Myology expert: Yuko Shimizu-Motohashi

Affiliation: National Center of Neurology and Psychiatry, Department of Child Neurology

Position: Chief Physician

What education and training did you have to arrive at your current position?

I had my residency training in the Department of Child Neurology, National Center of Neurology and Psychiatry (NCNP), Japan. This was followed by research work in the Department of Molecular Therapy, NCNP where I learned about exon skipping strategy for Duchenne muscular dystrophy. Because my husband got a position as a postdoc in the USA, i moved to the Division of Genetics, Boston Children’s Hospital, and then to the Department of Neurology, University of Minnesota where I worked as a research fellow. After coming back to Japan, I started working as a pediatric neurologist in NCNP.

What led you to follow a career in field of myology in particular?

My first encounter with neuromuscular disorder was at a very young stage of my career, who the patient was a boy with spinal muscular atrophy with respiratory failure, requiring intubation multiple times. This experience led me to enter the field of neuromuscular disorders. Then, during my child neurology residency training, I got fascinated with the diagnostic procedure of muscular diseases with muscle pathology. I further became motivated to work for the development of innovative therapies for neuromuscular disorders.

What is your current research/ clinical interest in myology?

Clinical research to find better management for patients with neuromuscular disorders.
Clinical trials of innovative therapies.

What is the nature of work you are involved in your institute?

I am a member of the Muscular Disease Center in NCNP.
I take care of diverse types of neuromuscular disorders, and other neurological disorders as well.
I am also involved in clinical trials for neuromuscular disorders.
I organize in-house clinical myology conference to share and update the knowledges.

What is the most challenging neuromuscular case that you encountered during your work?

One of the most challenging is the decision-making process of tracheostomy. For patients with advanced stage respiratory failure, tracheostomy can be life-saving, but at the same time patients may lose the ability to speak which impacts their daily lives.

Another challenge that I am facing is the medical management of SMA. Although we have three drugs approved in Japan, there is no guideline to suggest which drug to choose for each patient, when to stop, or whether to go for a combination therapy.

What are the regional challenges from the point of view of local doctors in the field of myology?

Hospitals or clinics specialized in neuromuscular disorders are not always multidisciplinary. On the other hand, not all medical staff who participate in the ER, surgery, or other specialties are familiar with neuromuscular disorders. Facilitating collaboration and patient information sharing in a multidisciplinary/multi-institutional way is needed.

How does your work help patients in this region?

I support patients, whether in chronic or in acute condition. I am involved in multiple clinical trials to develop novel therapies for patients.

What do you love most about working with neuromuscular disorders patients?

Research on innovative therapies is now in progress, and I am eager to see the change in the clinical course of the patients.

How do you see networking as a way to empower myologists?

It is an exciting and necessary way to connect researchers and clinicians which enables to share and update knowledges.

What inspires you to continue working with neuromuscular disorders patients?

Currently there is no curative therapy for neuromuscular disorders, however, there are treatments that can ameliorate symptoms, and further, innovative therapies to modify the disease course are becoming available.  The desire to support patients with these therapies and managements inspires me to continue working for neuromuscular disorders.

What is one unique fact about you that many other people do not know?

I am not so confident with my knowledge or understanding about my country. This is because I spent the majority of my childhood time in multiple countries outside Japan.  I am thinking that I should learn about my country, to begin with, Japanese history.

How (can) being part of the WMS community encourage you and help your work?

WMS offers me updated information, and provides me a place to communicate with researchers and clinicians globally. WMS also motivates me to pursue better treatment and support for the patients.