Trevor Disease Essay

Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. This is Tay Sachs Disease, it is a disease that is lifelong, that is, unless it kills you early on in life. This disease has lots of symptoms. These symptoms are a result of how the disease affects the brain and its functionality. This disease is an inherited disease, and is known as a serious genetic disease.(“Health and Wellness Resource center and Alternative Health Module”). This disease is a autosomally recessive disease that is caused by a defect in the HEXA gene which provides instructions for making part of an enzyme called beta hexosaminidase A, which is critical in the brain

Previous research by Kaplan in the Skeleton in the closest devoted an article on Harry Eastlack living with the disease. Harry Eastlack is the perfect example of unnecessary biopsies and surgical procedures that greatly exacerbated his condition. During Harry’s lifetime, he experienced eleven operations because doctors failed to focus on the connections between the heterotopic ossification and the malformation of the toes (Kaplan, 2013). He was born with malformed toes, yet it wasn’t until his leg was struck by a car at the age of five that caused the progression of the disease. After the car accident, the flare-ups began and formed heterotopic bone in his lower limb. As the disease advanced Harry was unable to function with normal daily activities and was moved to a nursing home. Figure 4 illustrates the progression of Harry Eastlack fibrodysplasia ossificans progressiva throughout his life. Prior to his death he made a noble decision to bequeath his body and medical records to The Mutter Museum of The College of Physicians in Philadelphia for future generations to learn and study his disease (Kaplan 2013). Till this day, scientific researchers refer to his medical records as a guide to the disease. Although, Harry was never diagnosed with fibrodysplasia ossificans progressiva during his life, his contribution has made a significate impact with the members of the fibrodysplasia ossificans progressiva

It took the knockout of Hall of Fame quarterback, Troy Aikman, to get the NFL to finally take concussions seriously. Amyotrophic Lateral Sclerosis known as (ALS) is a disease that causes neurons which control voluntary muscles. Makes people weak also difficult to speak, swallow, and breathe. Chronic Traumatic Encephalopathy known as (CTE) is also described as brain degeneration. It is coming more common now in the word that athletes are now more likely to get CTE or ALS. People need to become aware of what might happen if changes are not changed in the world of athletics. All measures should be taken to make sports safer, in doing this rules need to changed dramatically to not cause CTE or

42-year old Mandy Sellars is a British woman that was born with very unusual medical condition. While her upper body is completely normal, both her legs never stop growing since birth. It weighed 210 lb or 95 kg. It so heavy that she uses crutches to aid her to roam around. She has undergone surgery on her left leg as it gets amputated and started using a wheelchair, to her surprise, the leg has started growing back.

When putting the “Bubble Boy Disease” in the past, gene therapy can be the time machine to send it back. Gene therapy can help replace infected cells in a patient’s body with healthy, new cells. SCID is a severe disease that can be greatly impacted by gene therapy. New advancements are being made and a gene therapy method can be used to transfer bone marrow into the patient, instead of transferring the cells. The future of gene therapy can help cure SCID.

Fibrodysplasia Ossificans Progressiva disease also known as ‘FOP’ is a rare genetic disease of the connective tissue. FOP can be characterized by malformations of the big toe. This malformation is a characteristic feature that helps distinguish the disease from other muscle and bone issues. It is a disease that is caused by a mutation in the bodies repair mechanism. This causes muscle and connective tissue such as ligaments and tendons, to be ossified spontaneously or when they are damaged. Sometimes the bone can be permanently frozen in place in some cases. FOP is usually seen in early childhood it starts with the neck and shoulder and proceeds down the body and into the limbs. People who suffer from FOP are basically imprisoned by their own skeleton. Majority of FOP cases are sporadic and are a result from a new gene mutation (Lerardi-Curto and Lynne). This mutation is an autosomal dominant disorder; this means it affects those who are heterozygous with a homozygous recessive partner because of this it means their children will have a fifty percent chance of having FOP. Most cases of FOP are a result from new mutations in the gene. People who have FOP and have the heterozygous phenotype have less severe affects than those who have the homozygous dominant phenotype. Patients who have FOB have the ossification gene that is still working in their bodies and it is usually turned off after a

The severity of this condition can be classified into 4 different types based on the Brooker classification. But the simpler classification model only has 3 levels, going from grade A all the way to grade C. Grade A is the least severe, to be classified as this the bone fragments have to be less than 1 centimeter and there has to be at least 1 bone island. Grade A basically means the presence of a bone fragment in the tissue but it is so small it is practically irrelevant. Grade A is the only classification where heterotopic ossification is not present. Grade B on the other hand is classified when there is still at least 1 bone island but they are at least 1 centimeter in length instead of less than 1 centimeter. There also has to be a presence of bone spurs in the femur or pelvis, plus the different bone surfaces have to be 1 centimeter apart. The final of the simpler, 3 grade,

Thanatrophoric dysplasia is another type of dwarfism. Symptoms of thanatophoric dysplasia I include curved thigh bones and flattened spine bones (Vago et al. 2000). Thanatophoric dysplasia II symptoms include thigh bones that are straight and a skull that appears like a cloverleaf (Vago et al. 2000). Both variations of thanatophoric dysplasia are distinguished by very short limps and extra skin folds, underdeveloped lungs, large heads, short ribs, narrow chests, and an enlarged forehead (Vago et al. 2000). Most people with this condition are usually either stillborn or do not survive long after birth because of respiratory failure (Vago et al.

Anderson Quillan Syndrome (AMS) is a rare disease with a prevalence rate of 300/100,000 as determined by a recent ecological study. There is speculation that AMS is a consequence of certain exposures, namely increased tea or chocolate consumption and smoking. There is a possible genetic link, but not all AMS patients exhibit this genetic risk. A case-control study (CCS) is proposed in which AMS cases are compared to two control groups. Control group C1 are living genetically related family members of AMS patients and control group C2 is a more diverse cohort of non-AMS subjects without known family history of AMS. The primary goal is to determine whether there is an association between the named exposures and AMS. The secondary goal is to determine whether the presence of a known family history of AMS is a confounder.

Abnormal bone growth and development leads to easily recognizable symptoms, for example unproportionate stature. Affected persons have relatively small limbs and a large head with an extruding forehead and a flat midface, usually with a regular sized torso. This is because

They may also display some signs of hip dysplasia which is the crookedness or misalignment of the hip joints or cauliflower ear which is a deformation in the cartilage in the ear. Diastrophic Dysplasia may also lead to deformities of the hands such as brachydactyly, the shortening of a finger or fingers, or hitchhiker's thumb.

Gaucher disease (GD) is an autosomal recessive inborn error in the pathway of sphingolipid catabolism. Biochemically, this disease is characterized by a deficiency of lysosomal β-glucosidase (glucocerebrosidase GCase, E.C.3.2.1.45) enzyme due to the mutation of GBA gene [1]. The natural substrate of this lysosomal enzyme is glucocerebroside (also called glycosylceramide) mainly present on the cytoplasmic face of cellular membranes and on the cell surface. Lysosomal β-glucosidases play a key role in recycling of this substrate by degradation of glucospingolipid from membranes of apoptatic white blood cells and senescent red blood cells. Genetic mutations of GBA gene affect the enzyme`s catalytic activity and stability and results in the storage

Epiphysiodesis is a surgical treatment that the unions the diaphysis and the epiphysis of a bone which results in the cessation of growth in the bone while maintaining the function of muscles and joints. This procedure is more commonly known as bone lengthening, bone shortening, correction of unequal bone lengths, femoral lengthening, and femoral shorting. This surgical procedure is frequently used to correct legs of unequal lengths. Unequal lengths are when a leg bone grows more slowly in one leg than on the other leg. Surgical treatment is suggested for differences exceeding 2.5 cm.1 Leg lengthening or shortening surgery is usually recommended for severe unequal leg lengths which can result from poliomyelitis; cerebral palsy; septic arthritis;

Frowen, P., O’Donnell, M., Lorimer, D. and Burrow, G. (2010), Neal’s Disorders of the Foot,

At T0, 3/13 children with ACH (1 male; aged 4.3, 13.4 and 14.6 years) had had A&T (at 3.3, 9.0, and 4.0 years of age, respectively). Moreover, both children with congenital spondyloepiphyseal dysplasia (5.2 and 9.6 years old) had had A&T (at 2 and 4.5