Muscular dystrophy is a genetic disease or genetic disorder. Muscular dystrophy is when someone doesn’t have any muscle mass. In the article “Muscular Dystrophy: Causes, Symptoms and Treatments” it says that “The most common form of muscular dystrophy – Duchenne muscular dystrophy – typically affects young boys, but other variations can strike in adulthood.”(Tim Newman) 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. Most people who have this genetic problem will eventually be in a wheelchair bound the rest of their life.
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. This paper will discuss a more in depth look into the symptoms, diagnosis process, treatment options, medications, prognosis, and ongoing research.
The Early phase of duchenne muscular dystrophy begins from the day is diagnosed until the
In keeping the insanity defense as it stands the benefits outweigh the problems. This defense fixes problems with the mentally insane and leads to curing more of the mentally ill. Viewing the defense as a benefit seems to fit if it helps more people than it harms, although other views have been brought against it opposing the defense. The jurisdictions that have kept the defense see it rarely and take it as a claim of innocence.
According to “Deseret News National”, The ten (10) common disabilities American children have are; Autism, Attention deficit hyperactivity disorder, Cerebral palsy, Down syndrome, Epilepsy, Spina bifida, Dyslexia, Dyscalculia, Intellectual disability, Depression. There are other disabilities such as neurological, genetic, chromosomal abnormality, developmental, metabolic, childhood, brain, delays, disorder/ disability, traumatic brain injury, birth defects, Auditory Processing, Visual Impairment, Emotional/Behavior Disorders. “The most common developmental disorder is mental retardation” (L. Straus). According to the CDC, more than one out of every 100 school children in the United States has been diagnosed with some form of mental
The article “Rescue of dystrophic skeletal muscle by PGC-1α involves restored expression of dystrophin-associated protein complex components and satellite cell signaling” by Hollinger and others (2013) looked to investigate the effectiveness of Peroxisome Proliferator-activated Receptor Gamma Coactivate 1-alpha (PGC-1α) gene transfer therapy used to alleviate muscle degeneration in people with Duchenne muscular dystrophy (DMD) disease, who essentially lacks protein dystrophin. The authors investigated how PGC-1α would be able to restore the level of dystrophin by upregulating the expression of utrophin, a similar protein, to act as a substitute and prevent the continuing decline of muscle function. Treatment was done on mouse models, then measured utrophin level histologically, PGC-1α expression biochemically, and muscle force functionally. Positive results were mostly interpreted from the data, showing an increase in PGC-1α expression, higher levels of utrophin and associated molecules, and produced stronger contractions in treated muscle cells compared to the controls. This study was well-produced but adjustments and elaboration were needed.
Ataxia Telangiectasia (A-T) is an inherited disorder that affects the nervous system, immune system, and other systems of the body. The disorder usually progresses before the age of 5 and it makes it difficult for coordination and causes delayed development of motor skills like walking, problems with balancing, and using your hands to grab items etc. A person may even have slurred speech, sway when they walk and wobble. These problems can affect a person as they get older and the effects can become worse as the person ages. Effects vary with each patient some may have severe immunodeficiency in which they cannot produce antibodies to fight off disease.
Everyday day babies are born with disabilities. A majority of these are surprises to the new parents. Conditions such as: Down Syndrome, sensory impairments and neurological disorders are known to most people but still not anticipated. Fragile X Syndrome is a gene mutation that affects thousands of people, making it important to know how the disorder changes the social and emotional aspects of a person’s development and life.
Duchenne Muscular Dystrophy (DMD) was first recognized in the 1890’s by a French Neurologist named Guillaume Duchenne. He studied cases of 13 young boys who had muscle weakness. He followed these boys from hospital to hospital continuing to study them. After performing muscle biopsies he confirmed that the weakness was from a muscle disorder, rather than neurological. He named the disorder of muscle weakening muscular dystrophy, his name was added later on. DMD is muscular disorder that causes progressive weakening of muscles. It is one of nine types of Muscular dystrophies, it is the most common, most fatal, and progresses the fastest. It is genetic through a mutated gene on the X chromosome, it is passed through the Mother. In many cases it happens when there is not any known family history of the disorder.
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
Rett Syndrome, a rare, non-inherited, genetic, neurodevelopmental disorder. It exclusively affects girls as young as six months. An Austrian doctor by the name of Andreas Rett originally described the disorder in a journal article in the year 1966. The disorder was not recognized as a disorder until the year 1983, when a Swedish researcher by the name of Dr. Bengt Hagberg published the disorder.
In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist Guillaume Duchenne gave a comprehensive account of thirteen boys with the most common and severe form of the disease, which now carries his name—Duchenne muscular dystrophy.
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.
has developed an investigational drug called drisapersen for the treatment of DMD. This drug aims to treat 13% of the patients who are responsive to exon 51 skipping treatment. This represents the largest subpopulation of DMD patients, including patients with deletions of exon 50, exon 52, exons 45-50, exons 48-50, and exons 49-50. DMD is caused by the mutations in the dystrophin protein gene. Mutations are, mostly, deletions of one or more exons that interrupt the open reading frame of the transcript and eventually stop the synthesis of the dystrophin protein. Drisapersen, an RNA-modulating therapy, skips the exon 51 in dystrophin pre-mRNA. By skipping one or more exon(s), there is re-establishment of the open reading frame, followed by production of novel shortened dystrophin. By the production of dystrophin, the severity of Duchenne is reduced and it is converted into a milder Becker Muscular Dystrophy