Facio-Scapulo-Humeral Dystrophy (FSHD)
What is Facio-Scapulo-Humeral Dystrophy (FSHD)?
This is a sort of muscle disease. It can be seen in both of the genders. While it starts in adolescence period generally, it might even start in young adulthood or in the first ages more rarely. It manifests itself with a special muscle weakness and thinning out (atrophy). It has a character of being asymmetric. The symptoms exist on one side of the body or mainly on its one side.
Is Facio-Scapulo-Humeral Dystrophy (FSHD) Genetic?
It is genetic, that is to say, a hereditary disease.
What Are The Symptoms of Facio-Scapulo-Humeral Dystrophy (FSHD)?
The disease starts on facial muscles at first, generally. The person cannot understand this change for a long time, it is assumed that 'the patient looks like that, his/her type is like that'. The eyes appear huge and the lips look protruding since the muscles around the eyes and face have thinned out. This condition is actually a look that gives beauty to the face. Some patients, when they are reminded about it, find out that they sleep with their eyes partially open. A person's actual complaints start when they cannot lift an arm or arms. It becomes difficult to pick up something from a higher place and reach up. The scapula protrusion (scapula alata), which is more prominent on the side that the patient cannot lift or lifts less, is pointed out. In the disease that progresses very slowly, difficulty in walking may be added in the following years. The way of walking by throwing the waist backwards is based on the fact that the muscles, which keep the spine upright, and also abdominal muscles have become weak and thinned out. Therefore, it is important to perform exercises that strengthen the body from the beginning. Muscle stiffness in the lower legs and legs might cause difficulty in walking.
What Are Diagnosis and Treatment Methods of Facio-Scapulo-Humeral Dystrophy (FSHD)?
It should be kept in mind that the disease progresses differently for each person. Sometimes, some relatives have only a mild change on their faces, and even that person does not realize that they are sick. For this reason, our patients with FSHD are frequently asked the question 'who do you look like in your family'. The stiffness in the heart and respiratory muscles is rare. Although no known medication exists for the disease today, it is one of the diseases, on which treatment studies are carried out most intensively nowadays. Exercise is our most important weapon while waiting for a treatment.
Is Surgery Required In The Treatment of Facio-Scapulo-Humeral Dystrophy (FSHD)?
"Scapulothoracic Arthrodesis – (STA)", in which the scapula is attached to the chest wall, can be performed in our patients, who are in a suitable condition, in order to lift the arm and remove the protrusion in the shoulder blade and thereby, increasing the patient's standard of living. In terms of this surgery, our group is one of the most experienced groups in the world.