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