Mitochondrial Myopathy Case Study

Normocephalic atraumatic. Pupils equally round and reactive to light, extraocular motions intact. Oral cavity shows oropharynx clear but slightly dried mucosal membranes. TM (tympanic membranes) clear. Neck, supple. There is no thyromegaly, no JVD. No cervical supraclavicular, axillary, or inguinal lymphadenopathy.

In the aspect of speaking and his development, he is able to build on vocabulary that accommodates and reflects on his past experiences. He is also able to talk in pretending objects are something

Visual fields are full to confrontation. Extraocular muscles intact. PERRLADC. Normal facial symmetry, sensation, and movement. Tongue and uvula are midline. Normal auditory acuity. Normal shoulder shrug.

Was intact to primary modalities in the upper extremities. Decreased in a stocking distribution bilaterally.

Visual fields full to confrontation. Extraocular muscles intact. PERRLADC. Normal facial symmetry, sensation and movement. Tongue and uvula are midline. Normal auditory acuity. Normal shoulder shrug.

Jaylen resides with his father and his sister. He was described to have a speech disability and is receiving therapy at school, but is very active and knows his ABC’s. Also, described as a little weird, loner, smart, relaxed, seems to be

None noted Mobility: gait, use of assistive devices, ROM of joints, no involuntary movement Steady gait, no assistive devices, no involuntary movement Facial expression Symmetrical Mood and affect appears to be in good mood Speech: articulation, pattern, content and appropriate, native

He demonstrates poor grammar and low reading skills, he is able to do simple arithmetic calculations, can think abstractly, and can follow simple instructions. He is typically oriented to where she is at, whom she is with, and what time it is although he was slightly disoriented when we spoke about his friends and parents. No noticeable deficits in his ability to recall information from various points in time were observed. Overall, he shows the ability to think rationally and make good judgments in regards to decision making.

General: he is alert and oriented x4, happy, cooperative, a bit distracted while answering question. He is not making good eye contact during the interview; he looks back and forth to me and his parents. A.E. states he is in no pain, fever, weight changes or sleeping problems. C.E. states that he does have

Exam was 5/5 in the upper extremity and right lower extremity. She had 5-/5 of her left quadriceps. Tone was normal. Sensation was intact to primary modalities.

The only thing available to patients are treatments to try and slow down the process of muscle degradation. There are only two current types of treatments available for patients, drugs and physical therapy. The two most common types of drugs given are corticosteroids and heart medications. Corticosteroids can help increase muscle strength and slow progression, although their long-term use can weaken bones and increase weight gain. Now if the muscular dystrophy impacts the heart, beta blockers and angiotensin-converting enzyme (ACE) inhibitors may be useful. Now there are four different types of physical therapy that may help out, the first one is just general exercise because it helps keep the limbs limber and in motion for longer than if you weren’t to exercise. Now if your muscles weaken to the point where it becomes hard to breath, then a breathing assistant will be given to help ease the flow of air that you produce. When MD has reached its advanced stages, then braces and mobility aids are given to keep you moving and to stretch your muscles and tendons as to slow down the process of weakening muscles. (MNT) The two most effective ways of treating MD were the corticosteroids and also general exercise. Since the corticosteroids in the long run cause you to gain weight, the general exercise helps keep that in check along with keeping you active. Unfortunately with these treatments it does not stop MD from

Mitochondrial Neurogastrointestinal Encephalopathy disease (MNGIE) is an extremely rare disease that affects the process of muscles and shows up in equal numbers of men and women. Only 70 cases of this disease have been reported. A mutation of the thymidine phosphorylase causes MNGIE and lowers the production of adenosine triphosphate production.

Areas of particular severity on this test were his significant emotional responses, he tends to act out his feelings quickly. His mother reports that he is "super loud and expressive and has a large movements." He struggles at times with difficulty relating to other people.

In case study two the patient is diagnosed with mitochondrial disease. Mitochondrial disease can happen at many levels so a better understanding of what level the patient is at will help determine how to help the patient. Mitochondria are pretty much in total control of the amount of energy produced for the body to maintain life and to also help with growth. When the mitochondria do not work properly the cells get injured and eventually cell death may occur. If this occurs, many systems can fail. Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems (http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7934627/k.3711/What_is_Mitochondrial_Disease.htm). Without mitochondria the cells in our

is currently having difficulties with learning and behavior. frequently is out of his throughout the day, and answers aloud before being called on to give the answers and struggles to follow directions. also has learning difficulties in reading decoding and reading comprehension.