What is fshd

Mild, low-intensity exercises. Nonsteroidal anti-inflammatory medicines. These may ease muscle inflammation and pain. Scapular fixation. But surgery is not always successful. Support devices. These include corsets, back supports, bras, lower-leg braces, and high-top shoes.

Emotional support for the child and the family. A diagnosis of FSHD can be emotionally and financially devastating. Counseling and community resource support can be critical to family stability. Active involvement with the school community. These protections apply to children in the public school system.

What are possible complications of FSHD in a child? As FSHD gets worse, you may notice some of these other symptoms in your child: Difficulty lifting the feet foot drop. This may cause your child to drag their feet or lift their knees to walk with high steps. Swayback lordosis in the lower back. This is because of weakened abdominal muscles. Hip weakness. This means that an affected parent has a 50 percent chance of passing the genetic defect on to each child. Even though the genetic causes are distinct, both types appear to have the same end result at the molecular level: they cause the D4Z4 region to have less-than-normal levels of methylation, which allows the DUX4 gene to get expressed.

There is no generally accepted estimate of its incidence, but it is rare. What is FSHD? Who is affected? Learn more about FSHD. Your Role in Research. Genetic Cause. Early-onset FSHD. Newly Diagnosed. Weakness in muscles of the shoulders and upper arms can make it difficult to raise the arms over the head or throw a ball.

The muscle weakness associated with facioscapulohumeral muscular dystrophy worsens slowly over decades and may spread to other parts of the body. Weakness in muscles of the lower legs can lead to a condition called foot drop, which affects walking and increases the risk of falls.

Muscular weakness in the hips and pelvis can make it difficult to climb stairs or walk long distances. Additionally, affected individuals may have an exaggerated curvature of the lower back lordosis due to weak abdominal muscles.

About 20 percent of affected individuals eventually require the use of a wheelchair. Additional signs and symptoms of facioscapulohumeral muscular dystrophy can include mild high-tone hearing loss and abnormalities involving the light-sensitive tissue at the back of the eye the retina. These signs are often not noticeable and may be discovered only during medical testing. Rarely, facioscapulohumeral muscular dystrophy affects the heart cardiac muscle or muscles needed for breathing.

The two types have the same signs and symptoms and are distinguished by their genetic cause. Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in 20, people. Facioscapulohumeral muscular dystrophy is caused by genetic changes involving the long q arm of chromosome 4.

Both types of the disease result from changes in a region of DNA near the end of the chromosome known as D4Z4. This region consists of 11 to more than repeated segments, each of which is about 3, DNA base pairs 3.

The entire D4Z4 region is normally hypermethylated, which means that it has a large number of methyl groups consisting of one carbon atom and three hydrogen atoms attached to the DNA. The addition of methyl groups turns off silences genes, so hypermethylated regions of DNA tend to have fewer genes that are turned on active. Facioscapulohumeral muscular dystrophy results when the D4Z4 region is hypomethylated, with a shortage of attached methyl groups. There is currently no cure for FSHD. However, treatments that can help manage symptoms are available.

Anti-inflammatory drugs are often prescribed to reduce pain and to help patients increase mobility. Regular physical activity and physical therapy are recommended to counteract the effects of muscle weakness and to maintain flexibility. Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment.