What is the average age at diagnosis of Coats disease?
It is estimated that about 69% of those affected are male. The average age at diagnosis is 8-16 years, although the disease has been diagnosed in patients as young as 4 months. About two-thirds of juvenile cases present before age 10. Approximately one-third of patients are 30 years or older before symptoms begin.
What is the first symptom of facioscapulohumeral muscular dystrophy?
FSHD may initially involve weakness of muscles of the face, shoulder girdle and arms. Facial weakness may result in limited movements of the lips, causing difficulties whistling, using a straw, or puckering the lips. Affected individuals may also develop a distinctive “mask-like” facial appearance.
Can Coats disease be reversed?
There’s no cure for Coats disease, but early treatment can improve your chances of retaining your eyesight. Most people respond well to treatment. But about 25 percent of people experience continued progression that leads to removal of the eye.
What causes Coats disease?
Coats’ disease is caused by a problem with the arteries and veins (blood vessels) inside the eye that provide blood and oxygen to the retina. These abnormal blood vessels are usually located in the temporal retina. In Coats’ disease, the blood vessels are dilated, abnormally twisted and leaky.
What is similar to Coats disease?
Lebers miliary aneurysm is considered to be a milder variant of the Coats disease, which usually does not have massive subretinal exudation, hemorrhage or exudative retinal detachment. Type 1 idiopathic macular telegiectasia is now considered the same disease as Coats disease.
Are you born with Coats disease?
Over time, Coats disease may also lead to retinal detachment, glaucoma , and clouding of the lens of the eye ( cataracts ). In most cases, only one eye is affected. Coats disease is not inherited and the underlying cause is not known.
Is FSHD serious?
Although cardiac involvement can sometimes be a factor in FSHD, it is rarely severe and is often discovered only with specialized testing. Some experts have recently recommended monitoring of cardiac function in those with FSHD.
Is FSHD fatal?
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive wasting disease that affects the face, arms and shoulders. It is most commonly diagnosed in teenage or early adults, and though it is rarely fatal is it very debilitating. FSHD is inherited from the child’s parents and affects one in 8000 children.
Is coat disease hereditary?
Coats disease is not inherited and the underlying cause is not known. It has been theorized that some cases may be due to somatic mutations (acquired, not inherited) in the NDP gene .
What is the best disease?
Best disease is a type of macular dystrophy and is also called “Best vitelliform macular dystrophy”. Macular dystrophies are inherited eye conditions meaning they are caused by a fault in a gene. Best disease can affect both men and women.
Is coat disease genetic?
Does FSHD affect the brain?
However, until now, it was not clear whether molecular abnormalities similar to those in muscle tissue of individuals with mytonic dystrophy also occur in the brain, resulting in the cognitive neurological problems.
What are the signs and symptoms of FSHD?
These can (but don’t always) include: 1 Inability to whistle; 2 Inability to sip through a straw; 3 Eyes that don’t close fully during sleep; 4 Difficulty with sit-ups and pull-ups; 5 Shoulder blades that “wing” out; 6 Difficulty raising arm above shoulder height; 7 Weakness in hands and fingers; More
Can a person with FSHD have respiratory insufficiency?
Respiratory involvement in FSHD is not typical but can be seen, especially in patients with severe FSHD. Symptoms and signs of respiratory insufficiency should be sought during routine clinic visits in patients with severe FSHD, and regular monitoring of respiratory function instituted.
What do you need to know about Coats disease?
Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most people begin showing symptoms in childhood. Early signs and symptoms vary but may include vision loss, “crossed eyes” (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria).
How old do you have to be to have FSHD?
Around 5% develop symptoms before age 10, while there are also seniors whose symptoms are so mild that they don’t realize they have FSHD. A common first sign of FSHD, asymptomatic scapular fixator causing scapular winging and difficulty reaching above the shoulder level. Note asymmetry.
