09/28/2015:

姓名:  Katsuya   AGE: 45 yrs. old

国家: Japan

LGMD 子类型:  LGMD2B / MMD (Dysferlinopathy)

 

您在几岁时被确诊:

I was diagnosed at the age of 24.

你最初的症状是什么？

I was not able to jump.

您是否有其他家庭成员患有 LGMD：

Yes

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

It is to support a researcher.

您最大的成就是什么？:

I have established PADJ (Patients Association for Dysferlinopathy Japan) which was established for the communication between Japanese and international patients with dysferlinopathy (Miyoshi myopathy, Miyoshi muscular dystrophy 1 (MMD1) and limb-girdle muscular dystrophy type 2B (LGMB2B), development of early treatment for dysferlinopathy aimed at a complete cure.

LGMD 是如何影响您成为今天的自己的？

I had to change a dream.  It was a very difficult problem.  However, I was able to meet the friend who was in the world.

您希望世界了解 LGMD 的哪些方面？:

The dysferlinopathy (MMD/LSMD2B/ DACM)) is a rare disease.  I do not know the exact number of dysferlinopathy patients in Japan.

It is a form of LGMD.  Let’s do our best together.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

I want to celebrate with family and friends.

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