There are things we know and things we don't know.

What we know is that some muscles will waste away and become less active, that there seems to be no decline in mental capacity, and that the heart and internal organs usually remain normal.

What we don't know is how much muscle will waste away and how quickly this will happen.

This varies even within families, with some people showing little physical decline and others requiring respiratory support and wheelchairs, with even their finger muscles deteriorating.

Genetic testing without symptoms is performed overseas, but not in Japan.

Overseas, it is performed at testing facilities such as Bristol Genetics Laboratory.

The DNA problem associated with FSHD is present from birth, but muscle weakness typically begins to become noticeable in the teens.

In men, symptoms usually begin by age 20, and in women, by age 30.

However, in some cases, symptoms are so mild that they go unnoticed until old age.

Conversely, there are also cases where muscle weakness becomes apparent within a few years of birth.

Some FSHD patients experience severe symptoms from an early age.

Approximately 4% of FSHD patients begin to experience weakness in the muscles of the face, arms, and legs before the age of 2.

In some cases, severe hearing loss and visual impairment may also occur.

If your child has FSHD, we recommend regular hearing and vision tests.

Unfortunately, there are currently no approved treatments available.

However, thanks to the efforts of medical professionals, researchers, and pharmaceutical companies, research is progressing, and several potential treatments are currently being developed, primarily overseas. Some of these are already in clinical trials. (For more details, please refer to “Development Status of FSHD Treatments.”)

Much remains unknown about the mechanisms underlying FSHD onset and disease progression. Collecting data from as many patients as possible will help advance research.

By registering with Remudy, a patient registration system, you can contribute to research. As the number of registered patients increases, we can highlight the presence of FSHD patients to medical professionals and pharmaceutical companies. If pharmaceutical companies become aware that many patients in Japan are awaiting treatment options, the likelihood of clinical trials being conducted in Japan will undoubtedly increase.

We encourage you to register with Remudy to support treatment drug development.

Neurological and Muscular Disease Patient Registry Remudy

https://remudy.ncnp.go.jp

There are only a limited number of hospitals that specialize in treating rare diseases such as muscular dystrophy.

Even large or well-known hospitals may not necessarily conduct research on neuromuscular diseases such as muscular dystrophy.

The “Neuromuscular Disease Advanced Medical Care Promotion Council (CCNMD)” is an organization of medical institutions dedicated to conducting clinical trials for muscular dystrophy.

Patient support groups recommend that patients visit hospitals affiliated with the CCNMD.

For more information about the Council for the Promotion of Advanced Medical Care for Neuromuscular Diseases (CCNMD), please visit here.