FSH Muscular Dystrophy
I have Facio Scapula Humeral (FSH) which is one of many forms of muscular dystrophy. It is a muscle wasting condition, caused by a genetic fault affecting one of the proteins of the muscles.
The name describes the usual distribution of the weakened muscles: facio = facial; scapulo = shoulder blade; humeral = upper arm. However, the legs and back can be affected as well. As with all Muscular Dystrophies, weakness is selective. If the back is affected, many with FSH will have altered postures, with an exaggeration of the normal forward curvature of the spine above the pelvis (called cordosis).
The earlier in life this weakness appears the greater its eventual severity. Signs of muscle weakness (particularly the face) are evident in a least 50% of persons who carry the gene by the age of twelve and 95% by the age of twenty. Often an affected person first becomes aware of the muscle weakness in childhood or teenage years, when he or she experiences difficulty in raising one or both arms. In some cases, symptoms may not be noticed until adulthood.
At one end of the spectrum of severity, those affected are handicapped in infancy or early childhood and are unable to walk by adolescence or early adulthood. At the other end, an affected person might never experience any handicap at all and even an experienced physician would find it difficult to be sure that he or she was affected.
In FSH there is not always passed through family genetics. A person diagnosed with FSH may have fresh gene mutation, which means it was not inherited from either parent. More often, however, a person diagnosed with FSH will have inherited the faulty gene from one of their parents. It may be that the person newly diagnosed finds that there is a family history but that this had not been recognized before because symptoms of other family members had been very mild or had been misdiagnosed.
FSH is relatively rare and its frequency may vary depending on location. It is estimated that 1 in 400,000 in North America have FSH, where as statistics show its 1 one in 50,000 in Britain.
FSH does not affect the muscles of the heart or those to do with breathing and therefore does not usually affect lifespan.