And now, I'm joined by three pioneers in this field.
Glossary Introduction The first historical account of muscular dystrophy appeared inwhen Sir Charles Bell wrote an essay about an illness that caused progressive weakness in boys.
Six years later, another scientist reported on two brothers who developed generalized weakness, muscle damage, and replacement of damaged muscle tissue with fat and connective tissue. At that time the symptoms were thought to be signs of tuberculosis. In the s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals.
In the following decade, French neurologist Guillaume Duchenne gave a comprehensive account of 13 boys with the most common and severe form of the disease which now carries his name—Duchenne muscular dystrophy.
It soon became evident that the disease had more than one form, and that these diseases affected people of either sex and of all ages. What is muscular dystrophy?
Muscular dystrophy MD refers to a group of more than 30 genetic diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement.
All forms of MD grow worse as muscles progressively degenerate and weaken. Many individuals eventually lose the ability to walk.
Some types of MD also affect the heart, gastrointestinal system, endocrine glands, spine, eyes, brain, and other organs. Respiratory and cardiac diseases may occur, and some people may develop a swallowing disorder.
MD is not contagious and cannot be brought on by injury or activity. All of the muscular dystrophies are inherited and involve a mutation in one of the thousands of genes that program proteins critical to muscle integrity. The body's cells don't work properly when a protein is altered or produced in insufficient quantity or sometimes missing completely.
Many cases of MD occur from spontaneous mutations that are not found in the genes of either parent, and this defect can be passed to the next generation. Genes are like blueprints: Each half of a chromosome pair is similar to the other, except for one pair, which determines the sex of the individual.
Muscular dystrophies can be inherited in three ways: Autosomal means the genetic mutation can occur on any of the 22 non-sex chromosomes in each of the body's cells. Dominant means only one parent needs to pass along the abnormal gene in order to produce the disorder.
In families where one parent carries a defective gene, each child has a 50 percent chance of inheriting the gene and therefore the disorder. Males and females are equally at risk and the severity of the disorder can differ from person to person. The parents each have one defective gene but are not affected by the disorder.
Children of either sex can be affected by this pattern of inheritance.Full Length Research Paper Sequencing of 16S rRNA gene for identification of Staphylococcus species in water sample (PCR) amplification 16S rDNA gene PCR reaction was performed in a .
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Market reaction to news of the ruling, which had been expected to go the Broad's way, was relatively muted.
Editas Medicine stock traded higher by nearly 3% — reflecting the biotech's ties to the Broad — while shares in CRISPR Therapeutics and Intellia, both of which are aligned with UC, dipped slightly.