FSHD Newsletter Special Edition – Published October 2025

FSHD JAPAN Newsletter Special Edition

At the May 2025 Therapeutic Education Workshop, we invited leading experts from Japan and abroad to learn about the latest research, clinical care, and rehabilitation approaches for FSHD and muscular disorders.

This issue summarizes those presentations for your reference.

Presentation Report ①

“Practical Physical Therapy for Muscular Dystrophy”

Lecturer: Professor Kumi Nishizawa (Department of Physical Therapy, School of Health Sciences, Shinshu University)

Presentation Highlights

◇ Initiatives in Nagano Prefecture

Established a “Muscular Dystrophy Care Network” through multidisciplinary collaboration despite the absence of specialized hospitals.

Doctors, therapists, and schools cooperate to build a community-wide support system for patients.

◇Fundamentals and Limitations of Physical Therapy

Under Japan's system, physical therapists require physician prescriptions and cannot practice independently.

Despite these constraints, we continue to innovate to improve quality of life.

◇Practical Assessment and Intervention

Assessment: NSAA, 6-Minute Walk Test, muscle strength and respiratory function measurements.

Intervention: Light splints, stretching, collaborative support with schools.

◇Challenges and New Initiatives

Difficulty adjusting exercise intensity while accounting for fatigue.

Elucidating the causes of joint contractures.

New attempts using electrical stimulation.

Survey on physical function decline due to the COVID-19 pandemic.

◇Potential of Exercise Therapy

Effects of aerobic exercise and interval training.

Reports indicate links to muscle regenerative cell activation and telomere maintenance.

◇Practical Proposals

Recommend moderate exercise (60-75% of maximum heart rate).

Ensure safety through individualized programs.

Warm-ups focusing on diaphragmatic breathing are effective.

◇Strategies for Enjoyable Continuation

Maintaining cognitive function through e-sports.

Walking assistance via wheelchair skiing and HAL.

◇Summary

“Physical therapy that is enjoyable, safe, and sustainable long-term” is crucial. Creating an environment where individuals can engage proactively, supported by specialists and family cooperation, is key.

Lecture Report ②

“Fundamental Knowledge of Exercise and Nutrition Supporting Skeletal Muscle Health”

Lecturer: Dr. Miho Kanazashi (Hiroshima Prefectural University)

Lecture Points

◇Muscle Functions

Muscles affect the entire body not only through movement but also via metabolic regulation and myokine secretion.

The ratio of slow-twitch to fast-twitch muscle fibers changes based on nutrition and exercise type.

◇Nutrition and Muscle

Morning protein intake is effective for enhancing daily muscle synthesis.

Older adults and those with reduced muscle function are recommended to consume more protein than the general population.

Combining carbohydrates promotes amino acid uptake through insulin action.

Excessive cooking heat may accelerate glycation, potentially harming muscles and blood vessels.

◇Exercise Strategies

Resistance training promotes muscle hypertrophy.

Aerobic exercise contributes to increased capillary density and mitochondrial activation.

Improved blood flow and capillary regeneration are crucial for muscle recovery and growth.

◇Electrical Stimulation Therapy

Electrical stimulation therapy is effective when independent exercise is difficult.

Low frequencies (around 1Hz) provide sustained stimulation, while high frequencies (around 50Hz) contribute to muscle hypertrophy.

◇Antioxidant Nutrients

Foods containing antioxidant components reduce oxidative stress and help protect muscles and blood vessels.

◇Summary

The optimal balance of exercise and nutrition differs for each individual.

Maintaining muscle quality through sustainable exercise and nutritional strategies directly contributes to health maintenance and aging prevention.

Lecture Report ③

“The Significance of DNA Methylation and FSHD”

Lecturer: Dr. Takumi Kishimoto (Ph.D. Researcher, Kyoto University iPS Cell Research Institute)

Key Points of the Lecture

◇What is DNA Methylation?

A mechanism that determines gene expression ON/OFF.

When a methyl group attaches, the gene is inactivated.

◇FSHD and DUX4

DUX4, which should not normally be expressed, functions and damages muscle cells.

FSHD patients show reduced methylation in the DUX4 region.

◇Abnormalities in Early Development

The onset may originate from methylation abnormalities immediately after fertilization.

◇iPS Cell Research

Reproduced low methylation in the DUX4 region using patient-derived iPS cells.

Provides crucial clues to the disease mechanism.

◇Future Prospects

Direct “methylation therapy” remains challenging.

Understanding the mechanism will pave the way for future therapeutic development.

◇Summary

FSHD is a disease of not only “genes” but also “expression regulation (epigenetics)”. Long-term research expands treatment possibilities.

Lecture Report ④

“Overview of FSHD Diagnosis, Treatment, and Therapeutic Development”

Lecturer: Dr. Tsuyoshi Matsumura (Vice President, Special Mission, Osaka Toneyama Medical Center)

Key Points of the Lecture

◇Basic Understanding of the Disease

One of the most common forms of muscular dystrophy in adults.

It is estimated that several thousand patients exist in Japan.

◇Diagnosis and Pathogenesis

Cause: Failure of the suppression mechanism for the DUX4 gene, which is normally not expressed.

Conditions for Onset: Complete presence of DUX4 (4qA haplotype) + reduced DNA methylation (shortening of the D4Z4 repeat sequence [10 repeats or fewer] or pathological changes in chromatin control genes [three genes identified to date]).

Initial Symptoms: Characterized by facial muscle weakness and scapular girdle muscle weakness (e.g., winged scapula), typically affecting both sides asymmetrically.

Progression is downward. Respiratory failure is common in advanced cases. Myocardial involvement is also observed.

◇ Diversity and Challenges

Onset age and severity vary widely even within the same family.

Many atypical cases may remain undiagnosed; many patients discontinue follow-up after diagnosis.

◇ Current Status of Treatment Development

Multiple clinical trials are ongoing overseas.

Clinical trials are also expected to be conducted in Japan.

Japan lags in centralizing patients at specialized institutions and in patient registration/natural history data collection, raising concerns for treatment development.

◇ Role of Patient Organizations

Raising awareness of the necessity to visit specialized institutions.

Promoting patient registration.

Establish data collection and clinical trial participation infrastructure.

◇Future Outlook

Establish an internationally collaborative natural history research framework.

Conduct international clinical trials in Japan.

◇Summary

Centralizing patients at specialized institutions and establishing clinical trial infrastructure are critical.

Treatment development is progressing; establishing natural history data is the top priority.

★Finally

This lecture series explored FSHD from the perspectives of physical therapy, nutrition, molecular research, and clinical practice.

A common theme emerged: the critical importance of creating a support system involving patients, families, healthcare providers, and researchers.

FSHD JAPAN will continue its efforts in information dissemination, networking, and research support, aiming to improve patients' quality of life and accelerate treatment development.

★Request for Support

FSHD JAPAN strives to create a society where patients and their families can live with greater peace of mind. We achieve this through activities like lectures, research support, and information dissemination.

These activities are sustained by your donations and cooperation.

Support is possible starting from just 300 yen per contribution.

Your donations will be used to host public lectures and patient exchange meetings, advance natural history research, collaborate on international treatment development, and provide information to patients and families.

👉 Donations can be made via the URL below.

https://buy.stripe.com/7sYdR88418KF3p01cveEo01

Your support will contribute to future treatment development and improving patients' quality of life.

We sincerely appreciate your warm support.