Facioscapulohumeral Dystrophy (FSHD) Guideline

Facioscapulohumeral dystrophy (FSHD) is a rare, hereditary neuromuscular disorder that initially affects the muscles of the face (facies), around the shoulder blades (scapula), and in the upper arms (humeri). Over time, other muscle groups may also be affected, including the foot dorsiflexors, abdominal and pelvic muscles, and muscles of the hips and thighs. Symptoms can appear at any age, meaning children can also develop the condition. By age 50, approximately 20% of patients become wheelchair-dependent, while a very small number experience weakness in the respiratory muscles.

People with FSHD often unconsciously adapt to the slowly progressing limitations. Additionally, they may hear from caregivers or family members that no treatment options are available. As a result, some patients see little need to visit a doctor in a timely manner. However, with proper multidisciplinary care, significant improvements can be achieved both early and later in the disease.

This guideline is intended for medical and paramedical professionals involved in the care of individuals with FSHD. It addresses topics such as:

• Pain management

• Treatment of fatigue

• Improvement of mobility

• Enhancement of communication

Development and Review of the Guideline

In 2015, a multidisciplinary working group was formed to develop this guideline, including representatives from all relevant specialties and the patient association. By 2021, the Dutch Association of Rehabilitation Physicians (VRA), in collaboration with the FSHD Expertise Center and Spierziekten Nederland, will determine whether the guideline remains up to date.

The FSHD guideline is available in the guideline database of the Federation of Medical Specialists (FMS). Patient-focused information can also be found on the website of the FSHD Expertise Center.