Wednesday, April 29, 2009

Isaac's Syndrome

Disease: Isaac's Syndrome

Common Name: Isaac's Syndrome, neuromyotonia, Isaac-Mertens syndrome, continuous muscle fiber activity syndrome, or quantal squander syndrome

Age of Onset: Onset is between ages 15 and 60, with most individuals experiencing symptoms before age 40

Duration: chronic once acquired

Does not have a commonality between males/females or ethnic group

Cause: Isaac's Syndrome can be hereditary as well as being acquired but has unknown causes. The acquired form occasionally develops together with peripheral neuropathies or after radiation treatment, but it is more often caused by an autoimmune condition. Autoimmune-mediated Isaac's syndrome is usually caused by antibodies that bind to potassium channels on the motor nerve. Isaac's syndrome is only one of several neurological conditions that can be caused by potassium channel antibodies.

Symptoms and Prognosis: progressive muscle stiffness, continuously contracting or twitching muscles, cramping, increased sweating, and delayed muscle relaxation, occur even during sleep or when individuals are under general anesthesia. Many people also develop weakened reflexes and muscle pain, but numbness is relatively uncommon. In most people with Isaac's syndrome, stiffness is most prominent in limb and trunk muscles, although symptoms can be limited to cranial muscles. Speech and breathing may be affected if pharyngeal or laryngeal muscles are involved. There is no cure for Isaac's syndrome. The long-term prognosis for individuals with the disorder is uncertain.

Treatment Options: Anticonvulsants, including phenytoin and carbamazepine, usually provide significant relief from the stiffness, muscle spasms, and pain associated with Isaac's syndrome. Plasma exchange may provide short-term relief for individuals with some forms of the acquired disorder.

Reasearch Being Done: The NINDS supports an extensive research program of basic studies to increase understanding of diseases that affect the brain, spinal cord, muscles, and nerves. This research examines the genetics, symptoms, progression, and psychological and behavioral impact of diseases, with the goal of improving ways to diagnose, treat, and, ultimately, cure these disorders.





Monday, April 27, 2009

Parkinson's Disease

Disease: Parkinson's Disease

Common Name: Parkinson's Disease

Age of Onset: no specific age of onset. can occur at any age

Duration: once you have been diagnosed with the disease it is with you forever

Cause: Most people with Parkinson's disease are described as having idiopathic Parkinson's disease which means having no specific known cause. A small minority of people who have Parkinson's have acquired it through genetics. There is also the theory that, the combination of genetic vulnerability and the exposure to certain toxins can be the cause of the disease. These toxins include, but are not limited to chemicals present in certain pesticides and transition metals such as manganese or iron and certain reactive oxygen species that bind to neuromelanin. There was also a group of drug addicts in California in the early 1980s who consumed a contaminated and illicitly produced batch of the synthetic opiate MPPP brought to light MPTP (pro-toxin N-methyl-4-phenyl-1,2,3,6-tetrahydropyidine) as a specific cause of Parkinson symptoms. There was also a study that showed that those who have experienced a head injury are four times more likely to develop Parkinson’s disease than those who have never suffered a head injury.

Symptoms: Motor Symptoms
  • Tremor: normally 4–6 Hz tremor, maximal when the limb is at rest, and decreased with voluntary movement. This is the most apparent and well-known symptom, though only about 30% of patients have little perceptible tremor; these are classified as akinetic-rigid.
  • Rigidity: stiffness; increased muscle tone.
  • absence of movement and slowness, respectively. Rapid, repetitive movements produce a dysrhythimic and decremental loss of amplitude
  • Postural instability: failure of postural refliexes which leads to impaired balance and falls.
  • Gait and posture disturbances:
    • Shuffling: gait is characterized by short steps, with feet barely leaving the ground,
    • Decreased arm-swing.
    • Stooped, forward-flexed posture. In severe forms, the head and upper shoulders may be bent at a right angle relative to the trunk (camptocormia).
    • Festination: a combination of stooped posture, imbalance, and short steps.
    • Gait freezing: "freezing" is a manifestation of akinesia (an inability to move). Gait freezing is characterized by an inability to move the feet which may worsen in tight, cluttered spaces or when attempting to initiate gait.
  • Speech and swallowing disturbances.
    • Hypophonia: soft speech. Speech quality tends to be soft, hoarse, and monotonous. Some people with Parkinson's disease claim that their tongue is "heavy"
    • Festinating speech: excessively rapid, soft, poorly-intelligible speech.
    • Drooling: most likely caused by a weak, infrequent swallow and stooped posture.
  • Fatigue (up to 50% of cases);
    • Masked faces with infrequent blinking
    • Difficulty rolling in bed or rising from a seated position;
    • Akathisia, the inability to sit still.
Progression: there is no specific order of the progression of symptoms for Parkinson's disease. in the beginning your motor skills begin to deteriotate and degenerate and then everything seems to go downhill from there

Treatment Options: There is no cure for Parkinson’s disease; however, there are several medications available to treat the symptoms of the disease. there is Levodopa/Carbidopa (Sinemet), Dopamine agonists, Monoamine oxidase inhibitors. there is also the option of surgery but that is only to help with the symptoms. the only other help for the disease is physical therapy, excersize, and group wellness meetings.





Tuesday, December 30, 2008

Scoliosis




Scoliosis

Scoliosis can be caused to happen at any age of any person and at any time. When a child is born with it at birth it is called congenital when is caused by vertebral anomalies. It could also develop as a juvenile, adolescent, or adult according to when onset occurred or by having having developed as a secondary symptom of another condition, such cerebral palsy, spinal muscular atrophyor due to physical trauma. Scoliotic curves greater than 10° affect 2-3% of the population of the United States. The prevalence of curves less than 20° is about equal in males and females. Curves that are greater than 20° affect about one in 2500 people. Curves convex to the right are more common than those to the left, and single or "C" curves are slightly more common than double or "S" curve patterns. Males are more likely to have infantile or juvenile scoliosis, but there is a high female predominance of adolescent scoliosis.
The condition can of the persons spine can be categorized based on convexity, or curvature of the spinal column, with relation to the central axis:
  • Dextroscoliosis is a scoliosis with the convexity on the right side.
  • Levoscoliosis is a scoliosis with the convexity on the left side.
  • Rotoscoliosis (may be used in conjunction with dextroscoliosis and levoscoliosis, e.g. levorotoscoliosis) refers to scoliosis on which the rotation of the vertebrae is particularly pronounced, or is used simply to draw attention to the fact that scoliosis is a complex 3 dimensional problem.
It is most commonly not very easy to find a clear cause to scoliosis. Various causes have been discovered, but none has consensus among scientists as the cause of scoliosis. Scoliosis is more often diagnosed in females and is often seen in patients with cerebral palsy or spina bifita, although this form of scoliosis is different from that seen in children without these conditions. In some cases, scoliosis exists at birth due to a consgenital vertebral anomaly. Occasionally, development of scoliosis during adolescence is due to an underlying anomaly such as a tethered spinal cord, but most often the cause is unknown or idiopathic. In April 2007, researchers at Texas Scottish Rite Hospital for Children identified the first gene associated with idiopathic scoliosis, CHD7, which was a huge medical breakthrough and was the result of as 10-year study.

The signs of scolioses are often very obvious unless it is very discrete. Pain is often common in adulthood, especially if the scoliosis is left untreated. Scoliosis surgery is often performed for cosmetic reasons rather than pain alone as the surgery cannot guarantee pain loss but it can stabilize a curvature and prevent worsening therefore improving one's quality of life. Pain can occur because the muscles try to conform to the way the spine is curving often resulting in muscle spasms. The symptoms of scoliosis can include:

  • Uneven musculature on one side of the spine
  • A rib "hump" and/or a prominent shoulder blade, caused by rotation of the ribcage in thoracic scoliosis
  • Uneven hip, rib cage, and shoulder levels
  • Assymetric size or location of breast in females
  • Unequal distance between arms and body
  • Slow nerve action (in some cases)
Getting examined for scoliosis is very simple. They occasional have examinations at school so they can test everybody in the school and fix it early if you are diagnosed. You are examined by bending over forwards and your spine is looked at for a hump. The prognosis of scoliosis depends on the likelihood of progression. The general rules of progression are that larger curves carry a higher risk of progression than smaller curves, and that thoracic and double primary curves carry a higher risk of progression than single lumbar or thoracolumbar curves. In addition, patients who have not yet reached skeletal maturity have a higher likelihood of progression. You can go one of two routes, either a brace, or undergo surgery. When you wear the brace, it is worn almost permanately but can be removed and is worn until the abnormal curvature to the spine is fixed and back to normal. Surgery is usually indicated for curves that have a high likelihood of progression, curves that cause a significant amount of pain with some regularity, curves that would be cosmetically unacceptable as an adult, curves in patients with spina bifida and cerebral palsy that interfere with sitting and care, and curves that affect physiological functions such as breathing.


http://www.medicinenet.com/scoliosis/article.htm

http://www.mayoclinic.com/health/scoliosis/DS00194

http://en.wikipedia.org/wiki/Scoliosis

Wednesday, October 22, 2008

Chickenpox


chickenpox_illustration

Proper Name: Varicella

Common Name: Chickenpox


Age of Onset: Chickenpox is a common childhood skin disease that is caused by a virus called the varicella-zoster virus (VZV). Most people get chickenpox by age 15, the majority being between ages 5 and 9, but all ages can get it. Chickenpox is usually more severe in adults and very young infants than children. A person usually has only one episode of chickenpox, but VZV can lie dormant within the body and cause a different type of skin eruption later in life called shingles (or herpes zoster).


Duration: Chickenpox may start out seeming like a cold. 1 to 2 days later, the rash begins, often in bunches of spots on the chest and face. From there it can spread out quickly over the entire body. The number of pox ranges for different people, some get just a few bumps; others are covered from head to toe. At first, the rash looks like pinkish dots that quickly develop a small blister on top. After about 24 to 48 hours, the fluid in the blisters gets cloudy and the blisters begin to crust over. Chickenpox blisters show up in waves, so after some begin to crust over, a new group of spots may appear. New chickenpox usually stop appearing by the seventh day, though they may stop as early as the third day. It usually takes 10–14 days for all the blisters to be scabbed over and then you are no longer contagious. Winter and spring are the most common times of the year for chickenpox to occur.


Males/Females/Equal: males and females are equally susceptible


Cause: Chickenpox is contagious. Someone who has chickenpox is most contagious during the first 2 to 5 days that he or she is sick. That's usually about 1 to 2 days before the rash shows up. So you could be spreading around chickenpox without even knowing it. A person who has chickenpox can pass it to someone else by coughing or sneezing. When he or she coughs, sneezes, laughs, and even talks, tiny drops come out of the mouth and nose. These drops are full of the chickenpox virus. So once these drops are out, they are susceptible to anybody that comes in contact with them or happens to breathe them in.


Symptoms & Prognosis: Chickenpox causes a red, itchy rash on the skin that usually appears first on the chest or back and face, and then spreads to almost everywhere else on the body, including the scalp, mouth, nose, ears, and genitals. The rash begins as multiple small, red bumps that look like pimples or insect bites. They develop into thin-walled blisters filled with clear fluid, which becomes cloudy. The blister wall breaks, leaving open sores, which finally crust over to become dry, brown scabs. Chickenpox blisters are usually less than a quarter of an inch wide, have a reddish base, and appear over 2 to 4 days.

Some kids have a fever, chest pain, sore throat, headache, or a vague sick feeling a day or 2 before the rash appears. These symptoms may last for a few days, and fever stays in the range of 100°–102°. Younger kids often have milder symptoms and fewer blisters than older children or adults. Chickenpox has a 10-21 day incubation period. Following primary infection there is usually lifelong protective immunity from further episodes of chickenpox.

Typically, chickenpox is not a serious illness, but can affect some infants, teens, adults, and people with weak immune systems more severely. Some people can develop serious bacterial infections involving the skin, lungs, bones, joints, and the brain. Anyone who has had chickenpox (or the chickenpox vaccine) as a child is at risk for developing shingles later in life, and up to 20% do. After an infection, VZV can remain inactive in nerve cells near the spinal cord and reactivate later as shingles, which can cause tingling, itching, or pain followed by a rash with red bumps and blisters.


Treatment Options: A vaccine to protect children against chickenpox was first licensed in March 1995. It has been recommended for persons over 12 months of age to help prevent attaining the disease later in life.

Since it is a virus that causes chickenpox, the doctor will not prescribe antibiotics. However, antibiotics may be required if the sores become infected by bacteria. This is pretty common among kids because they often scratch and pick at the blisters. The antiviral medicine acyclovir may be prescribed for people with chickenpox who are at risk for complications. The drug, which can make the infection less severe, must be given within the first 24 hours after the rash appears.



http://kidshealth.org/parent/infections/skin/chicken_pox.html

http://www.emedicinehealth.com/chickenpox/article_em.htm

http://www.health.state.ny.us/diseases/communicable/chickenpox/fact_sheet.htm