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http://ghr.nlm.nih.gov/condition/facioscapulohumeral-muscular-dystrophy
http://www.mda.org.au/Disorders/Dystrophies/FSH.asp
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Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in 20,000 people. About 95 percent of all cases are FSHD1; the remaining 5 percent are FSHD2.
FSHD2:
FSHD1:
Linked to deletions of D4Z4 units on chromosome 4.
Linked to mutations on a gene called SMCHD1, on chromosome 18.
Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting. This condition gets its name from the muscles that are affected most often: those of the face, around the shoulder blades , and in the upper arms.
The giving of advice to prospective parents concerning the chances of genetic disorders in a future child.
The muscles of the lower leg weaken, an excessive curve in the lower back, muscle shortenings, damage to the retina of the eye, intellectual and cognitive difficulties, deafness, facial immobility, and inflammation of the muscles
People with FSHD most of the time do not want to take the risk of giving the disease to a newborn child.