Thursday, September 29, 2011

Raynaud's Disease

Raynaud’s disease is a condition that causes some areas of your body such as your fingers, toes, tip of your nose and your ears; to feel numb and cool in response to cold temperatures or stress.  The blood vessels constrict and the blood supply to certain areas is reduced and causes an attack or episode.  This results in several skin color changes which are often accompanied by a burning or throbbing sensation.  There is no exact cause of Raynaud’s disease but there is research that is being determined it, the episodes are usually triggered by cold weather or by touching cold objects.  This disease occurs more frequently in women than in men but it may occur at any age usually between the ages of 15 and 40.  Raynaud’s disease is divided into two categories, primary and secondary. Primary occurs when an individual has the color changes along with typical symptoms of pain or numbness.  Secondary occurs when the episodes are related to another medical condition which is causing the attacks.  Raynaud’s disease is diagnosed if the episodes occur periodically for at least two years, if there is no other identifiable cause, if the attacks occur in both hands, or if the two of the three color changes occur during attacks which are provoked by cold or stress.  There is no cure for this condition although most of the episodes can be controlled with proper medicine care.


Wednesday, September 21, 2011

Dancing eyes-dancing feet syndrome

Dancing eyes-dancing feet syndrome, it sounds extremely unusual but that’s the point most people do not know what it is.  It is also known as opsoclonus myoclonus syndrome which is a rare movement disorder characterized by associated ocular (eye), behavioral, sleep, and language disturbances.  “The syndrome is characterized by the sudden onset of brief, repeated, shock-like spasms of muscles within the arms, legs or entire body, an impaired ability to control voluntary movement and involuntary, rapid movements in both horizontal and vertical directions.”  In cases where there is a tumor present, treatment such as chemotherapy, surgery, or radiation may be required.  Relaspses are common and may occur without warning.  The causes of Dancing Eyes-Dancing Feet syndrome are viral infections, tumor in skull, cerebrospinal fluid or Hydrocephalus.  Currently there are no clinically investigations available to diagnose this syndrome.        

Thursday, September 8, 2011

Gardner Syndrome

      “A disease is rare if fewer than 200,000 people in the United States have it. There are close to 7,000 rare diseases and about 25 million people in the U.S. have one. Many rare diseases are caused by changes in genes and are called genetic diseases.”
       Gardner Syndrome is classified as a “rare diseases” according to Genetic And Rare Disease Information Center (GARD).  This syndrome is characterized by extra teeth, multiple growths in the colon, fatty cysts in the skin, and bony tumors of the skull.  Gardner syndrome is inherited as an autosomal dominant trait, which means that one copy of the altered gene in each cell is able to cause the disorder.  Most cases however, an affected person has the condition. There is genetic testing available for the disorder which can be used to clarify the genetic status of at-risk family members when a relative has undergone molecular genetic testing and has been found to have the mutation.  At this very time this is no cure for Gardner syndrome and in some of its more advanced forms; it is considered a terminal diagnosis with a life expectancy of 35-45 years.