Facioscapulohumeral muscular dystrophy (FSHD) is a disorder in the muscle which is hereditary, and is defined by the weakness of the muscles on the face, scapula stabilizers, and the foot’s dorsiflexors (Lemars et al.). Muscular dystrophy refers to the degeneration of the muscle which advances over time and can be observed through the atrophy of muscles and an observed growing weakeness of the muscles (MDA). Early signs of the disorder exhibit the weakening and atrophy of the muscles in the eyes and the mouth area, in the shoulders, muscles in the upper arms, as well as the lower legs (MDA). However, specialists state that the most affected part of the body is in the xmuscles on the face, shoulder blades, and upper arms. The condition normally presents before a person turns 20 years old, with the weakness slowly progresses with roughly 20% of those affected eventually requiring a wheelchair (Lemars et al.). Some experts have divided FSHD according to the age of the sufferers: the adult-onset FSHD, and infantile-onset FSHD. Betwen the two, the adult-onset appears to be more common. However, life expectancy remains unaffected as it is not shortened by any other way.
the cause of the disorder may be due to the abnormal development of the DUX4 gene which contains double homeobox. (Lemers et al.). This condition can be inherited from either parents, but sometimes it also occurs even without a family history. In most situations, it is linked with a flaw in the genes or mutation which develops to a shorter than what is consider normal segment of the DNA on chromosome 4 (MDA). Although this said segment is not a part of any specific gene, it appears to interfere when the genetic material is processed accordingly. Luckily, it doesn’t seem to affect the heart or the respiratory system often.
People found to be suffering from FSHD are advised to see a physical therapist. It would also be good for the patient to engage in less strenuous aerobic exercise which would help the muscles be more active. If the patient is suffering from chronic pain, it is best to consult a physical therapist for the management of the pain and medication. Those who are suffering from hypoventilation are required to be in ventilator support (Lemars et al.). and is required by the therapist to undergo treatment for ‘sensorineural hearing loss’ (MDA). In some situations, patients are advised to use lubricants in order to prevent the sclera, or the white portion of the eye, from drying. Other times, the patient is advised to tape the eyes shut when sleeping in order to treat the exposure to keratitis. As it is a problem that concerns the muscles, patients are treated using ankle or foot orthoses in order to improve the patient’s mobility and in the process, prevent falls. Several patients have undergone surgeries to have the scapula fixed to the chest wall as this allows the arm to move at a wider range (MDA).
Patients suffering from this disorder are advised to visit their physician or physical therapist to assess their pain. It is also important to have moderate to severe sufferers to have their hypoventilation monitored regularly and comply to an annual mandatory vital check among those with moderate to severe disease. Among children with FSHD, they are required to attend regular checkups of their quality of hearing and annual dilated opthalmoscopy.
Reseaches regarding the said disorder produced several findings. In 2009, for instance, a research by the MDA discovered that several pieces of DUX4 which seems to be activated in the cells affected by the FSHD (MDA). This was observed to have led to the production of proteins which may be toxic. Specialists think that blocking these genes which were activated inaccurately or the proteins made from the said genes seems to be the best way towards treating the disorder.
Works Cited
“Facioscapulohumeral muscular dystrophy (FSH, FSHD).” MDA. Web. 2 May 2016.
Lemmers, Richard JLF, Miller, Daniel G., van der Maal, Silvere M. “Facioscapulohumeral
muscular dystrophy.” NCBI. Web. 2 May 2016.
