Presentation on theme: "Friedreich’s Ataxia Lilli A weakening, life-shortening, decaying neuro- muscular disorder that arises between ages 5 and 15 and has a very rapid growth."— Presentation transcript:
Friedreich’s Ataxia Lilli A weakening, life-shortening, decaying neuro- muscular disorder that arises between ages 5 and 15 and has a very rapid growth.
Background of Shawn Peters He is a 14 year old who has been to the doctor because he had lost my coordination in his left arm and has been sent to the hospital to get an MRI and CT scan.
Symptoms: ●Loss of coordination in the arms and legs ●fatigue ●vision impairment ●hearing loss ●slurred speech ●aggressive scoliosis ●diabetes ●A serious hear condition
Diagnosis: It usually begins with a physical exam that will focus on checking the nervous system where they will look for problems like poor balance, lack of reflexes and lack of sensations in the joints. They may also take an MRI scan of the brain and spinal cord and do a CT scan. Genetic testing can also be performed to see if the mutated frataxin protein is present. Electromyography is another procedure that can be done to ensure the electrical activity of the muscle cells. To find outgrowth quickly, a nerve conduction study may be completed. In addition, a doctor may undergo an eye exam to check the optic nerve for signs of damage. Lastly, an echocardiogram or an electrocardiogram may be done to diagnose a heart disease.
Treatments: There are no treatments but patients are monitored for system management. Physical therapy can be an option and it will prolong the use of arms and legs. Medications may also be taken to treat diabetes and heart disease. If someone has a curved spine or problems with their feet they can wear a brace, wear another orthopedic device or have surgery on the area.
Prognosis: Within 15-20 years after appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals become completely impaired.
Error in communication: 30 copies of a specific DNA sequence are not produced which causes the production of the DNA sequence to get out of control. This causes severe damage to the brain's cerebellum and your spinal cord.
Orthopedic Surgeon Orthopedic surgeons treat the majority of muscle and skeletal problems. They perform physical exams, design treatment and therapeutic plans and keep track of patients progress to meet their needs. They do surgeries like back, spinal and joint replacement surgeries. They also repair bones. They are in charge of the entire orthopedic department which includes physician’s assistants, nurses and surgery technicians. They assign assistants and technicians to do certain things and surgeries and make sure everyone is doing something in order for the operation to go smoothly. To become an orthopedic surgeon one must obtain a medical doctorate degree and postgraduate training in orthopedic surgery. If someone with friedreich's ataxia has a curved spine or problems with their feet they will get surgery by these people to treat their problem.
Physical Therapist Physical therapists help restore function, improve mobility, relieve pain and prevent or limit physical disabilities of a patient's injury or disease. Moreover, they promote patients' total fitness and health.They work with a health care team which includes psychologists and occupational therapist. Physical therapists work in hospitals, nursing home and rehabilitation centers. They test patients and create certain programs of treatmen. They may massage patients to improve the conditions of their muscles, relieve pain by putting ice on areas to reduce heat or swelling, or use therapeutic equipment like ultrasounds machines, UV and infrared lamps and whirlpool baths. They teach patients how to do excercises with certain equipment and teach both the patients and their families how to use and take care of wheelchairs, canes and crutches, braces and artificial limbs. In order to be a physical therapist they need to get a Doctor of Physical Therapy Degree. By using physical therapy people with friedreich's ataxia may be able to have coordination in their arms and legs longer.
Sources: Diagnosis Friedreich's Ataxia. (n.d.). Retrieved November 14, 2014, from http://mda.org/disease/friedreichs- ataxia/diagnosis FARA - What is Friedreich's Ataxia? (n.d.). Retrieved November 14, 2014, from http://www.curefa.org/whatis.html NINDS Friedreich's Ataxia Information Page. (n.d.). Retrieved November 14, 2014, from http://www.ninds.nih.gov/disorders/friedreichs_ataxia/friedreichs_ataxia.htm Orthopedic Surgeon Job Description, Career as a Orthopedic Surgeon, Salary, Employment - Definition and Nature of the Work, Education and Training Requirements, Getting the Job. (n.d.). Retrieved November 14, 2014, from http://careers.stateuniversity.com/pages/7965/Orthopedic-Surgeon.html Physical Therapist Job Description, Career as a Physical Therapist, Salary, Employment - Definition and Nature of the Work, Education and Training Requirements, Getting the Job. (n.d.). Retrieved November 14, 2014, from http://careers.stateuniversity.com/pages/489/Physical-Therapist.html Summary. (n.d.). Retrieved November 14, 2014, from http://www.bls.gov/ooh/Healthcare/Physical-therapists.htm APA formatting by BibMe.org