Typica Research Paper

In some cases, an ultrasound can identify bone abnormalities at 14-18 weeks. Cells obtained through chorionic villus sampling or amniocentesis can also be analysed for a genetic mutation. Amount of collagen can be tested through a skin sample and genes can be tested through a blood sample and X-rays to check for bone abnormalities such as the symptoms explained earlier can be used to diagnose.

In addition, there is a risk of Arthritis if the deformity is left untreated for a given reason, but that is rarely the case. Not only are there physical effects but emotional effects. The child may experience a lack of self esteem especially during adolescence which could end in frustration and maybe depression. Walking adjustments such as casts or special shoes have a positive and a negative effect. Large sores or calluses have a tendency to develop with the abnormal walking pattern. In result this would give the child or adult an awkward walk (Mayo Clinic). Types of clubfoot very between three categories: idiopathic, positional, and syndrome. Idiopathic clubfoot can very from a vast majority of cases but most of which are relatively unknown. The child’s foot or feet affected by idiopathic clubfoot are rigid or stiff hence making them harder to fix and manipulate. Secondly there comes Positional clubfoot, which is caused by the baby's prenatal position within the womb. Positional is easier to manipulate and can be fixed by hand. Syndrome clubfoot, is part of a larger syndrome and is especially difficult to treat. Even with treatment

In each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Many of these actions are inherited but, some occur spontaneously

Pathophysiology: This form of muscular disease is caused by a deficiency in motor neuron proteins called SMN or survival of motor neurons. These proteins are necessary for normal motor neuron function. The deficiency is caused by a mutation on chromosome 5 in the gene called SMN1 most commonly. The adjacent SMN2 genes can sometimes compensate for deficient SMN1 genes. Recent research has found that the lack of SMN may, also, affect muscle tissue directly and not just motor neurons.

Whoever has it has an imperfect gene called dystrophin, which keep the muscle cells intact and without it causes weakness to the bones. The causes of Becker are the same as Duchenne. It is caused by an imperfect gene, it’s a genetic disorder. The causes of myotonic are unusually large stretches of D.N.A. the causes of congenital are genetic, lack of collagen, and the deficiency of merosin now today called dlaminin211 was the main reason of congenital muscular disease back in the 1900’s.The cause of limb-girdle are mutation in any genes that affect proteins that you need for muscle function.

Muscular dystrophy is a combination of diseases passed down through genes identified by progressive degeneration of the skeletal or voluntary muscles.(Alicia Foose,PhD, Patricia Ardovino,PhD,2008, p.141). This occurs due to mixture of hypertrophy, atrophy, and necrosis muscle cells. The muscle fibers increase in muscle size and results in muscle weakness while the muscle undergoes necrosis, fat and connective tissue replace the muscle fibers.(Sheila Grossman, Carol Mattson Porth,p.461).There are nine types of muscular dystrophy according to Alicia Foose, and Patricia Ardovino“Duchenne, Becker, Emery-Dreifuss, Limb-girdle, facioscapulohumeral, myotonic, oculopharyngeal distal, and congenital.”Each disease

There are many things that can cause a disease. Marfan syndrome is caused by a mutation in the fibrillin-1 gene. The gene produces a protein that is essential for formatting the elastic fibers found in connective tissue. About 75 percent of people with Marfan syndrome inherit the mutation from one affected parent. A parent who has

In most cases it is an X-linked genetic disorder that is carried by the mother but only manifesting in sons. It is caused by a mutated gene and results in low levels of dystrophin. Whereas normal muscles have dystrophin to help keep their shape and strength, those who suffer from MD tend to lack proper levels of this protein or will not be able to produce it at all. According to the Muscular Dystrophy Association, there are nine types of DM, with the two most common types being Duchenne and Becker. The symptoms of each type tend to differ, but Duchenne and Becker have similar signs: muscle weakness in the extremities, difficulty walking, lordotic posture, and enlarged calf muscles. The most easily recognizable sign of MD is a “toe gait,” which is characterized by the patient walking on his/her toes and walking with an abnormal forward curvature of the spine in the lumbar region. This gait is the result of the lower leg muscles compensating for upper leg muscles that no longer function, and the lordotic posture is due to a tilted pelvis caused by weakened muscles around the

diagnosed before the end of puberty or after, and depending on that can cause different effects. If

Onset of this disease occurs in adulthood. Symptoms associated with this disease include weakness and atrophy in the hip, thigh, and calf muscles, with the symptoms often being asymmetrical. This disease usually has a low progression rate and does not include cardiac or respiratory involvement (Institute of Genetic Medicine, 2007).

In this article, the authors discussed the different types of Congenital Muscular Dystrophy: Fukuyama Congenital Muscular Dystrophy, Muscle Eye Brain disease, and Walker Warburg Syndrome. Congenital muscular dystrophies tend to be less common than other muscular dystrophies. Patients that are diagnosed with Congenital muscular dystrophy show symptoms before they are even born. Most rarely move in the womb, due to neonatal hypotonia. Neonatal hypotonia is known as “floppy baby syndrome”, in which patients do not have enough strength in their muscles to move voluntarily. Then once the patients are born, the symptoms only progress and muscles continue to deteriorate.

One such disorder is Type II Spinal Muscular Atrophy (SMA). This genetic disorder is an autosomal recessive trait that causes muscular

Researchers identified that a gene in the X chromosome that when flawed it is the cause of MD. Dystrophin is the gene that is needed in the X chromosome to have fully functioning muscle development. MD is inherited in only the X chromosome so males have a 50% chance of inheriting the condition if the mother is a carrier, but females have a very low risk because they get an X chromosome from both mother and father. This condition is an X-linked recessive pattern. If a female inherits a mutated dystrophin gene from one of her parents, she will usually get a healthy dystrophin gene from her other parent because the father can pass the recessive gene in the X chromosomes. The female becomes a carrier just like her mother because the mutation is still in her genes . A male who mother who’s is a carrier has a 50% chance of inheriting the mutation and if they do inherit the gene they will develop the disease because they can not rely on

What is the disease? What is the mutation that is associated with the disease? What is known about how the mutation reported in the Journal article results in the disease

One such disease that this paper will be focusing on is known a Muscular dystrophy more specifically a severer case of this disorder known as Duchenne muscular dystrophy (DMD). It is in the group of disorders characterized by a pathological swelling of skeletal muscles caused by the mutation in the DMD gene, located on the X chromosome. It is the most prevalent form of this disease, occurring early in life and affecting nearly one million boys worldwide (Panno, page 11).