Case Study: The Kennedy Disease

Unit 6 Assessment Criteria 1.1 Explain the sequence and rate of development from birth to 19 years. Physical Development: Gross motor control: 0 – 3 years 1 month: Head droops if unsupported Pulled to sit, head lags Lies with head to one side Large jerky movements of limbs Arms active Turns head from cheek to cheek when on tummy Lifts head momentarily when on tummy Lifts head (bobbing) when held in vertical at shoulder Kicks legs rhythmically 2-3 cycles when on back Looks at faces and objects 3 mths. Head held erect for a few moments before falling forward Pulled to sit, a little head lag Lies with head in midline Movements smoother and continuous Kicks vigorously,

the root of the problem seems to be, (b) a diagnosis of the disorder (drawing on your knowledge of material from

     Recent studies show that this syndrome may be associated with changing craniofacial and skeletal muscle metabolism, such as blood flow, which causes the chronic fatigue and severe weakness. Another hypothesis is that an infectious trauma to the body, such as a virus, triggers the illness. However, with this syndrome being new, no specific virus has been identified. There is though a plot study that shows that there is possible inherited tendency toward the disease. This disease/syndrome has increased

Imagine how it would be like if you can’t run and have to be in a wheelchair at a young age. You would face lot’s of difficulties like having to get up and walking. A rare disease called Duchenne Muscular Dystrophy can do this to you. Duchenne is a disease with rapidly worsening muscle weakness. It is not very well know. Boys are more likely to have it them girls because boys don’t inherit a flawed dystrophin gene. This gene protects you from Duchenne.

The main medical issues, in this case, are right arm and leg weakness along with speech and word-finding difficulties.

Stevens-Johnson Syndrome is extremely rare, affecting between 2.6 to 7.1 people per million each year. The disorder can affect anyone, however, studies show that SJS is twice more common in females, more common in caucasians, and elderly people as they are more likely to use the medications that cause it. The condition is 100 times more likely to occur in people who are HIV-positive and those with systemic lupus erythematosus,

They may develop alone or in combination, but as the disease progresses, all are usually present. There is no true paralysis. The symptoms are always bilateral but usually involve one side early in the illness. Because the onset is insidious, the beginning of symptoms is difficult to document. Early in the disease, reflex status, sensory status, and mental status usually are normal. Postural abnormalities (flexed, forward leaning), difficulty walking, and weakness develop. Speech may be slurred. Autonomic-neuroendocrine symptoms include inappropriate diaphoresis, orthostatic hypotension, drooling, gastric retention, constipation, and urinary retention. Depression is also prevalent.

Adults that have this disorder are not allowed to relax their muscles after they contract. This disorder affecting men and women symptoms show when people are in their twenties.

It affects the nerves that control the heart, regulate blood pressure, and control blood glucose levels (Callaghan, 2012). Autonomic neuropathy interferes with the body's ability to adjust blood pressure and heart rate, resulting in blood pressure to drop sharply after sitting or standing, causing light-headed or even to fainting. Damage to the nerves that control heart rate can mean that the heart rate stays high, instead of rising and falling in response to normal body functions and physical activity. Nerve damage to the digestive system commonly causes constipation, causing the stomach to empty too slowly (Callaghan, 2012). This can lead to persistent nausea and vomiting, bloating, and loss of appetite, making blood glucose levels fluctuate widely, due to abnormal food digestion. Nerve damage to the esophagus makes swallowing difficult, while nerve damage to the bowels can cause constipation alternating with frequent, uncontrolled diarrhea (Callaghan, 2012). Autonomic neuropathy often affects the control of urination, which can prevent the bladder from emptying completely, allowing bacteria to grow in the bladder and kidneys and causing urinary tract infections. Urinary incontinence may result due to not being able to sense when the bladder is full or control the muscles that release urine. It can also gradually decrease sexual response in both

Many people affected by Klinefelter syndrome are at high risk of many different health issues, but if these risks can be reduced if signs are caught and treated early. High risk autoimmune disorders, which are disorders in which the immune cells attack the body, include rheumatoid arthritis, hypothyroidisms, lupus, and type 1 diabetes. High risk venous diseases include varicose veins, deep vein thrombosis, and pulmonary embolisms. Since affected males have such a high risk of these venous diseases, they should pay close attention to their weight, follow an adequate diet, avoid smoking, and exercise regularly. Tooth decay is a problem with Klinefelter-affected males since they usually have taurodontism, which is when teeth have shorter roots,

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

Therapy on the functional side, related to movement, I got to see strategies used for

Women can be carriers of KS without knowing it and easily be the reason her son would have Klinefelter syndrome. Being a carrier means that the person does not show any effects or symptoms from the disease however still carries it around. Many people do not know that are carriers of certain diseases and will only know if their offspring has that disease. Klinefelter syndrome will have no effect on the woman carrying it however if it was a male with KS, the symptoms will clearly

Malfunctioning Motor Skills – Incapable of body movement. Mutism. Body clenched in a stiff position. No awareness of environment.

DCD may coincide with delays in one or more of the following areas: gross motor skills, fine motor skills, and speech production (Gaines & Missiuna, 2007). Gross motor deficits may involve problems with balance, coordination, muscle strength, reaction times, and the ability to distinguish left from right. In addition, recent research suggests an association between CDC and left- or mixed- handedness (Vasconcelos, 2009). Fine motor deficits may be associated with problems using writing implements, problems using scissors, and problems performing a variety of adaptive tasks, such as feeding, dressing, and toileting (Trawick-Smith, 2010). Finally, speech production may pertain to complications during articulation, breathing, and the utilization of grammatical structures (Carlson, 2007).