The gene Dystrophin is found on the X chromosome at the location Xp21.2 and codes for the protein duchenne (6, 7). This gene is the largest gene in our genome and corresponds to about 1% of the genome. DMD is made up of 79 exons and it is spread 2.2 million bases long (8-10). Out of the 79 exons 78 of them code for duchenne (6). The duchenne protein protects the outside sheath of a muscle fiber by offering stability, rigidity of muscles, and reinforces the sarcolemma to protect it from other muscle stresses (11).
Muscular dystrophy is when your muscles wear away and don’t really ever come back. In the same article it says that “Muscular dystrophy occurs in both genders and can strike at any age. However, Duchenne muscular dystrophy in the most common form and is most likely to occur in young boys.”(Tim Newman) Many people who have this genetic disorder usually walk on their toes and have trouble walking in general.
Therefore, they can be diagnosed by detecting abnormal movements. If the patient diagnosed with rigidity that causes a condition of stiffness, inflexibility, and resistance to the muscle motion, it means that the patient has HD. The patient is diagnosed with PD only if chorea, a symptom where the patient experience involuntary movements and rapid motion, is observed. In short, PD and HD are progressive diseases that share the same general characteristics, but if studied closely many remarkable differences can be
3, 4, 6b, 8, 10 Clinical signs include muscle weakness and atrophy, exercise intolerance and a paddling gait. Dysphagia and regurgitation are frequently seen with degeneration of the esophageal and pharyngeal muscles. Creatine kinase levels are elevated and there are bizarre discharges on EMG.
One can only get spinal muscular atrophy only if both of their parents had copies of a defective gene. Furthermore, if the
The illness discussed is called Arthrogryposis Multiplex Congenita (AMC) which is a disease of newborns resulting in decreased flexibility of the joints. Symptoms differ drastically from person to person, including stiff joints and muscle weakness. The areas that are most likely to have lack of movement are the shoulders, elbows, wrists, hands, hips, knees, and feet. The lack of movement, unlike many other diseases, does not get worse as time goes by. However, it is necessary to seek treatment to prevent further impediments of the joints.
Your probably wondering what ALS is? Well, I am here to tell you. ALS is a serious condition that affects the nervous system causing muscle weakness throughout the body and strongly effects the person 's physical function. This motor neuron disease causes nerve cells to gradually break down and die. Motor neurons are a type of cell in the nervous system that control the function of muscles.
Achilles Tendinitis Achilles (uh-kill-eez) tendinitis is a condition affecting the band of tissue that connects the calf muscles in the back of the lower part of the leg to the heel bone, which is the Achilles tendon. The band of tissue connecting the calf muscles to the heel bone may become stiff, tender, and even painful, in the Achilles tendon and surrounding parts of the foot and leg, especially in the morning or after hours of sleep. The feelings associated with the Achilles tendon can be mild to moderate and even severe if left untreated.
With this experiment, scientists were able to discover that the disease is caused by mutations in the fibrillin-1 gene. They discovered that the mutation disrupts elastic fibers, in the connective tissue, that are still under development. They were able to conclude that this is what causes the patients to have long/thin limbs. Later on, the scientists discovered that the experimental mice had a lower level of fibrillin-1 microfibrils. When examined, the fibers appeared to be normal.
' (Lance 1980). Conditions that are linked with spasticity and are often treated with muscle relaxants are spinal cord injury, multiple sclerosis, cerebral palsy, and traumatic brain injury. Patients with these conditions and suffer with spasticity will most likely suffer with disabilities and pain, which may affect their functional ability and quality of life. As talked about before muscle relaxants are used to treat and reduce muscle spasms and spasticity.
Fibromyalgia is a disease causing musculoskeletal pain and other complications. This is a disease not widely talked about, but that affects many people’s daily lives. When faced with fibromyalgia small things that used to seem almost like second nature become tasks that seem nearly impossible. As this disorder begins to grow, thanks to now knowing more about it, it is important to be informed. To understand this disorder taking a closer look at the symptoms, the process of making the diagnosis, causes, and treatment options is crucial.
For this condition, an occupational therapist and physical therapist could help! An occupational therapist could help by helping the patient cope with the pain and what to do differently with everyday lifestyles. A physical therapist would help with the patient on improving muscle
Fibromyalgia According to mayoclinic.org, “Fibromyalgia is a disorder characterized by widespread musculoskeletal pain accompanied by fatigue, sleep, memory, and mood issues.” (Staff, 2015). This is a disease not widely talked about, but that affects many people’s daily lives. When faced with fibromyalgia small things that used to seem almost like second nature become tasks that seem nearly impossible.
It's when the bones become weak and deformed". According to (medicalnewstoday.com) It is often when you lack vitamin D. Vitamin D is very important and good for you. It helps balance both the calcium and phosphorous levels in your body. "Your body regulates the amount of vitamin D produced by sun exposure. It most often occurs because of a problem with vitamin D, which helps your body absorb calcium."
Cancer and its treatment can weaken the vertebrae and cause compression fractures. Disk degeneration. This refers to the soft, circular disks between the vertebrae drying out and shrinking as part of the natural aging process. What are the signs or symptoms?