Typica Research Paper

The most common symptom of this condition is pain that occurs during activity. Other symptoms include:

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

Some diagnosing can be made at birth or close to birth because of heart problems, an unusually wide neck or swelling of the hands and the feet.

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.

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

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 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).

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.

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

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).

Symptom onset is in early childhood, usually between ages 3 and 5.(MDA fighting muscle disease). They usually use a nervous system complete test to look for cardiomyopathy,arrhythmia, scoliosis,enlarged muscles, loss of muscle mass, muscle contractions, muscle deformity and respiratory disorders. The tests the use includes EMG,Genetic tests, CPK and Muscle biopsy. (Chad Haldeman,2014)

cases early childhood. It causes weakness of the face and shoulders and upper arm sometimes it shows difficulty of closing the eyes. Distal affects men and women symptoms are affecting the muscles of the arms, legs, and the feet. Symptoms usually comes between forty and sixty.

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

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