Brussels, 12 August 2002
Italian scientists in collaboration with US scientists have discovered the genetic cause of one of the most common types of muscular dystrophy. Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of the crippling disease and affects the upper body.
FSHD is primarily an inherited disease of skeletal muscle and is a type of muscular dystrophy. It has an estimated frequency of one per 20,000 people. Symptoms of FSHD are the progressive weakening of skeletal muscles and muscle groups of the face (facio), scapula (scapulo) and upper arms (humeral).
The researchers from the Universita' degli Studi di Pavia in Italy and the University of Massachusetts, made the breakthrough and found that FSHD occurs when a missing piece of DNA allows nearby genes to become overactive.
Daniel Perez, president of the US Facioscapulohumeral Muscular Dystrophy Society which funded the research, said: 'Speaking as a patient, this discovery is very exciting and it gives hope for a cure.
'The findings are the first major breakthrough for understanding the mechanism causing FSHD. With this major step, we now have a starting point for developing therapeutic tools.'
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