Header Ads

test

Help Us Spread The Awareness of GNE Myopathy Worldwide - Do Not Underestimate The Power of One Small Action


                              
We envision a world where myopathies will not impede human aspirations, and where patients, and researchers collaborate on finding a cure for GNE Myopathy

We (patients and family members) are attempting to reach patients in all parts of the world who have been diagnosed with Gne-myopayhy  or are experiencing early signs of this disease. We are kindly asking for your help to translate this flyer into your language, print, and share with doctors,  family members, and other patients.   
**We currently have this flyer translated by patients, and other translators in Arabic, Chinese,French, Hindi, Italian, Farsi , German and Japanese with more languages to be added.  Please contact me if you need a flyer in your language and I will send it to you.
                                                   
                                                                  FLYER


    GNE Myopathy is known by different names such as Hereditary Inclusion Body Myopathy(HIBM), Nonaka Myopathy, Distal Myopathy with Rimmed Vacuoles (DMRV) or Quadriceps Sparing Myopathy and other names. The disease manifests itself in early adulthood. It begins with muscle weakness and ultimately makes the person totally disabled.  It is a recessive genetic disease which means that a person gets one defective copy of the GNE gene from each parent.  The normal GNE gene helps the body to make a sugar (sialic acid) important for muscle function and other activities.
We at GNE Myopathy International (GMI) are dedicated to helping patients with this disease, those who are recently diagnosed, or ones who are yet to be diagnosed, and assist them with finding the necessary resources to make their lives productive and fulfilling. It is very important to get diagnosed early as there are currently two medicines on trial for this disease.  For further details please visit our website (http://gne-myopathy.org/).

Some early signs and symptoms of GNE Myopathy:
*Foot drop with toes stubbing the ground
*Loss of balance and frequent falls
*Weakness in legs, arms, hands, hips, and shoulders
*Cramps in legs, weakness in the hamstrings
*Inability to run or climb stairs
*Difficulty standing on toes or heels

Please feel free to translate this page into your language and share with doctors and anyone with these symptoms.

Please contact specialists in your country, or email us at gne.myopathy@gmail.com

                       Please allow to post this in your clinic/community notice board.
                                 
Here is the Japanese version of the flyer - credit to Yoshio, S.

GNE ミオパチーは、遺伝性封入体ミオパチー(HIBM)埜中ミオパチー、縁取り空胞を伴う遠位型ミオパチー(DMRV)、四頭筋スペアリング・ミオパチー(QSM)などの異なる名称で知られており、成人早期に顕在化する病気です。その症状は、最初に筋力の低下から始まり、最終的には寝たきりとなります。この病気は劣性遺伝病、すなわち患者は両親のそれぞれから受け継いだ GNE 遺伝子の欠陥因子が二つ揃った場合に起きる病気です。正常なGNE 遺伝子は、人体が筋機能やその他の活動にとって重要な糖分(シアル酸)の生成を助けるものです。
我々、GNE ミオパチー・インターナショナル(GMI) の目的は、最近この病気と診断された患者、あるいは正確な診断を必要とする患者の救済に全力を尽くすことにあり、さらに患者が満たされ充実した人生を送れるために必要な情報源を見つけるための援助をすることにあります。
この病気には、2種類の薬が臨床試験中でありますから、早期に診断を受けることが非常に重要です。この詳しい情報は、ウェブサイトをご覧ください  (gne-myopathy.org).

 GNE ミオパチーの初期の症状と特徴:
*垂れ足(つま先が上がりにくくつまずきやすい
*バランスを失い転びやすい
*足、腕、腰、肩の力が弱くなる
*足の痙攣、膝の後ろの筋力が弱くなる
*走ること、階段を昇ることができない
*つま先や踵で立つのが困難

このような症状のある方、および医師にこれを見せてください。

このパンフレットを診療所などの掲示板に貼らせてください。




No comments:

Powered by Blogger.