Sunday, April 26, 2009

Inflamatory Disease - Guillain-Barre Syndrome

Disease: Guillain-Barre Syndrome
Common Name:
Just an abbreviation. GBS
Age of Onset: The syndrome does not affect one age over another.
Duration: The syndrome lasts a few weeks to a few years depending on severity and treatment.
More Common in ...: It does not affect one group more than another.
Cause: The specific cause of GBS is unknown, but it is most common after the victim recovers from a viral disease. The body mistakes its own cells for diseased cells and proceeds to attack them. The myelin surrounding nerve cells is eaten away untill the nerve fiber is exposed. Typically vaccinations trigger the malicious autoimmune cells, but doctors have not been able to pin down the exact cause.
Symptoms: GBS is fisrt felt in the form of weakness in the lower limbs. This weakness travels upwards into the arms and facial muscles. The victim will be prone to collapsing and may feel numb all over. There could be a loss of bladder control and a loss of pain. Respiratory problems could occur if the syndrome is severe.
Prognosis: As previously stated, the disease first manifests as a feeling of weakness in the legs. The weakness travels upward in the following days until it reaches the head. The above symptoms can occur in the next weeks but the entire syndrome runs itself out in about one month unless other nervous problems already exist.
Treatment Options: There is no known cure but there are many therapies that could aid in the recovery of the victim and lessen the severity of the symptoms. The patient will receive a high dose of immunoglobin to combat the damaged autoimmune cells. The patient may need a respirator and/or a heart monitor to help with normal body functioning. The main goal is to wait out the disease until it goes away.
Sources: http://www.ninds.nih.gov/disorders/gbs/gbs.htm, http://en.wikipedia.org/wiki/Guillain-Barr%C3%A9_syndrome, http://www.mayoclinic.com/health/guillain-barre-syndrome/DS00413

Muscle Disease - Polymyositis

  • Disease Name: Polymyositis
  • Common Name: This is a very rare disease, there is no common name.
  • Age of Onset: Can happen at any time in life but mainly preys on people over the age of 40. The cause is unknown but may be related to autoimmune factors, genetics, and viruses.
  • Duration: There is no known cure, but there are many treatments that can lessen the disease's effects.
  • Common in...: The disease is more common in women and blacks.
  • Causes: As stated before, the exact cause is unknown. It is considered an inflammatory myopathy which are sometimes caused by infectious viruses. Myopathies are classified with cancer as they spread from a point. The body mistakes healthy cells for foreign bodies and begins to attack them. This triggers reproduction of the diseased cells and the inflamed cells spread.
  • Symptoms: Symptoms include progressive muscle weakness, difficulty swallowing, muscle tenderness, and fatigue. The muscles of the trunk are affected the most. The skin of the fingers and palms become thicker also.
  • Prognosis: The disease is first felt in fatigue and weakness. These symptoms get worse as the diseased muscle cells invade more of the organ. Eventually the above symptoms occur. The disease can go on to affect the cardiac, lung, joint, and gastrointestinal systems. The 5 year mortality rate is 20% mainly for heart failure. If you have this disease, it is important to start treatment early.
  • Treatment Options: Corticosteroids - this suppresses the immune system and the cells become less inflamed. The doctor will start with a high dose and decrease dosage as the symptoms become less severe. Physical Therapy - This improves muscle fitness and flexibility. This does not cure the disease but it will help on the road to recovery. Plasmapheresis - this is when you do a blood transfusion to take out the harmful autoimmune cells. Radiation - radiation to the lymph notes can help by decreasing the number of immune cells produced. There are many more experimental treatments out there.
  • Sources: http://www.mayoclinic.com/health/polymyositis/DS00334, http://en.wikipedia.org/wiki/Polymyositis, http://emedicine.medscape.com/article/756355-overview, http://www.medicinenet.com/polymyositis/article.htm

Thursday, December 25, 2008

Skeletal Disorder - Osteogenesis Imperfecta


  • Disease: Osteogenesis Imperfecta (OI)
  • Common Name: Brittle Bone Disease
  • Age of Onset: Present from conception as a gene abnormality.
  • Duration: There is no cure; the disease is present for the victim's entire life. There are some treatment options to make the disease more manageable. Fractures due to the disease decrease throughout one's life time.
  • Most Common in...: The gene defect is more common in people from Zimbabwe, Nigeria, and South Africa. The reason for this is unknown, but the defective gene is frequently passed down in these regions.
  • Cause: There are seven different types of OI. Each type has slightly different effects and is caused by a different gene defect. Types I-IV are caused by COL1A1 and/or COL1A2 genes. The defective gene is autosomal dominant. COL1A1 is found on chromosome 17 and COL1A2 is found on chromosome 7. One could use a Punnett square or have a clinical geneticist predict if a child will inherit the defective gene. The genes produce only half of the normal pro-alpha1(I) collagen chains made in the bones. This lack of type I collagen results in bone fragility and thus OI. OI types V-VII are more rare and will not be discussed here, but the basic concept is the same. A defective dominant gene is passed down that makes the victims bones brittle. This skeletal dissorder is usually hereditary, but there have been reported cases where the gene is newly mutated.
  • Symptoms: The following are symptoms that may been seen in most types of OI: multiple fractures, blue or gray whiteness of the eyes, demineralized bone at the site of a previous fracture (appears darker than normal bones on X-rays), wormian bones (extra small bones found in the sutures in the skull), weak bone density, defective collagen producing genes (as shown through culturing skin cells or examining blood). Specifically, type I, has spine curvature, loose joints, poor muscle tone, loss of hearing in children, protruding eyes. Type II has respiratory problems, small stature, and infants with it usually die in the first year of life to lung failure. Type III has bone deformities, respiratory problems, short stature, and the symptoms of type I. Type IV has barrel shaped rib cage, bone deformity, and early hearing loss. These symptoms may all be present, or very few may be present. The most obvious sign is repeated bone fractures due to the weak and deformed bone growth.
  • Prognosis: The disease is present from conception. At birth and in early childhood, the above symptoms may be present. The may fall victim to several fractures as a result of poor bone density. As the person ages, more treatment options become available. The disease can be managed to where the victim can live a mostly normal life. He or she will be asked to refrain from highly physical sports like football and soccer, and may have to keep a therapy regiment for the majority of his or her life. Women with OI have an increase in bone fractures later in life as they lose bone during menopause. They can do hormone replacement therapy to reverse this problem. Smoking can take out another 5 percent of a person's bone; so it is very important not to smoke if you have OI.
  • Treatment Options: There is no cure for OI. Treatment is meant to increase bone density to reduce the number of fractures a person will have. Fosamax and Pamidronate have been approved to help build bone density. Physiotherapy is used to slowly strengthen one's muscles in an attempt to take some of the stress off of the bones. It is also used to improve one's posture to help proper bone formation. This is hard to administer to children because they will shy away from any movement that will cause pain. Biophosphonates such as alendronate or pamidronate are used to directly increase bone mass. Surgery can be used to insert bone or metal rods to correct bone posture, which could help with the pain of OI. All in all, most of the treatment options for OI are painful techniques to help ease this painful disease. The problems never go away, but the symptoms can be reduced.
  • Sources: http://en.wikipedia.org/wiki/Osteogenesis_imperfecta, http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html, http://www.netdoctor.co.uk/diseases/facts/brittlebones.htm

Tuesday, October 28, 2008

Skin Disorder - Harlequin Ichthyosis






Proper Name: Harlequin Ichthyosis


Common Name: Harlequin Baby Syndrome; HI


Age of Onset: HI is an inherited disorder which affects the person from birth.


Duration: To this date there is no known cure for HI. However, some individuals have survived into their 20s with the disease.


Most Common in: Both sexes and all ethnicities are equally likely to inherit this disease.


Cause: This rare disease only occurs when both parents have a defective ABCA12 gene. The gene controls the transport of lipids to the epidermis. The defective gene does not produce - or produces a smaller version of - the ABCA12 protein that carries the lipids. This disrupts the development of the epidermis, resulting in large scales that cover the body. Also, the eyes, ears, lips and nose may be abnormally contracted and movement in the arms and legs may be restricted.


Symptoms:

Premature birth
Extreme skin deformity (hard, scaly, cracked, red skin)
Contracted eyes, ears, lips, and nose
Unusual numbers of fingers and toes
Limited respiration as the chest wall is constricted
Difficulty swallowing
Dehydration (and edema)
Excessive hair growth and loss


Prognosis: Disease once was fatal to all infants. Now one can live with the disease into adolescence and adulthood. However, there is no none cure for HI. Victims usually die of dehydration, infection, or suffocation.


Treatment Options (Rx): There is no cure, but people have had success in keeping HI in check by bathing for multiple hours each day in an attempt to keep the skin moist. Others have had success by using Isotretinoin (Accutane), using massive amounts of lotion, and by taking a feeding tube of pure protein.

Links:

http://ghr.nlm.nih.gov/condition=harlequinichthyosis

http://www.wrongdiagnosis.com/h/harlequin_type_ichthyosis/symptoms.htm#symptom_list

http://www.mymultiplesclerosis.co.uk/misc/harlequin.html