Duchenne Muscular Dystrophy Case Study

Exercise proposals, for example, strengthening and stretching exercises of the lower back and stomach are particularly useful. These can incorporate riding a bicycle, and performing exercises that require flexing of the spine. The patient ought to try to play out these exercises all the time.

Cancer, heart disease, blood disorders, nerve disorders, and many more genetic diseases are affecting millions of people around the world. The more society advances, the more degenerate diseases are affecting the citizens. For a number of years researchers have been searching for cures. With new developments in gene editing, treatments for many diseases are just around the corner. Gene editing with new technology, CRISPR, matches with a specific gene and splits the protein. The researchers then combine the broken gene with a healthy gene. This new healthy gene is now modified and free from the mutation it had before. Although many individuals’ ethics and morals stand in the way of gene editing, this technology affects society in many different

I have been very luckily treated for multiple generic disorders in America since 2001 as a result of advancing medical science and the stunning performance by physicians, surgeons, clinicians and therapists. The medical practitioners had introduced me hopes again and again. It was when I woke up from general anesthesia in Massachusetts General Hospital my surgeon explained to me the implantable device on clinic trial failed to correct my generic disorder; however he reassured me this was not the end of it and we’ll try another device expected to be available after FDA’s approval in a year. I would have a shortened life expectancy if this disorder was left untreated into my middle-age adulthood. Six years later, another doctor in South Carolina identified a

As a result, muscle cells are very weak and fragile. DMD occurs primarily in boys but can occur in girls (very rare), and can occur in any race. Symptoms occur in very early childhood, usually before 6 years old. Some signs and symptoms are clumsiness, delayed motor skills, trouble climbing stairs, trouble running, trouble maintaining balance, and enlarged calves. Intellectual disabilities are possible but are not always present, and they do not get worse over time. The muscles of the hips, pelvis, thighs, and shoulders are usually affected first. During the teenage years the child is usually wheelchair dependent due to the muscles being unstable. The heart and lungs are also affected by the mid-teens. As a result, breathing disorders and an enlarged heart

Amyotrophic lateral sclerosis, commonly referred to as ALS or Lou Gehrig’s disease, is a disease that either can be passed along genetically through a family line or develop sporadically if a genetic mutation occurs in an individual’s DNA. There are numerous genes in which a mutation could lead to the development of ALS. These genes include SOD1, FUS, C9or72, ANG, SETX, TARDBP, and VPB genes. The most common mutated gene, especially in familial ALS in the United States, occurs on the C9or72 gene with the SOD1 following closely behind. ALS occurs less through inheritance as it does sporadically; however, it is usually autosomal dominant when inherited. There are some cases where the disease can either be autosomal recessive or X-linked, but these are less common.1

For me to consider this a challenge would be weird, because I don’t feel like it deserves to be one, knowing that there’s people out there that have life way worse. I don’t like to think of it when I describe myself. This doesn’t define who I am and what I can do as a person, it just adds a little something extra.

Adrenoleukodystrophy is a type of genetic condition brought about by the lack of the functional organelle peroxisomes. ALD damages the membrane that wraps around the nerve cells in the brain. Adrenoleukodystrophy, or ALD, is a deadly disease that is estimated to affect 1 in 17,000 newborns, and starting in 2015, some states in the U.S. have added a simple blood test to detect ALD at birth. It affects boys and men. ALD is most apparent in children between the ages of four and ten. Young males seem to be healthy and normal when they begin to show problems with regression of their normal activities. At first, ALD begins with behavioral problems or difficulty concentrating. As the ALD disease progresses and damages the brain, the symptoms start to get

Musculoskeletal disorders (MSDs) are injuries that affect a person’s body movements or musculoskeletal system. The musculoskeletal system includes muscles, tendons, ligaments, nerves, and blood vessels. Some common MSDs are carpal tunnel syndrome, tendonitis, and repetitive strain injuries. MSDs are common and costly problems for people and companies across the world. MSDs are the single largest category of workplace injuries and are responsible for 33% of all workers’ compensation costs.

Today, up to 1 million Americans live with Parkinson's disease. Approximately 60,000 Americans are diagnosed with Parkinson's disease each year, not including the thousands of cases that go undetected. An estimated seven to 10 million people worldwide are living the Parkinson’s disease. After reading these statistics found from Michael J. Fox Organization, it is obvious that this disease is a major problem. But what is it exactly? People with Parkinson’s disease lack dopamine-producing nerve cells, or neurons, since the disease targets and kills these cells. Dopamine is important for us because it is a chemical that allows messages to be sent of the parts of the brain that control movements and some forms of thinking. The disease also affects

X linked or sex-linked ALD is a genetic disorder in which the impaired gene contains incorrect instructions for the enzyme responsible for the metabolism of very long chains of saturated fatty acids. The defective chromosome inhibits the function of the specific enzyme that breaks down VLCSFA, causing them to accumulate in the nervous system. The accumulation of VLCSFA causes the myelin sheath to strip away from the axon causing demyelination. Initial symptoms in Lorenzo affected with the childhood cerebral form of ALD include emotional instability, hyperactivity and disruptive behavior at school and home. He showed symptoms of visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances

X linked or sex-linked ALD is a genetic disorder in which the impaired gene contains incorrect instructions for the enzyme responsible for the metabolism of very long chains of saturated fatty acids. The defective chromosome inhibits the function of the specific enzyme that breaks down VLCSFA, causing them to accumulate in the nervous system. The accumulation of VLCSFA causes the myelin sheath to strip away from the axon causing demyelination. Initial symptoms in Lorenzo affected with the childhood cerebral form of ALD include emotional instability, hyperactivity and disruptive behavior at school and home. He showed symptoms of visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances

Since I have the goal to become an active old lady, I have to maintain the body daily and to avoid regressing, which makes the dyspraxia surface. 

It is very important to train on a regular basis and keep active during the day. Therefore, I often walk in the stairs instead of using the elevator or escalator and walk to my job instead of taking the bus. Small things like that makes a huge difference.

Huntington’s disease is a disease of the brain wherein a person’s capability to think, talk, and move is affected. The disease was first described by Dr. George Huntington in 1872. The actual gene was not characterized until 1993. In Huntington’s disease there is a mutation of a gene on chromosome 4. The protein (huntingtin) for the gene is responsible for directing the delivery of vesicles to the outer area of the cell. The normal coding for this gene is CAG repeated many times, the number of repeats vary by person (ranges 10-26). When a person has Huntington’s they develop an abnormally high number of these repeats, around 40 or more. This mutation can lead to accumulated clumps of huntingtin that can lead to cell death. Although scientists

Maternal grandmother was estranged from the family, but after the findings in the family she was contacted. She endorses having a retinal problem since age 40 that has lead her to be legally blind. As per her primary ophthalmologist she presented in her 40s with a retinitis pigmentosa like picture with chronic cystoid macular edema.