Essay On Muscular Dystrophy
Definition - Muscular dystrophy is a genetic mutation where the muscle fibres become susceptible to damages causing the muscle to progressively get weaker. Eventually muscular dystrophy will cause the inheritance of this disease to need a wheelchair. Muscular dystrophy is most commonly found in boy and in their early childhood years, other types of muscular dystrophy don’t surface until adulthood.
Duchenne muscular dystrophy symptoms include; Frequent falls, difficulty getting up from a lying or sitting position, trouble running and jumping, waddling gait, large calf muscles and learning disabilities
Symptoms - The two most common muscle dystrophies are Duchenne and Becker Muscular Dystrophy. Other more rarer muscular dystrophies include …show more content…
Myotonic, Limb-girdle, Congenital, Fascioscapulohumeral (FSHD) and Oculopharyngeal. (RIGHT BEFORE BECKER MUSCULAR DYSTROPHY)
Becker muscular dystrophy has a variety of signs and symptoms similar to Duchenne muscular dystrophy, but they typically are milder and progress more slowly.
Symptom onset is generally in the teens but may not occur until the mid-20s or even later.
DUCHENE DYSTROPHY: LOOK UP
Myotonic. Also known as Steinert's disease, this form of muscular dystrophy also features an inability to relax muscles at will. It most often begins in early adulthood. Muscles of the face are usually the first to be affected.
Limb-girdle. The hip and shoulder muscles are usually the first affected in this type of muscular dystrophy. In some cases, it becomes difficult to lift the front part of the foot, so frequent tripping may occur. Signs and symptoms may begin from early childhood to adulthood.
Congenital. This category of muscular dystrophy is apparent at birth or becomes evident before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.
Fascioscapulohumeral (FSHD). One of the most striking signs of this variety of muscular dystrophy is that the shoulder blades might stick out like wings when the person raises his or her arms. Onset usually occurs in teens or young
adults.
Oculopharyngeal. The first sign of this type of muscular dystrophy is usually drooping of the eyelids. Weakness of the muscles of the eye, face and throat often results in swallowing difficulties. Signs and symptoms first appear in adulthood, usually in a person's 40s or 50s.
Cause - Hundreds of genes are involved in making proteins that protect muscle fibres from damage, when one of theses genes are defective, muscular dystrophy occurs. Muscular dystrophy is caused by an inherited genetic mutation that is particular to that type of disease.
Risk Factors - Muscular dystrophy is disease that occurs in all genders, ethnicities and ages. There are no prevention for this disease or cures so if your family has a history of muscular dystrophy there is a high risk of contracting this disease.
Diagnosis - There is no diagnosis process for muscular dystrophy, however, current treatment is designed to help prevent or reduce deformities in the joints and the spine and to allow people with muscular dystrophy to remain mobile as long as possible.
● Enzyme tests. Damaged muscles release enzymes, such as creatine kinase (CK), into your blood. In the absence of traumatic injuries, high blood levels of CK suggest a muscle disease — such as muscular dystrophy.
● Electromyography. This test involves inserting an electrode needle through your skin and into the muscle to be tested. Electrical activity is measured as you relax and as you gently tighten the muscle. Changes in the pattern of electrical activity can confirm a muscle disease.
● Muscle biopsy. A small piece of muscle can be removed through a small incision or with a hollow needle. The analysis of the sample can distinguish muscular dystrophies from other muscle diseases.
● Genetic testing. Blood samples can be examined for mutations in some of the genes that cause different types of muscular dystrophy.
Medication - Corticosteroids, such as prednisone, may help improve muscle strength and delay the progression of certain types of muscular dystrophy. But prolonged use of these types of drugs can weaken bones and increase fracture risk.
Therapy
❖ Range-of-motion exercises. Muscular dystrophy can restrict the flexibility and mobility of joints. Limbs often draw inward and become fixed in that position. One goal of physical therapy is to provide regular range-of-motion exercises to keep joints as flexible as possible.
❖ Mobility aids. Braces can provide support for weakened muscles and help keep muscles and tendons stretched and flexible, slowing the progression of contractures. Other devices — such as canes, walkers and wheelchairs — can helfp maintain mobility and independence.
❖ Breathing assistance. As respiratory muscles weaken, a sleep apnea device may help improve oxygen delivery during the night. Some people with severe muscular dystrophy may need to rely on a ventilator — a machine that forces air in and out of their lungs.
❖ Surgical and other procedures
Contractures a tendon surgery that can loosen joints drawn inward by contractures. Scoliosis a surgery that corrects the sideways curvature of the spine that can make breathing more difficult and heart surgeries. Some people who have heart problems related to muscular dystrophy may be helped by the insertion of a pacemaker, which prompts the heart to beat more regularly.
X-linked recessive inheritance pattern with carrier mother
In an X-linked inheritance pattern, the mutated gene is on the X chromosome. Duchenne muscular dystrophy, color blindness and hemophilia A are examples of X-linked recessive disorders.
For a person to have a recessive disorder, it usually requires two copies of the mutated gene. However, males are affected by a single X-linked recessive gene because they don't have a second X chromosome to override the recessive trait.
A woman who is a carrier of an X-linked recessive disorder has a 25 percent chance of each of the following scenarios: Having an unaffected son, having an affected son, having an unaffected daughter and having an unaffected daughter who also is a carrier.
X-linked recessive inheritance pattern with affected father
A man with an X-linked recessive disorder will pass his unaffected Y chromosome to his sons, and none will be affected. He will pass his X chromosome (with the gene mutation) to his daughters, and all will be carriers of the disease. Their health is rarely affected, but these daughters may pass the mutated gene down to their children.
How many people have MD?
MD occurs worldwide, affecting all races. Its incidence varies, as some forms are more common than others. Its most common form in children, Duchenne muscular dystrophy, affects approximately 1 in every 3,500 to 6,000 male births each year in the United States.** Some types of MD are more prevalent in certain countries and regions of the world. Many muscular dystrophies are familial, meaning there is some family history of the disease. Duchenne cases often have no prior family history. This is likely due to the large size of the dystrophin gene that is implicated in the disorder, making it a target for spontaneous mutations.
Duchenne muscular dystrophy symptoms include; Frequent falls, difficulty getting up from a lying or sitting position, trouble running and jumping, waddling gait, large calf muscles and learning disabilities
Symptoms - The two most common muscle dystrophies are Duchenne and Becker Muscular Dystrophy. Other more rarer muscular dystrophies include …show more content…
Myotonic, Limb-girdle, Congenital, Fascioscapulohumeral (FSHD) and Oculopharyngeal. (RIGHT BEFORE BECKER MUSCULAR DYSTROPHY)
Becker muscular dystrophy has a variety of signs and symptoms similar to Duchenne muscular dystrophy, but they typically are milder and progress more slowly.
Symptom onset is generally in the teens but may not occur until the mid-20s or even later.
DUCHENE DYSTROPHY: LOOK UP
Myotonic. Also known as Steinert's disease, this form of muscular dystrophy also features an inability to relax muscles at will. It most often begins in early adulthood. Muscles of the face are usually the first to be affected.
Limb-girdle. The hip and shoulder muscles are usually the first affected in this type of muscular dystrophy. In some cases, it becomes difficult to lift the front part of the foot, so frequent tripping may occur. Signs and symptoms may begin from early childhood to adulthood.
Congenital. This category of muscular dystrophy is apparent at birth or becomes evident before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.
Fascioscapulohumeral (FSHD). One of the most striking signs of this variety of muscular dystrophy is that the shoulder blades might stick out like wings when the person raises his or her arms. Onset usually occurs in teens or young
adults.
Oculopharyngeal. The first sign of this type of muscular dystrophy is usually drooping of the eyelids. Weakness of the muscles of the eye, face and throat often results in swallowing difficulties. Signs and symptoms first appear in adulthood, usually in a person's 40s or 50s.
Cause - Hundreds of genes are involved in making proteins that protect muscle fibres from damage, when one of theses genes are defective, muscular dystrophy occurs. Muscular dystrophy is caused by an inherited genetic mutation that is particular to that type of disease.
Risk Factors - Muscular dystrophy is disease that occurs in all genders, ethnicities and ages. There are no prevention for this disease or cures so if your family has a history of muscular dystrophy there is a high risk of contracting this disease.
Diagnosis - There is no diagnosis process for muscular dystrophy, however, current treatment is designed to help prevent or reduce deformities in the joints and the spine and to allow people with muscular dystrophy to remain mobile as long as possible.
● Enzyme tests. Damaged muscles release enzymes, such as creatine kinase (CK), into your blood. In the absence of traumatic injuries, high blood levels of CK suggest a muscle disease — such as muscular dystrophy.
● Electromyography. This test involves inserting an electrode needle through your skin and into the muscle to be tested. Electrical activity is measured as you relax and as you gently tighten the muscle. Changes in the pattern of electrical activity can confirm a muscle disease.
● Muscle biopsy. A small piece of muscle can be removed through a small incision or with a hollow needle. The analysis of the sample can distinguish muscular dystrophies from other muscle diseases.
● Genetic testing. Blood samples can be examined for mutations in some of the genes that cause different types of muscular dystrophy.
Medication - Corticosteroids, such as prednisone, may help improve muscle strength and delay the progression of certain types of muscular dystrophy. But prolonged use of these types of drugs can weaken bones and increase fracture risk.
Therapy
❖ Range-of-motion exercises. Muscular dystrophy can restrict the flexibility and mobility of joints. Limbs often draw inward and become fixed in that position. One goal of physical therapy is to provide regular range-of-motion exercises to keep joints as flexible as possible.
❖ Mobility aids. Braces can provide support for weakened muscles and help keep muscles and tendons stretched and flexible, slowing the progression of contractures. Other devices — such as canes, walkers and wheelchairs — can helfp maintain mobility and independence.
❖ Breathing assistance. As respiratory muscles weaken, a sleep apnea device may help improve oxygen delivery during the night. Some people with severe muscular dystrophy may need to rely on a ventilator — a machine that forces air in and out of their lungs.
❖ Surgical and other procedures
Contractures a tendon surgery that can loosen joints drawn inward by contractures. Scoliosis a surgery that corrects the sideways curvature of the spine that can make breathing more difficult and heart surgeries. Some people who have heart problems related to muscular dystrophy may be helped by the insertion of a pacemaker, which prompts the heart to beat more regularly.
X-linked recessive inheritance pattern with carrier mother
In an X-linked inheritance pattern, the mutated gene is on the X chromosome. Duchenne muscular dystrophy, color blindness and hemophilia A are examples of X-linked recessive disorders.
For a person to have a recessive disorder, it usually requires two copies of the mutated gene. However, males are affected by a single X-linked recessive gene because they don't have a second X chromosome to override the recessive trait.
A woman who is a carrier of an X-linked recessive disorder has a 25 percent chance of each of the following scenarios: Having an unaffected son, having an affected son, having an unaffected daughter and having an unaffected daughter who also is a carrier.
X-linked recessive inheritance pattern with affected father
A man with an X-linked recessive disorder will pass his unaffected Y chromosome to his sons, and none will be affected. He will pass his X chromosome (with the gene mutation) to his daughters, and all will be carriers of the disease. Their health is rarely affected, but these daughters may pass the mutated gene down to their children.
How many people have MD?
MD occurs worldwide, affecting all races. Its incidence varies, as some forms are more common than others. Its most common form in children, Duchenne muscular dystrophy, affects approximately 1 in every 3,500 to 6,000 male births each year in the United States.** Some types of MD are more prevalent in certain countries and regions of the world. Many muscular dystrophies are familial, meaning there is some family history of the disease. Duchenne cases often have no prior family history. This is likely due to the large size of the dystrophin gene that is implicated in the disorder, making it a target for spontaneous mutations.