Musculoskeletal Diseases Musculoskeletal diseases can cause both major or minor physical disabilities that can be critical. Some musculoskeletal diseases don 't have a cure but there are many treatment options. Two examples of Musculoskeletal diseases are Fibrous Dysplasia of Bone and Duchenne Muscular Dystrophy. Fibrous Dysplasia is a genetic disease that is characterized by bone pain deformities and fractures that involve one or more bones. Fibrous Dysplasia is associated with osteoblastic defects along with increased bone resorption. It is caused from a postzygotic missense mutation in gene coding for one of the subunits. Some symptoms of fibrous dysplasia include: Uneven growth of bones, pain, brittle bones, and bone deformity. A few …show more content…
A couple of those treatment options are painkillers and, or bisphosphonates. Bisphosphonates are usually only used when pain killers or relievers are not effective. Duchenne Muscular Dystrophy is a severe form of muscular dystrophy that is caused by a mutation in a gene in the X chromosome which prevents dystrophin from producing. Duchenne muscular dystrophy is more than often effective in males rather than females and tends to occur between the ages of 2-20. Duchenne muscular dystrophy occurs in approximately 1 every 3,600 males. Some symptoms of duchenne muscular dystrophy include: Muscle weakness that begins in the hips, pelvis, and legs, difficulty standing, trouble learning to sit independently and walk, clumsiness, unsteady walking often on the toes or the balls of the feet, frequent falling. Some of the tests ran to determine of you have this disease or not are: a completely neurological exam, an electromyography, genetic tests, or a muscle biopsy. There is no cure for duchenne muscular dystrophy, however; there is treatment that can be applied along with physical therapy. Some of the treatment options include: steroid drugs to slow down the process, albuterol, amino acids, carnitine,coenzyme Q10, or
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).
Each year duchenne muscular dystrophy affects around 1 in 3500 male births worldwide(1). Duchenne affects patient's whole life since it attacks skeletal system, respiratory system, and in progress stages it may attack the heart(2).The phases of duchenne muscular dystrophy help scientists understand the disease because each phase has its own symptoms. Moreover, each phase attacks specific systems and organs in the patient's body. Duchenne muscular dystrophy develops relentlessly over time, and can be divided into three phases, early phase , transitional phase, and teenager and adult phase(1). The Early phase of duchenne muscular dystrophy begins from the day is diagnosed until the patient is 6 years old(1).Duchenne can by diagnosed through a muscle biopsy, taking a sample
Amyotrophic lateral sclerosis is a degenerative neuromuscular disorder that affects the motor neurons of the spinal cord and brain. Due to degeneration or destruction of the motor neurons, muscles throughout the body begin to become weak and waste away to the point that an individual has no muscle movement. In most cases, due to having muscle strength, a patient with ALS will succumb to their disease because of respiratory failure or dehydration and malnutrition. It is a progressive disease with a prognosis of 3 to 5 years after initial diagnosis. There is no cure for the disease as of now.
Duchenne Muscular Dystrophy is a disorder that is both mentally and physically challenging. Duchenne Syndrome is caused by the mutation of a gene on the X-chromosome. A muscle protein, dystrophin, is affected by this mutation. The damaged gene cannot make enough dystrophin to work right, so it will result in DMD. Dystrophin is a protein that is associated with muscles in the heart, bones, and some in the nerve
Fibrodysplasia ossificans progressiva is one of the rarest and most disabling disease known to mankind. The disease progression is caused when connective tissue such as; muscle, tendons, or ligaments are slowly replaced by bone. Eventually, the additional bone formation outside the skeleton will constrict movement and imprison the body. The literature on fibrodysplasia ossificans progressiva is sparse, which could account for the extremely high rate of misdiagnoses of the disorder.
If you have Paget disease, the process speeds up instead. As a result, your bones become weaker and larger. The new bone tissue may have more blood vessels. These changes can cause the bone to have an abnormal shape (deformity). These bones may bend or break more easily than healthy bones.
Osteogenesis Imperfecta is a disorder of the bones which causes the bones to be very weak and fragile. The bones are weak due to poor quality or absence of collagen produced by the body. Usually this disease is inherited by the parents due to a genetic mutation. Osteogenesis imperfecta is usually present at birth.
This disease also breaks down brain cells, which are imperative for everyday functioning and intelligence. Symptoms of this disease include, developmental mental delay, seizures, stiff limbs, Optic atrophy: wasting of a muscle of the eye, resulting in vision difficulties, deafness, irritability, spasms, and ataxia which is the
The trapezius is a large muscle in the upper back that helps to control the shoulder blade (scapula) and stabilize the spine. Trapezius palsy happens when a nerve (spinal accessory nerve) that connects the spinal cord to the trapezius muscle becomes damaged. This causes pain and weakness in the back of the shoulder and the upper back. This also limits the range of motion of the shoulder joint. Damage to the spinal accessory nerve usually happens because of an injury to the back or shoulder.
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 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.
One can only get spinal muscular atrophy only if both of their parents had copies of a defective gene. Furthermore, if the
A few people may know about osteoarthritis and others may not. Osteoarthritis makes it difficult to carry out day to day activities. There are leading key points of osteoarthritis that will help gain understand and cope osteoarthritis better. The three leading key points are symptoms of osteoarthritis, causes of osteoarthritis, and living with osteoarthritis. Symptoms of osteoarthritis can affect your mobility.
Not only does it weaken your muscles, but it makes it very difficult to do day-to-day functions. I could not even begin to imagine what it would be like to have this disorder, or to have a child with this disorder. Also, being that it is the most severe form of muscular dystrophy, it would be extremely hard to live with, if not unbearable. To me being wheelchair bound by the early teens would be just horrible, because of all or the sports/activities that child will have to miss out on. The child also lives an extremely short life with cardiac/respiratory failure setting in around the mid to late
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?