Ehlers-Danlos Syndrome

Vast amounts of money are being spent on the treatment of these illnesses (to say nothing of the pain and discomfort that is endured by the sufferer), yet the number of patients continues to increase. With the right education, however, many people could be helped to understand the causes of their problems

Ehlers-Danlos syndrome (EDS) is a clinical diagnosis and is a connective tissue disorder characterized by a variety of degrees of joint hypermobility, skin extensibility and tissue fragility. If you have the vascular variety of EDS there is a likely 50% chance it could be passed down from parent to child. When trying to clinically define the pain in EDS, the findings are poor. There are nine different types of EDS and each type is distinguished from others but that depends on the system involved. “Most types of EDS are inherited as autosomal dominant trait, although x-linked and autosomal recessive types have been described” (Beighton). EDS type III is the most common disorder with presenting with generalized joint hypermobility

Listener Relevance: Duchenne Muscular Dystrophy (DMD), is more common than people think and chances are sooner or later you will know of or see somebody affected by this disease.

After hearing Ariel’s experience with Ehlers-Danlos Syndrome I was curious to hear how much did Grey’s Anatomy truly simplify her condition? After reading a book about this disease it gave me more insight to what these individuals go through on a daily basis. The young woman easily popping her joint back into place is not how they actually live, once that happens they are excruciating pain, without the ability to just place it back. Several who become ill with EDS have pulmonary issues, suddenly causing death? Patients with this dominant disorder have shortened life due to complications from ruptured vessels or hollow organs (Acton 7). Grey’s Anatomy brought EDS awareness, but slightly touched on the actual affects of having it.

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,

Additionally, contractures, which hinder the movement of joints, may occur along with the inability to bend the elbows. Heart problems will also occur and by the age of 20, they will become more common. If left untreated, the patients affected will eventually suffer a stroke and die. Emery-Dreifuss patients will also experience abnormal heartbeats that can lead to even slower one. However, the insertion of pacemaker can easily aid to these problems and be lifesaving.

Looking back, there were a lot of things that made more sense following my diagnosis with Ehlers-Danlos Syndrome, commonly referred to as EDS. This is a rare genetic condition separated into six different types; Classical, Hypermobility, Vascular, Kyphoscoliosis, Arthrochalasia, amd Dermatospraxis. There are varying degrees of symptoms and seriousness but a common thread is the defect in the collagen proteins which allow the skin, joints, connective tissues, and organs to function properly. EDS can also lead to many other unrelated diseases or disorders due to the malfunction in the body. The varying types and degrees in which EDS manifests itself makes getting a diagnoses difficult, especially at a young age.

Today, there are over 12,000 known illnesses in the world; most of these illnesses are more common and are heard of more often than others, but some illnesses are more strange and rare than one may think. In some cases, people may not call their illness an illness because it is way too “bizarre,” and they feel that no one else has the same problem as them. Some of these bizarre illnesses are a lot more common than one would think. Some of these bizarre illnesses may include; Alien Hand Syndrome (AHS), Street Light Interference data exchange syndrome (SLIde), Kleine-Levin Syndrome, Guillian-Barre Syndrome, and Foreign Accent Syndrome (FAS). Each of these illnesses are so bizarre, one probably would not think that having it was even possible.

Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease, is a neurological disorder that involves the degeneration of motor neurons. Commonly, ALS is referred to as “Lou Grieg’s disease” after the New York Yankee Hall-of-Famer, who was diagnosed with the disease in 1939 (mayo Clinic, 2010). According to the national institute of neurological disorders, ALS is a rapidly developing, consistently progressive, invariably fatal neurological disease that’s attacking the nerve cells needed for controlling voluntary muscles, or movement.” (NINDS, 2010). The muscles go through atrophy, which means the muscles gradually weaken and wasting away. Furthermore, ALS affects the neuromuscular system, which “enables our bodies to move

She does not want to be look at as burden or an inconvenience. Her diagnosis has made her appreciative of life. Her newfound thought process have been to take one day at a time, make the best out of each movement she has, and to live life to the fullest. She is currently improving her diagnosis by trying to be as active as she can and view her ailment as a new journey and opportunity to go back to school. Multiple Sclerosis causes Erica to have chronic fatigue, partial blindness (eyesight issues), and body pain. She expresses that there are days when she is unable to do anything at all except lay in the bed. Erica states that her spiritual journey with God has become her best coping mechanism along with her family’s support. Praying and focusing on the Word of God has helped her come to terms with her diagnosis. Erica realizes that a different normal does

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in $4 joints over a period $3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled

Ehlers Danlos syndrome has many different types with unique qualities. The most dominant type, hypermobility type, causes subluxation, dislocation and even tears in the joints. Vascular type, which is regarded as the most serious type, can cause organ or arterial rupture. Classical type has most of the qualities of Hypermobility type as well as hyperextendability of the skin. This is just to name a few of the six predominant types of EDS.

Many people don’t know much about ALS; ALS is better known as “Lou Gehrig’s disease”.” ALS is a progressive disease that affects nerve cells in the brain and spinal cord and the muscles throughout the body”. Musculr Dystrophy Assocation. "Stages of ALS Amyotrophic Lateral Sclerosis." Muscular Dystrophy Association. N.p., 2014. Web. 01 Nov. There is no clear-cut time frame for how long somebody has after they get diagnosed with this disease. Some peoples symptoms gradually grow over time, others occur rapidly, and then plateau. With this disease there is much care needed. Although there isn’t a cure there are treatments to help slow

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000

I enjoyed reading your post on Marfan syndrome (MFS). I concur with your diagnosis of Marfan syndrome for the 15-year old male in case study #4. According to Timble, and Saal (2013); Yip and Sawatzky (2014), Marfan syndrome is a genetic autosomal dominant ailment and multi-organ syndrome of the connective tissue with widespread clinical variations, that distress about 1 in 5000 individuals. Marfan syndrome principal characteristics comprise that of musculoskeletal, cardiovascular and ocular systems and related to its extensive gradation of variation, arrays of the clinical characteristic could exhibit at natal, or evident subsequent in childhood and at maturity (Timble & Saal, 2013).