Hi group! First off I just wanted to tell you some things I learned when I researched connective tissue diseases. Connective tissue diseases by definition specify them as a group of disorders involving tissue(s) full of proteins. It is these tissues heavily based in proteins that are responsible for the support of organs and other parts of the body. Connective tissue is in our fats, bone, and cartilage. These disorders can involve many different structures including, but not limited to, muscles, joints, and skin. However, they can also have an effect on organs, and organ systems including the eyes, heart, lungs, kidneys, gastrointestinal tract, and blood vessels. I also discovered there are over 200 disorders that affect connective tissue like Ehlers-Danlos syndrome, which is a more common and includes more than 10 disorders. Depending on the severity is can be disabling or manageable.
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In Ehlers-Danlos syndrome is a group of inherited disorders and the skin, joints, and blood vessels are affected the most. In Taylors case, the connective tissue proper that is defective is: collagen and dens connective tissue. Collagen is responsible for holding the overall structure of connective tissue together and it provides strength and elasticity of body structures.
2. Connective tissue and specifically collagen is located throughout the body so the disease is affecting more than just Taylor’s skin and joints. A common problem of Ehlers-Danlos syndrome is that when you get a wound it cannot heal easily because the skin cannot support itself around the damage. A curved spine (scoliosis) fragile and weak blood vessels, bleeding gums, and problems with the lungs, heart valves, or digestion are also symptoms or conditions caused by the
There are more than ten inherited disorders within Elhers-Danlos syndrome. Ehlers-Danlos syndrome (EDS) is a “genetic defect in collagen and connective tissue synthesis and structure” (Schwartz, 2013). EDS affects the skin, joints and blood vessels in most types. In EDS the abnormality of the collagen varies dependent on the type of EDS. Six of the main types of Ehlers-Danlos syndrome include; types I and II EDS which are called the classic type, type III hypermobile EDS, type IV vascular EDS, type VI kyphoscoliosis EDS, type VII A and B arthrochalasia EDS, and type VII C dermatosparaxis EDS (Willacy, 2011).
Ehlers Danlos Syndrome Ehlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into a detailed discussion on two of the six types of EDS. The two major types of EDS are Classical EDS and Hypermobile EDS. These two types make up 90% of all EDS cases.
Dupuytren’s Disease, also known as Dupuytren’s Contractures, palmar fascitis, Viking Disease, or palmar fibromatosis, is a hand deformity that usually develops slowly, usually over years. This disease is caused by the thickening and contraction of the palmar fascia. As the disease progresses, nodules progress to form longitudinal bands referred to as cords on the palmar fascia, and the finger gradually loses extension, with contractures that draw one or more fingers into flexion at the metacarpophalangeal (MCP) joint, proximal interphalangeal (PIP) joint, or both of these joints.
Imagine if you loss control of your body but your mind stayed unaffected. You would be a prisoner in your own body, all leading up to your death sentence. That is the sad fate for the people diagnosed with Amyotrophic lateral sclerosis (ALS). “Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder was first described by Ran in 1850. This description was then expanded in 1873 by Charcot, who emphasized the involvement of the corticospinal tracts. In the United States, ALS is often referred to as Lou Gehrig's disease, after the famous ball player who was stricken by the disease in the midst of his career. (Yale School of Medicine, 2014)” In this paper will go through the definition, the process, the signs, the risk factors, etiology, and discus the known people that have suffered with this terminal disease.
Osgood-Schlatter Disease or syndrome (OSD) is an irritation of the patellar ligament at the tibial tuberosity (Dhar). Osgood-Schlatter Disease is claimed by some to not actually be a disease (Sims). But is rather a collection of symptoms that involves the tibial tubercle epiphysis (Sims). Osgood-Schlatter Disease affects as many as 1 in 5 adolescent athletes (Diseases and Conditions: Osgood-Schlatter Disease). Some other common names for this disease are Osteochondrosis, Tibial Aponphysitis, Tibial Tubercle Apophyseal Traction Injury, Morbus Osgood- Schlatter, and Rugby Knee (Dhar). “This can cause multiple sub-acute avulsion fractures along with inflammation of the tendon, leading to excess bone growth in the tuberosity and producing a visible lump which can be very painful when hit (Dhar). Activities such as kneeling may irritate the tendon further (Dhar).”
In addition to these defects of DM, the normal process of aging is associated with additional risks for the
Not all attributes are obvious for every situation. The lion's share of instances of OI (conceivably 85-90 %) are created by a predominant change in a quality coding for sort I collagen (Types I, II, III, and IV in the accompanying rundown). Sorts VII and VIII are recently recognized structures that are acquired in a passive way. The qualities bringing about these two sorts have been recognized. Sorts V and VI don't have a sort 1 collagen change, however the qualities bringing about them have not yet been recognized. The general components of each referred to sort of OI are as per the
Canavan disease is an inherited disorder that causes progressive damage to the nerve cells in the brain. It is in the group of rare genetic disorders called Leukodystrophies. Leukodystrophies are characterized by the degeneration of myelin, which is the fatty covering that insulates nerve fibers. The myelin is necessary for rapid electrical signals between the neurons. I chose this disease because I had never heard of it and it seems to only affect a very small amount of people. Also it isn’t very common so I wanted to learn more about it, which helped when looking for information
Lou Gehrig's disease is often referred to as Amyotrophic lateral sclerosis (ALS), this is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons come from the brain to the spinal cord and from the spinal cord to the muscles throughout the entire body. The progressive degeneration of the motor neurons in ALS would eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is also lost. With voluntary muscle action progressively affected, for this reason patients in the later stages of the disease may become totally paralyzed (Choi, 1988).
Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions.
Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Amyotrophic Lateral Sclerosis is better known as ALS or Lou Gehrig’s disease. Amyotrophic Lateral Sclerosis was not brought to International or national attention until Famous New York Yankees baseball player, Lou Gehrig, was diagnosed with it in 1939. Jon Stone, the writer and creator of Sesame Street, was also diagnosed with Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis is very deadly and it physically handicaps a person as it progresses. There are two types of Amyotrophic Lateral Sclerosis, Sporadic and Familial. Sporadic is the most common cause in some cases and Familial is inherited, which is rare. Amyotrophic Lateral Sclerosis is one of the most aggressive muscular atrophy disorders, it has many signs and symptoms, and it can be treated but cannot be cured.
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition.
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory
An Orthopedic Impairment is the most common of physical disabilities. A physical disability is any condition that interferes with how a child uses their body. An Orthopedic Impairment is defined as, “A bodily impairment that is severe enough to negatively affect a child’s educational performance” (education). Orthopedic Impairments are often separated into three main categories. These categories are neuromotor impairments, musculoskeletal disorders, and degenerative diseases. Although neuromotor impairments typically involves the brain and spinal cord, they can also affect a child’s ability to move, use, feel, or control certain parts of their body. Musculoskeletal disorders include diseases of the bones and muscles, such as limb deficiency or club-foot. Degenerative diseases affect a child’s motor skills such as muscular dystrophy. This is a group of genetic diseases in which muscle fibers are very vulnerable to damage. Some causes of orthopedic impairments can be genetics, injury, birth defects, disease, burns, fractures, cerebral palsy, and many other circumstances. Some examples of orthopedic impairments that may be caused by a birth defect are clubfoot, spina bifida, and absence of or malformation of one for more limbs. Some examples that may be caused by a disease consist of muscular dystrophy, arthritis, and childhood obesity. Other causes of orthopedic impairment may contain fractures, which cause stiff and/or immobile joints called contractures.
Tissues are composed of groups of cells that have similar shapes and functions. There are four main types of tissue found in the human body: epithelial tissue, connective tissue, muscular tissue, and nervous tissue. Each tissue has unique characteristics that differentiate them from one another. Epithelial tissue covers the surface of the body, connective tissue adds support and structure to the body, muscular tissue contracts to allow movement, and nervous tissue controls the organs (Hoehn & Marieb, 2007, p. 118).