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Ehlers danlos syndrome facies
Ehlers danlos syndrome facies
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Ehlers-Danlos Syndrome (EDS): The name for this disorder comes from two physicians; Edvard Ehlers whom was a Danish dermatologist and Henri-Alexandre Danlos a physician from France who specialized in chemistry of skin disorders. Ehlers-Danlos syndrome is a disorder of the connective tissues that is inherited by a child from their parent. The fragility of the skin and looseness of the joint can often be a result of abnormalities in the genes that produce collagen. It is categorized into numerous primary types. The abnormalities in this connective tissue disorder may cause hyper-extensibility of the skin, delayed bruise healing, fragility in the tissues and hypermobility of the joints. Certain patients with Ehlers-Danlos syndrome can perform unnatural contortions, some have again gained fame by exploiting their condition and performing in traveling shows and circuses, receiving nicknames such as “The Elastic Lady” and “The Human Pretzel”.
Types of Ehlers-Danlos syndrome:
• Hypermobility: extreme joint mobility can be an indicator of this form of the disorder which may result o...
Ehlers-Danlos sydrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen).
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 involve 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-
The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. At birth, the bones of the skull are not joined together; they close up as the child grows. In Jackson-Weiss syndrome, the skull bones join together too early. This is called "craniosynostosis." Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features. The big toes are enlarged and bend away from the other toes. They have very different ways off forming in the feet including the big toes are short and wide, the big toes also bend away from other toes, and the bones of some toes may be fused together which they call “syndactyly” or abnormally
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
Kinesiology: The Mechanics & Pathomechanics of Human Movement (Second ed.). Glenside, Pennsylvania: Lippincott Williams & Wilkins. Qiao T, Liu C and Ran F. (2005) The impact of gastrocnemius muscle cell changes in chronic venous insufficiency. Eur J Vasc Endovase Surg 30; 430-436.
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).
...can see if this condition runs in the family. A physical examination is a good way to tell is there is any type of muscle weakness or spinal curvature.
This type of joint mainly includes long bones as it’s necessary for movement in the skeletal
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
Catherine and Kirstie Fields are twins from Wales and the disease is named after them. The disease causes muscular degeneration. Fortunately those two girls are still alive and there has been no mutation in their brains and their personalities also have not changed.
M.S., as some would call it, also known as multiple sclerosis is a neurological disease. This disease, in particular, could also be viewed as an autoimmune disorder. It is not nearly as fatal as the sexually transmitted disease (AIDS), yet it can be just as debilitating. What exactly is Multiple Sclerosis? Multiple sclerosis is a disease in which the immune system malfunctions and begins to attack the myelin sheath. The myelin sheath is an insulating cover around the nerves. Myelin provides the nervous system with communication signals. Once the myelin starts to deteriorate, the signals providing specific voluntary movements become distorted. After the self-involuntary damage, scarring begins to form thus concluding the term, sclerosis.
The CMA states: Musculoskeletal conditions differ in etiology and the severity of physical impairment. However, all can have an impact on physical function, which may in turn have a negative impact