What muscles are affected by FSHD?
Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disease that affects the muscles of your child’s face, shoulders, upper arms, and lower legs. These muscles weaken and shrink (atrophy). Symptoms usually appear before 20 years of age.
Is FSHD life threatening?
FSHD usually progresses very slowly and rarely affects the heart or respiratory system. Most people with the disease have a normal life span. However, disease severity is highly variable.
What is FSHD muscular dystrophy?
Facioscapulohumeral muscular dystrophy (FSHD) is a disorder characterized by muscle weakness and wasting (atrophy). The disorder gets its name from muscles that are affected in the face (facio), around the shoulder blades (scapulo), and in the upper arms (humeral).
How do you diagnose FSHD?
The diagnosis of FSHD is made by a Neurologist based on the pattern of muscle weakness that is seen on bedside examination. An EMG (electromyography) may be helpful in certain cases but it only confirms the presence of a muscular dystrophy and cannot differentiate between the different muscular dystrophies.
What does FSHD feel like?
Abdominal muscle weakness
In many people with FSHD, weakness develops in the muscles of the abdomen. These can weaken early in the disorder. As abdominal weakness progresses, a person develops a lordosis, an exaggerated curve in the lumbar (lower) region of the spine.
Can you build muscle with FSHD?
“Preliminary results of ACE-083 in FSHD patients demonstrated positive safety and tolerability along with unprecedented mean increases in total muscle volume of over 12 percent in the two distinct muscles evaluated,” Matthew Sherman, Acceleron’s chief medical officer, said in a press release.
Does FSHD affect the brain?
A brain volumetric study, for example, has shown gray matter loss in FSHD, especially in the left precentral cortex, the anterior cingulated cortex and the right frontal region.
Does FSHD affect breathing?
Main clinical findings [1]. Patients with FSHD may become respiratory insufficient if they have progressive weakness of respiratory muscles and/or a scoliosis, most likely when there are other signs of functionally severe impairment such as the need to use a wheelchair [4].
Is exercise good for FSHD?
A study reported in this issue of Neurology by Olsen et al. showed that exercise can be safe and beneficial for people with FSHD.
Are there any breakthroughs with FSHD?
Facio-therapies recently announced a breakthrough development in FSHD drug discovery. What is it? Facio-therapies have developed a high through-put screening platform that uses muscle cells from people with FSHD and actually measures DUX4 protein levels.
Does FSHD affect pelvic floor muscles?
Hyperlordosis is a common presentation of FSHD, which subsequently causes pelvic extensor and paraspinal muscle insufficiency (36,37).
Does FSHD cause pain?
The most common locations for pain include the shoulder, neck, lower back, and lower legs. Chronic pain affects 55% to 80% of patients with FSHD, with severe pain in up to 23%.
How long do people with FSHD live for?
They found that the mean age at diagnosis among the registered FSHD patients was 42 years, and with an average life expectancy of 39 years from the age of diagnosis, they concluded that the prevalence (number of individuals with FSHD) was 12 in 100,000.