Friday, April 24, 2009

Muscular System - Duchenne muscular dystrophy


Disease/Disorder: Duchenne muscular dystrophy

Common Name: DMD

Age of Onset: DMD can be detected at birth, but is mmost often detected in patients at 3-7 years by the development of lordosis, a waddling gait, and the Gowers sign. About 1-2 years after these symptoms appear, Calf pseudohypertrophy appears and most patients are wheelchair bound by age 12 years.

Duration: This is a chronic coundition, so a person with DMD will have it for their whole life

Commonness: DMD afflicts 1 in 3300 boys with an overall prevalence of 63 cases per million, making it the most prevalent

Cause: One third of the cases of DMD are due to spontaneous mutations, while the rest are inherited in an X-linked dominant manner.

Symptoms:


  • lordosis

  • wide gait

  • toe walking

  • gowers sign (pushing on the knees to stand due to leg muscle weakness)

  • calf enlargement (with fatty tissue or degenerated muscle

  • progressive weakness starting in the lower limbs and moving up through the body
Prognosis: DMD is a progressive muscle degenerative disease where the muscle tissue is replaced by adipose tissue or other connective tissues. The transformation begins wasting away the muscles in the legs and pelvis before it spreads to the sholders and neck. Patients with this condition have limited moter skills and must be confined to a wheel chair early in life. This disease opens patients to a number of health difficulties. Skeletal muscle weakness can lead to cardiopulmonary complications, and Scoliosis can develop, imparing pulmonary or gastrointestinal function

Sources: Web MD

Neurological - Autism


Disease/Disorder: Autism

Common Name: Autism

Age of Onset: Autism is present at birth and sympoms of the coundition are typically evident before the child reaches the age of three

Duration: Autism is chronic, so a person with Autism has no cure and must live with the disease their whole life

Commonness: Autism affects an estimated 10 to 20 of every 10,000 people. It is about 4 times more common in boys as in girls

Cause: The cause of Autism is not fully known, but scientists believe the coundition to be caused genetics, certain types of infections, and other problems occurring at birth

Symptoms:
  • Inability to participate in a conversationDifficulty with non-verbal communication (gestures and facial expressions)
  • Difficulty with verbal communication (problems using and understanding language)
  • Difficulty with social interaction (relating to people and to his or her surroundings)
  • Inability to make friends and preferring to play alone
  • Unusual ways of playing with toys (as only lining them up a certain way)
  • Preoccupation with unusual objects or parts of objects
  • Repetitive body movements, or patterns of behavior
  • Lack of imagination


Prognosis: Autistic patients have problems with social interaction, imagination, and communication. Autistic children have a limited range of interests, and almost 75% have mental retardation. In many cases, autistics children are unable to form emotional bonds with their parents or other family members.
Sources:

WebMD