk.
- Dysphagia.Dysphagia.2011 Jul 30. [Epub ahead of print]
- Oculopharyngeal muscular dystrophy (OPMD) is a rare autosomal dominant, progressive degenerative muscle disorder featuring dysphagia with limited therapeutic options. The aim of this study was to evaluate the safety and efficacy of repeated endoscopic dilatation for OPMD over a 15-year period. All p
- PMID 21805106
- Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.
- Robinson DO, Hilton-Jones D, Mansfield D, Hildebrand GD, Marks S, Mechan D, Ramsay J.SourceWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK; Human Genetics Division, Southampton University School of Medicine, Southampton, Hants SO16 6YD, UK.
- Neuromuscular disorders : NMD.Neuromuscul Disord.2011 Jul 8. [Epub ahead of print]
- Oculopharyngeal muscular dystrophy is a neuromuscular disease usually presenting in the 5th or 6th decades of life with a dominant inheritance pattern. In almost all cases the cause of the disease is the expansion of a DNA repeat sequence containing GCG and GCA codons in exon 1 of the PABPN1 gene fr
- PMID 21742497
Japanese Journal
- 眼瞼下垂・眼球運動障害を示す神経・筋疾患の3病態 : Seronegative Myasthenia Gravis (SNMG), Congenital Fibrosis of the Extraocular Muscles (CFEOM) 症候群, Oculopharyngeal Dystrophy (OPMD)
- 佐橋 功,衣斐 達
- 神経眼科 = Neuro-ophthalmology Japan 22(2), 259-265, 2005-06-25
- NAID 10020467897
- PABPN1遺伝子(GCG)_8のヘテロ変異が同定された老年期発症の眼咽頭筋ジストロフィーの1例
- 徳武 孝允,池内 健,田中 惠子,小野寺 理,西澤 正豊
- 臨床神経学 : CLINICAL NEUROLOGY 45(6), 437-440, 2005-06-01
- NAID 10016565161
Related Links
- Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant neuromuscular disease which appears in early middle age (sixth decade). It is caused by a mutation in the PABPN1 gene. ...
Related Pictures
★リンクテーブル★
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- 英
- oculopharyngeal muscular dystrophy OPMD, oculopharyngeal dystrophy
- 同
- 眼咽頭筋ジストロフィー
- 関
- 眼咽頭遠位型ミオパチー
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[★]
- (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。