Katsuya Yagyu

I have Dysferlinopathy(Miyoshi/LGMDR2/DACM).
The disease should not be classified by clinical condition.
Japan Dysferlinopathy Patient Association

[Katsuya Yagyu @Yagyu2p13]

Autosomal recessive muscular dystrophies caused by mutations in the Dysferlin gene have different disease names depending on the phenotype (proximal and distal).🧬🔬🧐
As it stands now, clinical studies, clinical trials, and treatments will be individualized by phenotype.😢
⬇️

[Katsuya Yagyu @Yagyu2p13]

In 2010, I learned that muscle diseases caused by Dysferlin gene mutations are given multiple distinct diagnostic names depending on their clinical phenotypes. Even today, many patients worldwide affected by this condition remain unaware of this fact—which means they do not realize they could be pursuing treatments together. I believe this lack of unified recognition is the single greatest disadvantage facing patients with Dysferlin gene mutations.

In 2000, Dr. Isabel Illa Sendra reported that " For example, it would be reasonable to use the term dysferlinopathies to describe all the diseases due to dysferlin." I fully support this view. Unifying the disease nomenclature will make it possible to efficiently and rationally conduct key initiatives—such as identifying total patient numbers, running natural history studies, applying for research grants and clinical trials, and developing therapeutic drugs.

2000 Distal myopathies
https://t.co/b9ManDIyxx

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

One gene, Multiple disease names:
Differences in diagnostic nomenclature and classification systems across countries are causing patient confusion and slowing the pace of drug development, resulting in practical disadvantages. Non-standardized nomenclature remains a major obstacle to seamless data integration.

We recommend checking what disease names are used in government grant applications. We also need to check whether each country's research budget actually meets its needs.

Proximal muscle dominance(LGMD):
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance(Distal myopathy):
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

Nothing About Us Without Us

[Katsuya Yagyu @Yagyu2p13]

Dysferlinopathy ཟེར་མི་འདི་ Dysferlin ཟེར་བའ���་ཇིན་ (gene) ལུ་སྐྱོན་ཞུགས་པའི་རྒྱུ་རྐྱེན་ལས་བརྟེན་ཏེ་འབྱུང་བའི་ ཤ་གནད་ཀྱི་ནད་གཞི་ཅིག་ཨིན། དེ་འབད་ཐབ་རུང་ Dysferlin གི་ཇིན་ལུ་བརྟེན་ཏེ་བྱུང་བའི་ནད་གཞི་ཚུ་གི་མིང་འདི་ ནད་རྟགས་སྟོན་ཐངས་ཀྱི་དབྱེ་བ་ལས་བརྟེན་ཏེ་ སོ་སོ་སྦེ་བཏགས་དོ་ཡོདཔ་ཨིན།
དེ་འབདཝ་ལས་ རྒྱལ་ཁབ་མང་རབས་ཅིག་ནང་ ནད་གཞི་འདི་ཚུ་གི་རྩ་བ་ ཇིན་གཅིག་ལས་བྱུང་བའི་ ཤ་གནད་ཟད་གྲམ་ (muscular dystrophy) ཨིན་པའི་གནད་དོན་དང་ སྨན་���ཅོས་ཡང་ཅིག་��ར་འབད་ཆོག་པའི་སྐོར་ལས་ མ་ཤེས་མི་མང་པོ་འདུག། དེ་ལས་བརྟེན་ཏེ་ ནད་གཞི་འདི་གི་སྐོར་ལས་ གསོ་བའི་བརྡ་དོན་ངོ་མ་ཚུ་འཐོབ་ནི་ལུ་དཀའ་ངལ་བྱུང་སྟེ་ མི་སྡེ་ནང་ནད་གཞི་འདི་གི་སྐོར་ལས་ ཧ་གོ་ནི་དང་ཤེས་ཡོན་གྱི་མ་ལང་པའི་གནད་དོན་ཐོན་དོ་ཡོདཔ་ཨིན།
འདི་བཟུམ་སྦེ་ར་ འཕྲོ་མཐུད་དེ་སོང་བ་ཅིན་ ནད་པ་དང་ཁོང་གི་ནང་མི་ དེ་ལས་ཨམ་ཅི་ བརྟག་དཔྱད་པ་ སྨན་ཁང་ སྨན་བཟོ་ཁང་དང་ གཞུང་གི་ལས་སྡེ་ཚུ་གི་བར་ན་ མགུ་འཐོམ་ནི་དང་ འབྱུང་ནིའི་ཉེན་ཁ་ཡོདཔ་ཨིན།

Proximal muscle dominance(LGMD):
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance(Distal myopathy):
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

ང་བཅས་ཀྱི་ནད་གཞི་འདི་ དཀོན་པའི་ནད་གཞི་ (rare disease) ཅིག་ཨིན་རུང་ ནད་རྟགས་སྟོན་ཐངས་ཀྱི་དབྱེ་བ་ལས་བརྟེན་ཏེ་ ནད་མིང་སོ་སོ་སྦེ་ཕྱེ་སྟེ་ཡོདཔ་ཨིན། དེ་འབདཝ་ལས་ ནད་པ་ག་དེ་ཅིག་ཡོད་མེད་ཀྱི་གྱངས་ཁ་ངོ་མ་འདི་ ཧ་གོ་ནི་ལུ་དཀའ་ངལ་ཡོདཔ་ཨིན།
ཨིན་རུང་ ནད་པའི་གྱངས་ཁ་ཧ་གོ་ནི་འདི་ གལ་གནད་ཤིན་ཏུ་ཆེ་བ་ཅིག་ཨིན། དེ་ཅི་ལུ་ཟེར་བ་ཅིན་ སྨན་དཔྱད་བརྟག་ཞིབ་ (clinical trials) ནང་ལུ་ ནད་པ་བཅའ་མར་གཏོགས་མི་ཚུ་ འཇམ་ཏོང་ཏོ་སྦེ་བསྡུ་ལེན་འབད་ནིའི་དོན་ལུ་ ག་སྟེ་ལུ་ ནད་རྟགས་ག་བཟུམ་ཡོད་མི་ ནད་པ་ག་དེ་ཅིག་ཡོད་མེད་ཀྱི་གནས་སྡ��ད་ ཧ་གོ་བཞག་དགོཔ་འདི་ ཁག་ཆེ་བའི་ཁུངས་ལས་བརྟེན་ཏེ་ཨིན།
གནས་སྟངས་འདི་བཟུམ་ནང་ སྨན་བཟོ་ཁང་ (pharmaceutical companies) ཚུ་ལུ་ བརྟག་ཞིབ་ཀྱི་དོན་ལུ་ སེམས་ཤུགས་བསྐྱེད་བཅུག་ཚུགས་ག་? དེ་མ་ཚད་ སྨན་བཅོས་ཀྱི་སྨན་གསར་པ་ཚུ་ ཐོན་འོང་ནིའི་རེ་བ་ཡོད་རུང་ དངོས་སུ་སྦེ་སྨན་བཟོ་སྐྲུན་འབད་མི་འདི་ སྨན་བཟོ་ཁང་ཚུ་ར་ཨིན།

ང་བཅས་ཀྱིས་ Dysferlin ཇིན་ ལུ་སྐྱོན་ཞུགས་པའི་རྒྱུ་རྐྱེན་ལས་བརྟེན་ཏེ་འབྱུང་བའི་ ��་གནད་ཀྱི་ནད་གཞི་ཚུ་ཆ་མཉམ་ལུ་ མིང་གཅིག་ "Dysferlinopathy" ཟེར་ ངོས་འཛིན་འབད་བཅུག་ནིའི་དོན་ལུ་ ལས་སྣ་ཚུ་བརྩམ་ནི་ཨིན།
དེ་འབདཝ་ལས་ འདི་ལུ་ཆ་རོགས་དང་རྒྱབ་སྐྱོར་གནང་ཟེར་ ཞུ་ནི་ཨིན།

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

डिस्फरलिनोपैथी उन मांसपेशियों की बीमारियों का एक साम��हिक नाम है जो डिस्फरलिन जीन में उत्परिवर्तन के कारण होती हैं। हालांकि, डिस्फरलिन जीन के उत्परिवर्तन से होने वाली इन बीमारियों के निदान के नाम (निश्चित निदान) उनके फेनोटाइप के आधार पर वर्गीकृत किए जाते हैं। इस कारण से, कई देशों में लोग यह नहीं जानते कि ये एक ही कारण वाले जीन से होने वाली मस्कुलर डिस्ट्रॉफी हैं और इनका उपचार एक साथ किया जा सकता है। इसके परिणामस्वरूप, इस बीमारी के बारे में सटीक ��िकित्सा जानकारी प्राप्त करना कठिन हो जाता है, जिससे समाज में इस बीमारी के प्रति समझ और ज्ञान की कमी होती है। यदि ऐसी ही स्थिति बनी रहती है, तो रोगियों, उनके परिवारों, डॉक्टरों, शोधकर्ताओं, चिकित्सा संस्थानों, दवा कंपनियों और सरकारी एजेंसियों के बीच भ्रम पैदा होने की आशंका है।

Proximal muscle dominance(LGMD):
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance(Distal myopathy):
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

दुर्लभ बीमारी होने के बावजूद, हमारी बीमारी को इसके लक्षणों (फेनोटाइप) के आधार पर कई अलग-अलग नामों में वर्गीकृत किया गया है। इस कारण से, रोगियों की सटीक संख्या का पता लगाना अत्यंत कठिन है।
और रोगियों की वास्तविक संख्या को जानना बेहद मह��्वपूर्ण है। इसका कारण यह है कि क्लीनिकल ट्रायल (नैदानिक परीक्षण) के लिए प्रतिभागियों को सुचारू रूप से जुटाने के लिए हमें यह पता होना चाहिए कि किस तरह की स्थिति वाले कितने रोगी कहाँ हैं।
ऐसी अनिश्चित स्थिति में, क्या हम फार्मास्युटिकल कंपनियों की रुचि इस शोध में जगा पाएंगे? हमें यह समझना होगा कि भले ही संभावित उपचारों की खोज कर ली जाए, लेकिन वास्तव में दवा का निर्माण और उत्पादन फार्मास्युटि��ल कंपनियों द्वारा ही किया जाता है।
हम 'डिस्फरलिनोपैथी' को डिस्फरलिन जीन उत्परिवर्तन से होने वाली ��ांसपेशियों की बीमारियों के आधिकारिक और एकीकृत नाम के रूप में मान्यता दिलाने के लिए काम करेंगे। हम इस दिशा में आपके सहयोग का सादर अनुरोध करते हैं। 🫶

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

Dysferlinopathy（肌膜蛋白病）是由于Dysferlin基因突变引起的一组肌肉疾病的总称。然而，由Dysferlin基因突变所致的肌肉疾病的诊断名称（确诊名称）是根据表现型进行分类的。因此，在许多国家，一些人不知道这些疾病是由相同的致病基因引起的肌营养不良症，也不知道它们可以共同接受治疗。结果，这使��获取有关该疾病的准确医学信息变得困难，并导致社会对该疾病的理解和认知不足。长此以往，我们担心这可能会在患者、其家人、医生、研究人员、医疗机构、制药公司和政府机构等之间造成混乱。

Proximal muscle dominance(LGMD):
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance(Distal myopathy):
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

我们的疾病虽然属于罕见病，却根据表现型被归类为多种疾病名称。因此，准确掌握患者总数非常困难。然而，掌握患者数量是至关重要的。因为若想顺利招募临床试验的受试者**，就必须清楚地了解：患者分布在何处、他们的具体病情如何、以及总共有多少人。在这种情况下，我们如何能够吸引制药企业对该研究产生兴趣呢？毕竟，即使有���在的候选药物被报道，实际制造创新药物的仍是制药企业。

我们将致力于推动将Dysferlinopathy（肌膜蛋白病）认定为由Dysferlin 基因突变引起的一类肌肉疾病的统一病名。恳请您给予支持与合作。🫶

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

디스페를리노병증(Dysferlinopathy)은Dysferlin 유전자 변이에 의해 발생하는 근육 질환을 총칭하는 용어입니다. 그러나 Dysferlin 유전자 변이로 인해 발생하는 근육 질환의 진단명(확정 진단명)은 표현형에 따라 분류됩니다. 이 때문에 많은 국가에서 동일한 원인 유전자로 발병하는 근이영양증이라는 사실이나 함�� 치료를 받을 수 있다는 점을 알지 못하는 분들이 계십니다. 그 결과, 이 질환에 대한 정확한 의학 정보를 얻기가 어려워지고 있으며, 사회 전반에서 이 질환에 대한 이해와 지식의 부족으로 이어지고 있습니다. 이대로는 환자, 그 가족, 의사, 연구자, 의료기관, 제약회사, 정부 기관 등 사이에 혼란이 발생할 우려가 있습니다.

Proximal muscle dominance(LGMD):
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance(Distal myopathy):
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

저희 병은 희귀 질환임에도 불구하고 표현형에 따라 여러 개의 병명으로 분류되어 있습니다. 이 때문에 정확한 환자 수를 파악하기 어렵습니다. 그리고 환자 수를 파악하는 것은 매우 중요합니다. 그 이유는 임상시험 대상을 원활하게 모집하기 위해서는, '어디에', '어떤 병증을 가진 분들이', '몇 명이나 있는지'를 파악하고 있어야 하기 때문입니다. 이러한 상황에서 제약 기업들이 연구에 관심을 갖도록 만들 수 있을까요? 또한, 치료제 후보 물질이 보고되더라도 실제로 신약을 제조하는 것은 제약 기업입니다.

저희는Dysferlinopathy를 Dysferlin 유전자 변이로 인해 발생하는 근육 질환의 통일된 병명으로 인정받기 위해 활동할 것입니다. 협조 부탁드립니다.

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

Dysferlinopathy是由 Dysferlin 基因變異引起之肌肉疾病的總稱。然而，由 Dysferlin 基因變異引起的肌肉疾病診斷名稱（確診名稱），是根據臨床表現型（phenotype）來進行分類的。因此，在許多國家中，有些人並不知道這些是源於同一個致病基因的肌肉萎縮症，也不了解這些患者是可以共同接受治療的。結果導致獲取有關此疾病的正確醫療資訊變得困難，並造成社會大眾對此疾病的理解與知識匱���。若現狀持續下去，恐怕會導致患者、家屬、醫師、研究人員、醫療機構、製薬公司以及政府機關之間產生混亂。

近端肌肉受累為主 (LGMD):
肢帶型肌失養症 R2 / 2B (LGMD R2 / LGMD 2B)
遠端肌肉受累為主 (Distal myopathy):
三好氏肌失養症 (MMD) / 三好氏肌病變 (MM)
伴隨脛前肌發病之遠端肌病變 (DMAT)
遠端前隔間肌病變 (DACM)

雖然我們的疾病屬於罕見疾病，但卻根據表現型（phenotype）被分類為多種不同的病名。因此，要精確掌握正確的患者人數變得十分困難。然而，掌握患者人數是至關重要的事情。其原因在於，若要順利招募臨床試驗的受試者，必須先掌握「哪裡有患者」、「病況如何」以及「共有多少人」。在這種情況下，我們能否引起製藥企業對此研究的興趣呢？此外，即便有了候選藥物的相關報告，最終實際投入藥物研發與製造的，仍是製藥企業。

我們將致力於推動將「Dysferlinopathy」認定為由 Dysferlin 基因變異所引起之肌肉疾病的正式統一病名。為了讓醫療研究能更有效率地進行，並為未來的藥物研發鋪路，這項更名活動至關重要。懇請各位給予支持與協助，與我們共同努力。🫶

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)　
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

Is téarma ginearálta é Dysferlinopathy ar ghrúpa galair mhatánacha a tharlaíonn de bharr sócháin sa ghéin Dysferlin. Mar sin féin, déantar diagnóisí (an diagnóis chinntitheach) na ngalar matánach a eascraíonn as sócháin sa ghéin Dysferlin a chatagóiriú de réir an fhéinitíopa. Dá bharr sin, i go leor tíortha, níl a fhios ag daoine gur diostróife mhatánach é seo a bhfuil an ghéin cúise chéanna leis agus gur féidir leo cóireáil a fháil le chéile. Is deacair mar thoradh air sin eolas cruinn leighis faoin ngalar seo a fháil, rud a chuireann le heaspa tuisceana agus eolais faoin riocht seo sa tsochaí. Tá imní ann go dtiocfaidh mearbhall as seo i measc othar, a dteaghlach, dochtúirí, taighdeoirí, institiúidí leighis, cuideachtaí cógaisíochta, agus gníomhaireachtaí rialtais.

Proximal muscle dominance(LGMD):
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance(Distal myopathy):
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

In ainneoin gur galar neamhchoitianta é ár ngalar, tá sé roinnte ina iliomad ainmneacha bunaithe ar an bhféinitíopa. Dá bharr sin, tá sé deacair líon cruinn na n-othar a chinneadh. Agus tá sé thar a bheith tábhachtach líon na n-othar a bheith ar eolas againn. Is é an chúis atá leis seo ná, chun rannpháirtithe do thrialacha cliniciúla a earcú go héasca, ní mór dúinn a fhios a bheith againn cá bhfuil daoine, cén riocht atá orthu, agus cé mhéad atá ann. An féidir linn a bheith ag súil go mbeidh suim ag cuideachtaí cógaisíochta i dtaighde sa chás seo? Ina theannta sin, fiú má thuairiscítear iarrthóirí cóireála, is iad na cuideachtaí cógaisíochta a mhonaraíonn na cógais nua i ndáiríre.

Beimid ag obair chun Dysferlinopathy a aithint mar ainm galair aontaithe do gach galar matánach a tharlaíonn de bharr sócháin sa ghéin Dysferlin. Iarraimid go fial ar do chomhoibriú. 🫶

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

Dysferlinopathy, Dysferlin genindeki mutasyonlar tarafından neden olunan kas hastalıklarının genel adıdır. Ancak, Dysferlin geninin mutasyonları tarafından neden olunan kas hastalıklarının tanı adı (kesin tanı), fenotipe göre sınıflandırılmaktadır. Bu nedenle, birçok ülkede aynı neden geniyle ortaya çıkan kas distrofisi olduğu ve birlikte tedavi görebileceği konusunda bilgi sahibi olmayan kişiler bulunmaktadır. Bunun sonucunda, bu hastalıkla ilgili doğru tıbbi bilgilere ulaşım zorlaşmakta ve toplumda bu hastalığa yönelik anlayış ve bilgi eksikliğine yol açmaktadır. Bu haliyle devam ederse, hastalar, onların aileleri, doktorlar, araştırmacılar, sağlık kurumları, ilaç şirketleri ve hükümet kurumları gibi paydaşlar arasında bir karışıklık oluşmasından endişe edilmektedir.

Proximal muscle dominance(LGMD):
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance(Distal myopathy):
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

Hastalığımız, nadir bir hastalık olmasına rağmen, fenotiplere göre birden fazla hastalık adına sınıflandırılmıştır. Bu nedenle, kesin hasta sayısını belirlemek zordur. Oysa, hasta sayısını belirlemek son derece önemlidir. Bunun nedeni, klinik deneyler için katılımcıları sorunsuz bir şekilde toplamak için, kimin, nerede, ne tür bir hastalığa sahip olduğunu ve sayılarının kaç olduğunu bilmemiz gerektiğidir. Bu durumda, ilaç şirketlerinin araştırmaya ilgi duymasını sağlayabilir miyiz? Ayrıca, potansiyel tedavi adayları rapor edilse bile, fiilen ilacı üretecek olanlar ilaç şirketleridir.
Biz, Dysferlinopati'nin Dysferlin gen mutasyonu nedeniyle oluşan kas hastalıkları için birleşik bir hastalık adı (Unified Disease Name) olarak onaylanması için çalışmalar yürüteceğiz. İşbirliğiniz için destek rica ederiz. 🫶

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

A disferlinopatia é um termo genérico para doenças musculares causadas por mutações no gene da disferlina. No entanto, o diagnóstico (diagnóstico definitivo) das doenças musculares causadas por mutações no gene da disferlina é classificado de acordo com o fenótipo. Por essa razão, em muitos países, há pessoas que não sabem que são distrofias musculares causadas pelo mesmo gene e que podem ser tratadas em conjunto. Consequentemente, torna-se difícil obter informações médicas precisas sobre esta doença, o que leva à falta de compreensão e conhecimento da mesma na sociedade. A preocupação é que, se a situação persistir, isso possa causar confusão entre pacientes, suas famílias, médicos, pesquisadores, instituições médicas, empresas farmacêuticas e agências governamentais.

Proximal muscle dominance(LGMD):
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance(Distal myopathy):
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

Apesar de a nossa doença ser uma doença rara, ela é classificada em múltiplos nomes de acordo com o fenótipo. Por esse motivo, é difícil obter um número exato de pacientes. E é de extrema importância ter um conhecimento preciso do número de pacientes. A razão para isso é que, para recrutar participantes para ensaios clínicos de forma eficiente, é essencial saber onde, quantos e com que tipo de condição cada paciente está. Nesta situação, será que conseguiremos fazer com que as empresas farmacêuticas se interessem por esta pesquisa? Além disso, mesmo que se chegue a reportar um medicamento candidato para o tratamento, são as empresas farmacêuticas que, de facto, fabricam o medicamento.

Nós iremos trabalhar para que a Disferlinopatia seja reconhecida como um nome unificado para as doenças musculares causadas por mutações no gene da Disferlina. Contamos com a sua colaboração. 🫶

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

La dysferlinopathie est un terme générique désignant un groupe de maladies musculaires causées par des mutations du gène de la dysferline. Cependant, le diagnostic définitif (le nom du diagnostic établi) des maladies musculaires causées par des mutations du gène de la dysferline est classé selon le phénotype. Par conséquent, dans de nombreux pays, des personnes ignorent qu'il s'agit d'une dystrophie musculaire causée par le même gène ou qu'elles peuvent recevoir un traitement conjoint. En conséquence, l'accès à des informations médicales précises sur cette maladie est difficile, ce qui conduit à un manque de compréhension et de connaissance de cette maladie dans la société. Si cette situation perdure, on craint qu'elle n'entraîne une confusion entre les patients, leurs familles, les médecins, les chercheurs, les établissements de santé, les sociétés pharmaceutiques et les agences gouvernementales, etc.

Proximal muscle dominance(LGMD):
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance(Distal myopathy):
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

Bien que notre maladie soit rare, elle est classée sous plusieurs noms en fonction du phénotype. Il est donc difficile d'établir le nombre exact de patients. Or, il est absolument crucial de connaître ce nombre. La raison en est que pour recruter sans difficulté les participants aux essais cliniques, nous devons savoir combien de patients présentent quel type de pathologie et où ils se trouvent. Dans cette situation, pouvons-nous susciter l'intérêt des entreprises pharmaceutiques pour la recherche ? De plus, même si des candidats-médicaments sont rapportés, ce sont les entreprises pharmaceutiques qui fabriquent réellement les médicaments.

Nous allons œuvrer pour que la dysferlinopathie soit reconnue comme le nom unifié des maladies musculaires causées par les mutations du gène de la dysferline. Nous vous demandons de bien vouloir nous apporter votre soutien et votre collaboration. 🫶

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

La disferlinopatia è un termine generale che comprende le malattie muscolari causate da mutazioni nel gene della disferlina. Tuttavia, le diagnosi specifiche (diagnosi definitive) delle malattie muscolari causate da mutazioni nel gene della disferlina sono classificate in base al fenotipo. Di conseguenza, in molti Paesi, alcune persone non sono a conoscenza del fatto che queste siano distrofie muscolari causate dallo stesso gene e che possano ricevere un trattamento comune. Ciò rende difficile l'accesso a informazioni mediche precise su questa patologia, portando a una mancanza di comprensione e conoscenza del disturbo nella società. Si teme che, se la situazione persisterà, possa verificarsi confusione tra pazienti, le loro famiglie, medici, ricercatori, istituti medici, aziende farmaceutiche e agenzie governative.

Proximal muscle dominance:
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance:
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

Nonostante sia considerata una malattia rara, il fenotipo della nostra patologia è classificato in diverse denominazioni. Per questo motivo, è difficile avere un quadro preciso del numero esatto di pazienti. Tuttavia, è di estrema importanza conoscere il numero di pazienti. Questo perché, per reclutare agevolmente i partecipanti agli studi clinici, è fondamentale sapere dove si trovano, quali condizioni specifiche hanno e quanti sono i pazienti. In questa situazione, è possibile che le aziende farmaceutiche si interessino alla ricerca? Inoltre, anche se viene riportato un candidato terapeutico, sono le aziende farmaceutiche che si occupano effettivamente di produrre il farmaco.

Ci impegneremo affinché la Disferlinopatia (Dysferlinopathy) sia riconosciuta come la nomenclatura unificata per le miopatie causate dalle mutazioni del gene della Disferlina (Dysferlin). Vi preghiamo di fornire il vostro supporto e la vostra collaborazione.

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

La disferlinopatía es un término general para las enfermedades musculares causadas por mutaciones en el gen de la disferlina. Sin embargo, los nombres de diagnóstico (diagnóstico definitivo) para las enfermedades musculares causadas por mutaciones en el gen de la disferlina se clasifican según el fenotipo. Por ello, en muchos países, algunas personas no saben que estas son distrofias musculares causadas por el mismo gen y que pueden recibir tratamiento conjunto. Como resultado, resulta difícil obtener información médica precisa sobre esta enfermedad, lo que conduce a una falta de comprensión y conocimiento de la enfermedad en la sociedad. Se teme que, si esto continúa, pueda surgir confusión entre los pacientes, sus familias, médicos, investigadores, instituciones médicas, compañías farmacéuticas y agencias gubernamentales.

Proximal muscle dominance:
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance:
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

A pesar de ser una enfermedad rara, nuestra patología se clasifica bajo múltiples nombres según el fenotipo. Por esta razón, es difícil determinar el número exacto de pacientes. Además, es de vital importancia conocer el número de pacientes. La razón es que, para poder reclutar sin problemas a los participantes de ensayos clínicos, es fundamental saber cuántas personas con qué tipo de condición están ubicadas y dónde. En esta situación, ¿es posible lograr que las compañías farmacéuticas se interesen en la investigación? Incluso si se informa de un fármaco candidato, la realidad es que son las empresas farmacéuticas quienes fabrican los medicamentos innovadores.

Trabajaremos para que la Disferlinopatía sea reconocida como el nombre unificado de las enfermedades musculares causadas por mutaciones en el gen de la disferlina. Agradecemos sinceramente su cooperación y apoyo.

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

Dysferlinopathy is a general term for muscle diseases caused by mutations in the Dysferlin gene. However, the diagnostic names (definitive diagnoses) of muscle diseases caused by Dysferlin gene mutations are classified by phenotype.Therefore, there are people in many countries who are unaware that muscular dystrophy is caused by the same causative gene and that they can receive treatment together. As a result, accurate medical information about this disease is difficult to obtain, leading to a lack of understanding and knowledge about the disease in society. If this continues, it will cause confusion among patients, their families, doctors, researchers, medical institutions, pharmaceutical companies, government agencies, and others.

Proximal muscle dominance:
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance:
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)

Our disease is categorized under multiple different disease names based on its phenotype, despite being a rare disease. This makes it difficult to ascertain the accurate number of patients. Furthermore, knowing the patient count is critically important. This is because, in order to smoothly recruit participants for clinical trials, we must first understand precisely how many patients, with which specific conditions, are located and where. Given this challenging situation, how can we generate research interest from pharmaceutical companies? After all, even when a promising therapeutic candidate is identified, it is the pharmaceutical companies that are responsible for the actual drug development and manufacturing.

We will work towards establishing Dysferlinopathy as the unified name for muscle diseases caused by mutations in the Dysferlin gene. We kindly ask for your cooperation in this endeavor.

To all those worldwide with a Dysferlin gene mutation: Whether their condition is mild or severe, everyone has the capacity to take action. Action is the only way to effect change.

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
Cure Dysferlinopathy(Facebook Community)
Patient Association for Dysferlinopathy Japan(PADJ)

[Katsuya Yagyu @Yagyu2p13]

When expressing the global definition of a rare disease, which is 'fewer than 5 people per 10,000,' as a percentage (%), it comes out to less than 0.05%. In Turkey, the total population in 2024 is reported to be 85.66 million. If the number of LGMD2B patients is approximately 1,500, the percentage is about 0.00117%. I don't believe this number of patients can be considered large. Have any papers or reports regarding this patient count been published? Only patients who have been identified as having the dysferlin gene through genetic testing are included in the actual patient count and are eligible to participate in clinical trials.

Ao expressar a definição mundial de uma doença rara, que é 'menos de 5 pessoas por 10.000', em percentagem (%), o resultado é inferior a 0,05%. Na Turquia, a população total em 2024 é reportada em 85,66 milhões. Se considerarmos que o número de pacientes com LGMD2B é de aproximadamente 1.500 pessoas, a proporção é de cerca de 0,00117%. Não creio que este número de pacientes possa ser considerado grande. Há artigos ou estudos sobre este número de pacientes reportados? Apenas os pacientes confirmados como portadores do gene da disferlina por meio de testes genéticos são incluídos na contagem real de pacientes e são elegíveis para participar em ensaios clínicos.

[Katsuya Yagyu @Yagyu2p13]

Despite being a rare disease, our illness is categorized under multiple disease names based on its phenotype. Consequently, it is difficult to accurately determine the exact patient count.

For example, in a lecture regarding LGMD research, the number of patients with LGMDR2/2B is reported, but because it does not include Miyoshi, DMAT, DACM, and others, the reported number is lower than the actual patient count. Under these circumstances, would it be possible to interest pharmaceutical companies in the research? Furthermore, even when a therapeutic drug candidate is reported, it is the pharmaceutical companies that actually manufacture the medicine.

Furthermore, it is extremely important to know the patient numbers. The reason for this is that in order to quickly recruit subjects for clinical trials, it is necessary to know where the patients are, what their conditions are, and how many there are.

To all those worldwide with a Dysferlin gene mutation: To succeed in a clinical trial, we must solve the issues of time, research funding, patient cooperation, and disease nomenclature (definitive diagnosis name).

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
#CureDysferlinopathy
Japan Dysferlinopathy Patient Association(PADJ)

[Katsuya Yagyu @Yagyu2p13]

Diagnostic names (definitive diagnoses) for muscle diseases caused by mutations in the Dysferlin gene are classified according to phenotype.
As a result, accurate medical information about this disease is difficult to obtain, leading to a lack of understanding and knowledge about the disease in society. The most important problem is that we cannot accurately determine the number of patients.

To friends with Dysferlin gene mutations around the world: We cannot reverse the time that has passed or the progression of the illness. I believe that by using our time effectively, we can solve the problem.

#MiyoshiMuscularDystrophy
#MiyoshiMyopathy
#LGMDR2 #LGMD2B
#DMAT #DACM #Dysferlin
#Dysferlinopathy
#CureDysferlinopathy

[Katsuya Yagyu @Yagyu2p13]

I 'm a patient with Miyoshi muscular dystrophy/Miyoshi Myopathy.
Dysferlinopathy is a general term for muscle diseases caused by mutations in the Dysferlin gene. However, the diagnostic names (definitive diagnoses) of muscle diseases caused by Dysferlin gene mutations are classified by phenotype. Therefore, I deeply feel that there are people in many countries who are unaware that they have a form of muscular dystrophy caused by the same causative gene and that they can receive treatment together.

Proximal muscle dominance :
・Limb girdle muscular dystrophy R2(LGMD R2 / LGMD 2B)
Distal muscle predominance :
・Miyoshi muscular dystrophy(MMD) / Miyoshi myopathy(MM)
・Distal myopathy with anterior tibial onset (DMAT)
・Distal anterior compartment myopathy (DACM)
＊Our disease is classified as a dystrophy because muscle pathology examination does not show any special structures in the muscle cells. The diagnostic names (definitive diagnoses) must also take these test results into account.

To friends with Dysferlin gene mutations around the world: Let's overcome existing difficulties and put an end to the nomenclature problem.

Cure Dysferlinopathy
https://t.co/xYy9c4sy9a