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Muscular dystrophy appears in adolescence and causes progressive weakness in facial muscles and certain muscles in the arms and legs.
Facioscapulohumeral muscular dystrophy (Landouzy-Déjérine disease) is an inheritable muscle disease, commonly called FSH or FSHD. Progressive weakening and loss of skeletal muscle are its major effects. It has significant medical and health impacts on individuals, families and society.
Symptoms and signs of Facioscapulohumeral muscular dystrophy
It progresses slowly and can vary in symptoms from mild to disabling.
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is not due to a classical mutation within a protein-coding gene1, 2.
Instead, almost all FSHD patients carry deletions of an integral number of tandem 3.3-kilobase repeat units, termed D4Z4, located on chromosome 4q35 (ref. 3). D4Z4 contains a transcriptional silencer whose deletion leads to inappropriate overexpression in FSHD skeletal muscle of 4q35 genes located upstream of D4Z4.
Causes of Facioscapulohumeral muscular dystrophy
By going from the large (muscle) to the small (DNA), one can partially understand the cause and origin of FSHD. DNA, short for deoxyribonucleic acid, is a long molecule found in the cells of our body. In association with some proteins, DNA makes up what we call our chromosomes.
It holds the genetic instructions for our hereditary traits. Discrete segments of DNA, called genes, determine specific traits. Taken together, the combination of an estimated 100,000 genes makes each of us "an original."
Treatment of Facioscapulohumeral muscular dystrophy
There is no treatment or cure for FSHD. There are, however, things that can alleviate its effects. Since muscles do their work through stimulation by nerves, neurologists are concerned with muscle and are often the primary physicians of muscle disease clinics.
Physical therapy, including light exercise, helps preserve flexibility. Swimming is especially helpful in this regard by making many movements easier.
One should stay as active as possible, with rest breaks as needed during exercise and activities.
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