Ehlers Danlos Syndrome

Stories like that of Josie King are truly sad. I believe the first safety concern occurred when the mother’s worries were ignored. As medical professionals, I think it is important to take into consideration that the parents are with the children every day; they know them and what is normal. If the mother was concerned that her daughter was overly thirsty, I think a deeper look into why should have been taken. Josie was severely burned which would mean she would have a much harder time retaining water, easily leading to dehydration quickly. I have no idea what caused her death in the end but ordering some tests to rule out any possible problems does not seem like to tall of an order. Another safety concern would be when the mother stated that

We have many drugs, therapy techniques, and procedures to help slow the progression or help with the pain associated with DMD. There are many varying degrees of severity with DMD and because of this treatment plans vary greatly with the patient's specific needs. Many are given medical interventions to help with mobility. Many use wheelchairs or braces to help them maintain freedom and independance. Drugs like Prednisone, Deflazacort,Cyclosporine and Oxandrolone are used to prolong the ability to walk without aids as much as 5 years. Prednisone is a Corticosteroid that is the most common steriod used to help symptoms of DMD. There is controversy when using this steriod because of the numerous side effects like weight gain, fragile bones, high blood pressure, and behavioral changes. Deflazacort is a synthetic form of Prednisone that has been found to have less side effects. This drug is used in Europe. Cyclosporine is a medication that is very controversial because it's possible it causes myopathy. Oxandrolone is still being researched but it is believed to have similar results as Prednisone with fewer side effects.(National Human Genome Research Institute, 2013) People with DMD may need other medications for secondary issues like asthma, or heart complications. Surgeries are also an option to help correct spinal curvature or fix issues with the heart. Therapies are the most common among all varying degrees of Duchenne Muscular Dystrophy. Range of Motion exercises will help keep flexibility in the affected joints. These exercises will also help to prevent muscle shortening. Low impact exercises like swimming are highly to maintain mobility., flexibility in joints, and strength.(Mayo Clinic,

On 10/16/2015 I spoke with Kalila Dowden, parent of Kaylee P. at the operation . Ms. Dowden had come to pick her daughter up while I was at operation for the inspection. I spoke with Ms. Dowden in the office. Ms. Dowden stated Shana Myers the teacher of Kaylee had contacted her and stated she believed Kaylee had a seizure on the playground and EMS had been called. Ms. Dowden stated she had told Ms. Myers she was on her way. Ms. Myers stated shortly after arriving at the center EMS had shown up and she had refused care as she believed her daughter did not need to go to the hospital. Ms. Dowden did state she did not take her daughter to the doctor or hospital as her Neurologist is in Dallas and Ms. Dowden states she is aware of what she is suppose

Only take ibuprofen or Tylenol if you are experiencing muscle soreness or muscles cramps. You also need to hydrate on plenty of water so you don't get severe muscle soreness or muscle cramps. One thing that people with DMD are required to do is physical therapy. Do DMD people have to do anything special? Yes. If they are in a sport, they need assistance quite often because of their disorder. Their diet is the same as for anyone else. People with DMD will either be in wheelchairs, braces, or standing

R/s around November 05, 2014, Calli (8) was severely injured. R/s Calli had extensive bruising to her face, two black eyes, facial swallowing, and bruising to her jaw. R/s also bruises was on the child’s lower back and upper leg. R/s it was reported that Calli could have had skull fracture. R/s the injuries was reported as suspicious nonaccidental trauma. R/s at the time of the incident Calli and her stepmother, Karen were the only two people at home. R/s Calli’s father Patrick was traveling out town for work. R/s on November 06, 2014, Patrick found Calli with the injuries to her face and the child was taken to the ER at Palmetto Health. R/s Karen pretended to the Calli’s mother. R/s according to Karen, Calli had fallen several times the few

Ehlers-Danlos syndrome is one of several disorders that can affect the body in similar fashion, so doctors need to make a differential diagnosis to ensure that it is not something else, such as Marfan syndrome. Like EDS,

Ehlers-Danlos syndrome (EDS), classic type is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. It includes two previously designated subtypes (EDS type I and EDS type II) that are now recognized to form a continuum of clinical findings. The skin is smooth, velvety to the touch, and hyperelastic; i.e., it extends easily and snaps back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is delayed, and stretching of scars after apparently successful primary

Ehlers-Danlos Syndrome (EDS) is a collection of heritable connective tissue disorders. Either directly or indirectly, Ehlers-Danlos Syndrome has been known or thought to alter the biology of collagen in the body. There are physical characteristics that are common to all types of Ehlers-Danlos Syndrome, including hypermobile joints (joints that move in greater amounts than expected) and skin involvement, such as any of the following: soft, stretchy, saggy, too thin, easy bruising, easy wounding, poor wound healing and/or atrophic scarring. Each type has very specific and unique features. It is very unlikely to have more than one type of Ehlers-Danlos syndrome, but as they have features and ‘biology’ in common, each type may appear to have

Emery-Dreifuss Muscular Dystrophy (EDMD) - This is 1/9 types of muscular dystrophy, these diseases mainly affect your voluntary muscles. It’s named after Alan Emery and Fritz Dreifuss, physicians who first described this disease in the 1960s. EDMD is caused by gene mutations that cause the produce of proteins in the nuclear membrane of each muscle cell. Also it can be inherited in a number of ways, but each inheritance pattern usually has the same symptoms. EDMD usually shows itself by the age of 10 and it’s described as the wasting and weakness of muscles making up your shoulders, upper arms, and calf muscles of legs. Another major EDMD aspect is appearance of contractures (stiff joints) in the elbows, neck, and heels early in the disease’s

EDS in Parctice (n.d.) reports that diagnosis of EDS is hampered by the fact that symptoms of EDS such as joint hypermobility, can mimic normal pre-adolescent growth. Ehlers-Danlos syndrome hypermobility type, also known as Joint Hypermobility Syndrome (EDS-HT/JHS), is the most common hereditary disorder of the connective tissue (HDCT). It is characterized by tissue fragility, joint hypermobility and a wide range of articular and non-articular manifestations, which often appear in infancy (Baeza-Velascoa, Grahameb, & Bravoc,

Special concerns- Again, depends on the SCI sustained but it is important to avoid anything that may further or enhance the injury. How activities are adapted to facilitate the individuals ability to perform should be done on a case by case basis.

The first of the major types, classical type, previously type one and two,is an autosomal dominant type five collagen disorder. In more than 50 percent of patients the gene abnormality responsible is either COL5A1 or COL5A2. The disease is diagnosed through clinical examination using the beighton diagnostic scale, a test to determine joint hypermobility as well as family history. Classical type is determined by in order of occurrence; skin hyperelasticity, Wide atrophic scars, joint hypermobility, velvety skin, easy bruising, subluxations and dislocations, flat feet, muscle hypotonia, gross motor disease, postoperative complications, tissue fragility. Although there is no cure for any type of EDS the symptoms can be treated and complications

The manifestations in EDS continues to be difficult in characterizing and quantifying the prevalence of the many clinical symptoms seen in this syndrome. Study subjects are often diagnosed later in the disease process which causes disproportionate groups with few subjects in the early symptomatic stages. The groups that have been studied demonstrate the following clinical issues. Skin hyper-extensibility is the primary Dermatologic feature seen in EDS. To test the skin doctors find a neutral area with no scarring. The skin is stretched until resistance is noticed and the degree of extension is measured. Skin is considered hyper-extensible if measurements are 1.5cm and beyond (see figure 1) [4,7].

Ehlers-Danlos Syndrome consists of a range of rare diseases that all involve errors in the way the body synthesizes collagen or the agents that interact with it (Levy, 2004). Over the years, researchers have identified ten different syndromes that are classified under Ehlers-Danlos Syndrome, but there are many other types that are both rare and poorly defined in medical literature (Levy, 2004). The six types defined by the Villefranche nomenclature are as follows: Classical Type (further divided in gravis and mitis types, the former being a milder version of the former), Hypermobility Type, Vascular Type, Kyphoscoliosis Type, Arthrochalasia Type, and Dermatosparaxis Type (Ehlers-Danlos syndrome, 2015) . For the former three types, current

Eric, a 9 year old boy, was diagnosed with a hereditary degenerative disorder called Ataxia-Telangiectasia and also suffers from a loss of coordination and balance, and has limited communication skills. Eric was very determined, well behaved, and respected by his classmates. Eric’s IEP stated he should be included in general physical education classes with the assistance of his peers and be given modifications or adapted equipment when needed.