hereditary neuropathy with liability to pressure palsies

遺伝性圧過敏性ニューロパチー

WordNet

1. the force applied to a unit area of surface; measured in pascals (SI unit) or in dynes (cgs unit); "the compressed gas exerts an increased pressure" (同)pressure level, force per unit area
2. an oppressive condition of physical or mental or social or economic distress
3. the somatic sensation that results from applying force to an area of skin; "the sensitivity of his skin to pressure and temperature was normal" (同)pressure_sensation
4. a force that compels; "the public brought pressure to bear on the government"
5. the state of being legally obliged and responsible
6. the quality of being something that holds you back
7. a message whose ingenuity or verbal skill or incongruity has the power to evoke laughter (同)humor, humour, witticism, wittiness

PrepTutorEJDIC

1. 《方向》(1)(到着の意を含めて)…『へ』,に,まで / 《状況の変化》…[のほう]へ;…に[なるまで],その結果…になる / 《適用範囲》(1)《動詞に伴って》『…に対して』,に,へ / (2)《形容詞[句]・[代]名倍に伴って》『…に対して』 / 《程度・範囲》『…[に至る]まで』 / 《時間の終り》『…まで』(till) / 《to one's+『名』の形で》(…が)『…したことに[は]』 / 《比較・対比・割合》『…と比べて』,より,に対して / 《一致・適合》『…に合わせて』,に合って,に応じて / 《目的・意図》『…のために』 / 《運命・境遇》『…に』 / 《所属・関係》『…へ』,に[対して] / 《付加・付着・固執》『…に』 / 《対立・対向》…に[対して] / いつもの状態(位置)に / 停止(閉鎖)の状態に / 活動状態に(へ),仕事に
2. 《名詞的用法》『…すること』 / 《形容詞的用法》『…するための,すべき』 / 《副詞的用法》『…するために』,して,するとは,すれば / 《独立用法》 / 《文全体を修飾する慣用語句》…すれば,してみると,…だが / 短縮文
3. 〈U〉『押すこと』,『押しつけること』,圧搾,圧縮;〈C〉〈U〉『圧力』,圧力の強さ / 〈U〉『圧迫』,『強制』 / 〈U〉(不快な)圧迫感 / 〈C〉〈U〉(精神的な)重荷,苦脳;(時間・金銭的)切迫 / 〈U〉多忙,あわただしさ / 《おもに米》…‘に'圧力をかける,強制する(《英》pressurise)
4. 《随伴・協調》…『と』,と共に,といっしょに / 《所有・所持》…『を持っている』,がある,の付いた / 《道具・手段》…『で』,を使って / 《財料・供給物》…『で』,を与えて / …を支持して,に賛成して / …『に反対(敵対)して』,を相手として / …『と同時に』,と同様に / …『に比べて』,に比例して / 《様態》《名詞を伴い副詞句として》『…で』,を示して,をもって / 《付帯状競》…『して』,しながら / 《譲歩》…がありながら,にもかかわらず / 『…が原因で』,のために,…で / …に任せて,のもとにあずけて,のところに / …に関して,について / …から離れて / 《連結・混合》…と / 《副詞と共に命令文で》
5. 〈U〉(…の)傾向のあること《+『to』+『名』》 / 〈U〉(特に債務などに対する)責任・義務 / 〈C〉不利な点,ハンディキャップ / 〈C〉《複数形で》《単数扱い》負債
6. 知る(know)
7. 〈U〉『機知』,機転,ウィット / 〈C〉『機知に富む人』,機転のきく人 / 《複数形で;単数扱い》『理解(表現)力』,知性 / 《複数形で》(物事を見抜いたりもくろんだりする)才覚,才知 / 《複数形で;単数扱い》正気

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/05/28 13:38:06」(JST)

wiki en

[Wiki en表示]

Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is a peripheral neuropathy (disorder of the nerves).

Nerve with myelin sheath

General description

HNPP is a nerve disorder that affects the peripheral nerves. The main effect of HNPP are pressure palsies. Pressure on the nerves causes tingling sensations, numbness and even weakness and muscle atrophy.

In normal individuals these symptoms disappear quickly but in sufferers of HNPP even a short period of pressure can cause the symptoms to occur. These usually subside over an extended period of time . Palsies can last from minutes, day to weeks or even months.

HNPP evolves slowly with symptoms surfacing between 20 and 40 years.^{[citation needed]}

The symptoms vary from person to person. 80-90% of sufferers report minor problems, whilst others experience severe discomfort. In many cases the symptoms are mild enough to go unnoticed. The time period between episodes is known to vary between individuals. HNPP has not been found to alter the lifespan, although in some cases a decline in quality of life is noticed.

Although it is widely believed that HNPP is a painless disorder some sufferers (10-15%) report various pains growing in severity with progression of the disease.^{[citation needed]}

The nerves most commonly affected are the peroneal nerve at the fibular head (leg and feet), the ulnar nerve at the elbow (arm) and the median nerve at the wrist (palm, thumbs and fingers).

HNPP is part of the group of Hereditary Motor and Sensory Neuropathy (HMSN) and is linked to Charcot Marie Tooth disease (CMT).

Diagnosis

HNPP can be diagnosed by a genetic bloodtest. Measuring nerve conduction velocities may also give an indication of the presence of the disease.

Causes

HNPP is an autosomal dominant genetic disease. A mutation in one copy of the gene PMP-22 (Peripheral myelin protein 22, 17p11.2) that makes the peripheral myelin protein causes haploinsufficiency, where the activity of the normal gene is insufficient to compensate for the loss of function of the other gene. The lack of myelin causes the nerves to be poorly insulated and it is this that causes symptoms. On visualization the nerves have a sausage like appearance that blocks the nerve signals (hence the name 'tomaculous neuropathy' that is sometimes used for HNPP).

Both male and females are equally affected. A child has a 50% chance of inheriting the disease if one parent is a sufferer of the disease. It is estimated that it occurs in 2 to 5 in 100000 individuals.

Nervous system : peroneal, ulnar and medain nerve

Cure

Currently there are no effective treatments but it is a possible candidate for gene therapy. Currently simple adjustments to the individuals lifestyle are the best treatment in order to avoid excess pressure on the nerves. Avoiding repetitive injury of a nerve is important, as this makes the symptoms worse.

Common problems

There are lots of common problems, mainly caused by focused pressure on the nerves :

• Kneeling
• Cutting with scissors
• Holding plastic grocery bags (or carrying anything that gives high pressure on one point)
• Sitting with legs crossed
• Leaning on elbows
• Sleeping in the 'wrong' positions
• Sitting too long in the same position
• Walking in high heels
• Being in the front leaning rest

History

Inherited peripheral nerve disorders were first described by Charcot, Marie and Tooth (1886). De Jong (1947) first described HNPP in a Dutch family. Dyck and Lambert (1968) showed nerve conduction slowing in families using electrophysiological studies. Chance et al. (1993) detected the chromosom deletion in most of the patients with HNPP.

External links

• GeneReviews/NCBI/NIH/UW entry on Hereditary Neuropathy with Liability to Pressure Palsies
• General Information about HNPP : HNPP.org
• General Information about HNPP: HNPP UK
• 'Rare disease means I may wake up unable to move' (case study): BBC News

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies
• 2. シャルコーマリートゥース病などの一次性の遺伝性運動感覚性ニューロパチー hereditary primary motor sensory neuropathies including charcot marie tooth disease
• 3. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
• 4. 手根管症候群の病因 etiology of carpal tunnel syndrome
• 5. 慢性炎症性脱髄性多発神経炎：病因、臨床的特徴、および診断 chronic inflammatory demyelinating polyneuropathy etiology clinical features and diagnosis

English Journal

• Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.

• Chanson JB, Echaniz-Laguna A, Blanc F, Lacour A, Ballonzoli L, Kremer S, Namer IJ, Lannes B, Tranchant C, Vermersch P, de Seze J.SourceDepartment de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 1 avenue Molière, Strasbourg 67000, France. jean-baptiste.chanson@chru-strasbourg.fr
• Journal of neurology, neurosurgery, and psychiatry.J Neurol Neurosurg Psychiatry.2013 Apr;84(4):392-7. doi: 10.1136/jnnp-2012-303725. Epub 2012 Dec 15.
• BACKGROUND: Mutations of the peripheral myelin protein-22 (PMP22) gene are the most common cause of inherited disease of the peripheral nervous system (PNS), with its deletion resulting in hereditary neuropathy with liability to pressure palsies (HNPP), and its duplication inducing Charcot-Marie-Too
• PMID 23243264

• The PMP22 gene and its related diseases.

• Li J, Parker B, Martyn C, Natarajan C, Guo J.SourceVA Tennessee Valley Healthcare System, 1310 24th Avenue South, Nashville, TN 37212, USA. Jun.li.2@vanderbilt.edu
• Molecular neurobiology.Mol Neurobiol.2013 Apr;47(2):673-98. doi: 10.1007/s12035-012-8370-x. Epub 2012 Dec 7.
• Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin of the peripheral nervous system. Levels of PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for >50 % of all patients with inherited peripheral neu
• PMID 23224996

Japanese Journal

• Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

• Journal of human genetics 55(11), 771-773, 2010-11-01
• NAID 10030737757

• 症例 腕神経叢より近位部での異常が考えられた遺伝性圧脆弱性ニューロパチーの1例

• 臨床脳波 49(7), 463-466, 2007-07
• NAID 40015546854

• Hereditary neuropathy with liability to pressure palsies in childhood : report of a case and a brief review

• Brain & development 27(2), 152-154, 2005-02-01
• NAID 10015453376

Related Links

• Hereditary neuropathy with liability to pressure palsies - Genetics ...

The NIH explains this disorder that affects peripheral nerves.

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★リンクテーブル★

リンク元	「遺伝性圧過敏性ニューロパチー」「HNPP」「tomaculous neuropathy」
関連記事	「liability」「hereditary」「ting」「toed」「neuropathy」

「遺伝性圧過敏性ニューロパチー」

　　[★]

英

hereditary pressure sensitive neuropathy, hereditary neuropathy with liability to pressure palsies

関

ソーセージ様ニューロパチー

「HNPP」

　　[★]

同

hereditary neuropathy with liability to pressure palsies

「tomaculous neuropathy」

　　[★]

関

hereditary neuropathy with liability to pressure palsies

「liability」

　　[★]

• n.

• 責務、責任、(+to;病気などのかかりやすさ)傾向

関

apt、bias、proclivity、prone、responsibility、tendency、trend

　 　 　

「hereditary」

　　[★]

• adj.

• 遺伝性の、遺伝の

関

heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited

　

「ting」

　　[★]

• vi.

• (鈴などが)チリンチリンと鳴る

• vt.

• (鈴などを)チリンチリンと鳴らす

• n.

• (鈴などの)チリンチリンと鳴る音

「toed」

　　[★]

• adj.

• 足指のある、つま先のある、(くぎを)斜めに打ち込んだ

「neuropathy」

　　[★] ニューロパチー

同

NARP