Congenital muscular dystrophy (CMD) is a muscle disorder that, even though has different ages of onset, develops most commonly at birth or in infancy. A dystrophy is a disorder that weakens and wastes away organs and tissue of the body. CMD can be characterized by hypotonia or “floppy baby”, progressive muscle weakness, and fixed joints that restrict movement. Most forms of CMD are inherited as autosomal recessive traits, affect different muscles and have different severity and inheritance patterns. This disorder affects both males and females equally, with 250,000 known cases in the United States alone. The number of people with CMD varies throughout the world depending on the region. CMDs are a rapidly growing disease family and information about these disorders is constantly changing (congenital...NORD).
There are many different symptoms and signs of CMD. For starters, newborns may have respiratory and feeding difficulties shortly after birth, while toddlers and young children may fail to gain weight and grow at the expected rate. People with …show more content…
The tests needed may include a biopsy or assessment of the affected muscle tissue, specialized blood testing, tests that measure the number of certain muscle proteins, or even an MRI. Blood tests may show the amount of protein in a muscle, and can tell the evaluator if the muscle is lacking a certain protein. They also can reveal enzymes that present themselves when the muscle is severely damaged, such as creatine kinase. These blood tests may confirm that a muscle is damaged, but that does not necessarily mean that the individual has CMD. The tests use certain antibodies that react to certain muscle proteins and when the tested muscle area is exposed to them, it can determine if a specific muscle protein is present and how
There are many different symptoms and signs of CMD. For starters, newborns may have respiratory and feeding difficulties shortly after birth, while toddlers and young children may fail to gain weight and grow at the expected rate. People with …show more content…
The tests needed may include a biopsy or assessment of the affected muscle tissue, specialized blood testing, tests that measure the number of certain muscle proteins, or even an MRI. Blood tests may show the amount of protein in a muscle, and can tell the evaluator if the muscle is lacking a certain protein. They also can reveal enzymes that present themselves when the muscle is severely damaged, such as creatine kinase. These blood tests may confirm that a muscle is damaged, but that does not necessarily mean that the individual has CMD. The tests use certain antibodies that react to certain muscle proteins and when the tested muscle area is exposed to them, it can determine if a specific muscle protein is present and how