Trial Showed that Resolaris Improved Muscle Strength in FSHD Patients

The drug approved a couple of years ago is finally showing its first results in the phase ½ of its trial.

FSHD stands for Facioscapulohumeral muscular dystrophy, which is a condition characterized by muscle weakness and loss of muscle tissue that gets worse over time. The condition may affect anyone, regardless of their sex or age, however, symptoms seem to be stronger in men than women. Facioscapulohumeral muscular dystrophy mainly affects the muscles of the face, shoulders and upper arms. But there are other forms of muscular dystrophy, like Duchenne and Becker, that can affect the lower part of the body.

Like other types of muscular dystrophy, this is also considered a genetic disorder, caused by a mutation in the gene. It can be seen in a child if one of their parents is a carrier of the disorder's gene. As curious as it may seem, there are some cases where none of the parents do not carry the gene and their child still develops the condition. Regarding how common the condition is, well, facioscapulohumeral muscular dystrophy affects about 5 out of every 100,000 people.

Symptoms can occur after birth, but often do not appear until the ages of 10 to 26 years old. However, it is not uncommon for them to appear much later in life. Symptoms are often mild and get worse very slowly. Facial muscle weakness is one of the most common issues and it may include:

• Fallen eyelids
• Inability to whistle
• Decreased facial expression
• Difficulty to pronounce some words

Weakness of shoulder muscles produces deformities such as pronounced shoulder blades (wing-shaped shoulder blades) and falling shoulders. The person has difficulty raising their arms, due to the weakness of shoulder and arm muscles. Weakness of the lower legs may also occur as the disorder worsens. It can be so serious that it interferes with the activity of walking, however a small percentage of people use a wheelchair.

Getting tested for FSHD

A physical examination will show weakness of the facial and shoulder muscles. Hypertension may be noted, but it is usually mild. An eye exam may show changes in the blood vessels in the back of the eye.

Tests that can be done include:

• Creatine kinase test (may be slightly elevated)
• DNA test
• Electrocardiogram (ECG)
• EMG (electromyography)
• Fluorescein angiography
• Genetic testing of chromosome 4
• Audiometries
• Muscle biopsy (can confirm the diagnosis)
• Treatment

There is no known cure for facioscapulohumeral muscular dystrophy and treatments are administered to control symptoms and improve quality of life. Activity is stimulated, since inactivity, such as resting in the bed, can worsen muscle disease. Physiotherapy can help maintain muscle strength. Other possible treatments include:

• Albuterol to increase muscle mass (but not strength)
• Logopedia
• Surgery to correct a winged scapula (pronounced scapula)
• Walking aids and foot support devices
• Expectations (prognosis)
• The disability is often less. The period of life is often not affected.

Regarding possible complications that can be linked to facioscapulohumeral muscular dystrophy are:

• Decreased mobility
• Decreased ability to take care of personal care
• Deformities of the face and shoulders
• Hearing loss
• Vision loss(rare)