Thursday, April 23, 2009

Amyotrophic Lateral Sclerosis


Disease: Amyotrophic Lateral Sclerosis (ALS)


Common Name: Lou Gehrig's Disease


Age of Onset: generally between 40 and 70 years old, but it can also occur at younger ages


Duration: Throughout the patient's lifetime

Males/Females/Equal: The disease affects both males and females, but is more prevalent in males.


Cause: There is no known cause for ALS, but it can occur randomly or be inherited. Possible causes being researched include autoimmune response, a mutation to a gene on the 21st chromosome, and high levels of glutamate.

Symptoms:


  • muscle twitching, cramping, and stiffness

  • loss of motor control in hands and arms, loss of normal dexterity

  • impaired use of arms and legs

  • slurred or slowed speech

  • difficulty chewing or swallowing

  • difficulty walking/running, increased tendency to stumble

  • fatigue

  • difficulty breathing

Prognosis: The disease preogressively worsens until death. As muscles weaken and atrophy, patients eventually lose ability to stand, walk, or use their hands or arms. Because of difficulty eating, maintenance of weight becomes difficult. Anxiety or depression problems may develop. Muscles in the diaphragm and chest wall eventually fail, making a ventilator necessary for breathing. Patients usually die within 3-5 years of the beginning of symptoms, while some live over 10 years.


Treatment Options:

  • physical, occupational, nutritional, speech, and respiratory therapies
  • There is no proven treatment, but drugs such as Rilutek have been approved by the FDA and prolong the survival of people living with ALS.

http://www.umm.edu/nervous/als.htm

Wednesday, April 22, 2009

Congenital Muscular Dystrophy (CMD)




Disease: Congenital Muscular Dystrophy
Common Name: CMD
Age of Onset: Symptoms can be noted at birth or during the first year of life
Duration: lifetime
Males/Females/Both: It is an autosomal recessive, so it affects both males and females equally.
Causes:
  • inherited gene defects or mutations affecting proteins required by muscles and/or eyes and brain
  • malfunction or deficiency of merosin protein
  • spontaneous newly developed mutations

Symptoms:

  • muscle weakness
  • joint stiffness or looseness
  • spinal curvature
  • respiratory problems
  • mental retardation/ learning disabilities
  • eye defects
  • seizures
  • lack of muscle tone

Prognosis/Progression: Disease progressively worsens over time, and can lead to increased mental disability. Depending on the type of CMD, some die as infants, while some live until adulthood with minimal disability. Death sometimes occurs between 10 and 30 years of age due to respiratory failure.

Treatment Options: There is no specific treatment for CMD.

  • prevention and correction of skeletal abnormalities
  • stretching, bracing, orthopedic procedures such as spinal fusion
  • respiratory therapies to treat respiratory insufficiency
  • orthopedic surgery to prevent contractures and scoliosis

http://emedicine.medscape.com/article/1180214-overview

http://www.mda.org/disease/cmd.html

Monday, January 5, 2009

Osgood-Schlatter Disease





Disease: Tibial Tuberosity Apophysitis


Common Name: Osgood-Schlatter Disease


Age of Onset: Boys ages 13-14, Girls ages 10-11




Duration: Usually between 12 and 18 months, during a growth spurt.



Males/Females/Equal: Osgood-Schlatter disease affects boys more often than girls, but it is becoming more common with the increase in female athletes.



Cause: Osgood-Schlatter disease is an overuse injury. It occurs due to exercise when young athletes are going through a period of growth. Frequent use and physical stress cause pain and swelling at the point below the kneecap where the patellar tendon attaches to the tibia. The stress of the tendon pulling on the tibia often causes tiny fractures of the tibia.

Symptoms:

  • Pain and tenderness below kneecap

  • Swelling, large bump below kneecap


  • Pain and discomfort during physical activity such as running and jumping


  • Limping after physical ativity


Prognosis/Progression: Disease occurs during growth spurts during adolescence. Symptoms generally occur for around one to two years and the disease usually ends on its own after the growth spurt has ended. The disease will end sooner if physical activity is decreased.



Treatment Options:

  • Decrease in physical activity such as running or jumping, though children may still participate in sports.

  • Stretching exercises including quadricep and hamstring exercises to keep the area strong.


  • Icing the affected area after physical activity to reduce pain and swelling.

  • Anti-inflammatory medications such as ibuprofen.


  • Knee bands to help reduce stress and pain during physical activity.







http://kidshealth.org/teen/food_fitness/sports/osgood.html



http://pediatrics.about.com/cs/orthopedics/a/osgoodschlatter.htm

Wednesday, October 22, 2008

Lyme Disease



Proper Name: Borrelia Burgdorferi (in the United States)

Common Name: Lyme Disease

Age of Onset: It can occur at any age.

Duration: With antibiotic treatment, the rash typically lasts for one to two weeks.

Males/Females/Equal: Males and females are equally likely to get lyme disease.

Cause: The bacterial illness lyme disease is caused by a bacterium called a "spirochete." Ticks that live on deer and other animals store the bacteria in their stomachs. When these ticks bite the skin, the bacteria is released, causing lyme disease.

Symptoms:

  • redness/rash
  • headache
  • swollen glands
  • fatigue
  • muscle stiffness
  • joint stiffness

Prognosis (progression of the disease):

  • There are 3 phases of lyme disease.
    1. Early Localized disease: Within the first few days of the bite, the skin around the bite will be surrounded by an unraised ring of redness that will continue to expand. The red rash is often accompanied by virus symptoms such as fatigue, headache, muscle and joint stiffness, and swollen glands.
    2. Early Disseminated disease: Weeks to months after the initial rash, the bacteria spread throughout the body and heart, joint, and nerve damage can occur. The bacteria enter and can cause inflammation of the heart, leading to an abnormal heart rhythm and heart failure.
    3. Late disease: If the disease reaches peripheral nerves, Bell's Palsy- facial muscle paralysis- can occur, along with meningitis and inflammation of joints (arthritis).

Treatment Options (Rx): Lyme disease can be treated in the early phases by oral medications such as doxycycline, amoxicillin, or cefuroxime axetil. Nervous system disease may require drugs such as ceftriaxone. Swollen joints can be reduced by cortisone shots or medications such as ibuprofin or motrin.

http://www.medicinenet.com/lyme_disease/page3.htm