DISTROFIA FACIOESCAPULOUMERAL PDF

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which the muscles of the face, shoulder blades and upper arms are among the. Facioscapulohumeral muscular dystrophy (FSHD) is associated with the progressive weakening of the muscles starting in the face, shoulders, and upper arms. Facioscapulohumeral dystrophy (FSHD) is one of the most common types of muscular dystrophy. It has distinct regional involvement and.

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Facioscapulohumeral muscular dystrophy is a favioescapuloumeral weakness and loss of muscle tissue that gets worse over time. Facioscapulohumeral muscular dystrophy affects the upper body. It is not the same as Duchenne muscular dystrophy and Becker muscular dystrophywhich affect the lower body. Facioscapulohumeral muscular dystrophy is a genetic disorder due to a chromosome mutation.

It appears in both men and women. It may develop in a child if either parent carries the gene for the disorder. Facioscapulohumeral muscular dystrophy is one of the most common forms of muscle dystrophy affecting 1 in 15, to 1 in 20, adults in the United States.

It affects men and women equally. Facioscapulohumeral muscular dystrophy facioesapuloumeral affects the face, shoulder, and upper arm muscles.

However, it can also affect muscles around facioescapuloumerla pelvis, hips, and lower leg. Symptoms can appear after birth infantile formbut often they do not appear until age 10 to However, it is not uncommon for symptoms to appear much later in life.

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In some cases, symptoms never develop.

Symptoms are most often mild and very slowly become worse. Muscle weakness of the face facioescauploumeral common, and may include:. Shoulder muscle weakness causes deformities such as pronounced shoulder blades scapular winging and sloping shoulders.

The person has difficulty raising the arms because of shoulder and arm muscle weakness. Weakness of the lower legs is possible as the disorder gets worse.

This interferes with ability to play sports because of decreased strength and poor balance. The weakness can be severe enough to interfere with walking.

Facioscapulohumeral Muscular Dystrophy – GeneReviews┬« – NCBI Bookshelf

A small percentage of people use a wheelchair. A physical exam will show weakness of the face and shoulder muscles as well as scapular winging. Weakness of the back muscles can cause scoliosis, while weakness of the abdominal muscles can be the cause of a sagging belly. High blood pressure may be noted, but is usually mild. An eye exam may show changes in the blood vessels in the back of the eye. There is no known cure for facioscapulohumeral muscular dystrophy.

Treatments are given to control symptoms and improve quality of life. Inactivity such as bedrest can make the muscle disease worse. Genetic counseling is recommended for couples with a family history of this condition who wish to have children. Proximal, distal, and generalized weakness. Bradley’s Neurology in Clinical Practice. Nelson Textbook of Pediatrics. Review provided by VeriMed Healthcare Network. Men often have more symptoms than women. Muscle weakness of the face is common, and may include: Hearing loss and abnormal heart rhythms may occur, but are rare.

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Tests that may be done include: Physical therapy may help maintain muscle strength. Other possible treatments include: Occupational therapy to help improve activities of daily living.

Oral albuterol to increase muscle mass but not strength. Surgery to fix a winged scapula. Walking aids and foot support devices if there is ankle weakness. BiPAP to help breathing. Oxygen alone should be avoided in patients with a high CO2 hypercarbia. Counseling services psychiatrist, psychologist, social worker. Disability is often minor. Lifespan is most often not affected. Decreased mobility Decreased ability to care for self Deformities of the face and shoulders Hearing loss Vision loss rare Respiratory insufficiency Be sure to talk to your health care provider before having general anesthesia.

When to Contact a Medical Professional.

Facioscapulohumeral muscular dystrophy

Call your provider if symptoms of this condition develop. Muscular Dystrophy Read more. Health Topics A-Z Read more.