What is FSH dystrophy?

What is FSH dystrophy?

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.

Can FSHD affect the heart?

Heart: Individuals with FSHD have a higher incidence of cardiac arrhythmias due problems with the atria (upper chamber of the heart). This can result in episodes of rapid heart beat or palpitations. These types of arrhythmias are not life threatening and require treatment in less than 5% of individuals with FSHD.

Is FSH muscular dystrophy fatal?

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 the first symptom of facioscapulohumeral muscular dystrophy?

Weakness involving the facial muscles or shoulders is usually the first symptom of this condition. Facial muscle weakness often makes it difficult to drink from a straw, whistle, or turn up the corners of the mouth when smiling.

Is FSHD curable?

There is no available cure for FSHD. Patients are currently managed for their symptoms at best. While the genetic mechanisms leading to FSHD are diverse and complex, these all result in aberrant expression of the double homeobox protein 4 (DUX4) gene in skeletal muscle.

How is FSHD inherited?

FSHD1 is inherited in an autosomal dominant pattern, meaning it takes only one mutation (from one parent) to cause the disorder. This altered piece of DNA also can occur spontaneously in a child as he or she develops in the womb, which accounts for 10% to 30% of FSHD1 cases.

What happens to the heart with muscular dystrophy?

Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy. This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently.

Why does muscular dystrophy affect the heart?

Emery-Dreifuss muscular dystrophy As the disease progresses, normal heart tissue gradually becomes more fatty and fibrotic, particularly in the atria (the parts of the heart that fill with blood before it pumps). This can cause problems in the heart’s electrical circuitry, resulting in arrhythmias.

Can FSHD be reversed?

There is no treatment that can halt or reverse the effects of FSHD, but there are treatments and devices to help alleviate many of the symptoms. Anti-inflammatory drugs known as nonsteroidal anti-inflammatories, or NSAIDs, are often prescribed to improve comfort and mobility.

What is the prognosis for patients diagnosed with facioscapulohumeral muscular dystrophy?

In most people with FSHD, the disease progresses very slowly. It can take as long as 30 years for the disease to become seriously disabling, and that does not happen to everyone. Estimates are that about 20% of people with FSHD eventually use a wheelchair at least some of the time.

What is the pathophysiology of FSHD?

FSHD is one of the most prevalent muscular dystrophies. Patients experience progressive weakness commonly first affecting the face and shoulder muscles, followed by muscles of the trunk and lower extremity.

What is the difference between muscular dystrophy and FSHD?

The term muscular dystrophy means progressive muscle degeneration, with increasing weakness and atrophy (loss of bulk) of muscles. In FSHD, weakness first and most seriously affects the face, shoulders and upper arms, but the disease usually also causes weakness in other muscles.

What is FSHD and how common is it?

FSHD is the third most common type of muscular dystrophy, behind Duchenne and Becker muscular dystrophies and myotonic dystrophy. The estimated prevalence of FSHD about 4 cases per 100,000 individuals. 1,2,3,4,5 What are the symptoms of FSHD?

Does FSHD shorten the life span?

Although FSHD does not typically shorten the life span, it can result in significant morbidity and loss of the ability to earn a living, and approximately 20% of people older than 50 years of age will require a wheelchair.