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

Sunday, December 21, 2008

Skeletal System - Achondroplasia


Disease/Disorder: Achondroplasia dwarfism

Common Name: Achondroplasia

Age of Onset: Achondroplasia is present at birth

Duration: It is a chronic condition, meaning a person with this disease has it for life

Commonness: Achondroplasia affects about 1 in every 40,000 children and approximately 10,000 individuals in the United States are estimated to have Achondroplasia. Because of the cause being a gene mutation passed on or inherited, it occurs equally in all races and both genders.
Cause: Achondroplasia is present at birth and is caused by gene mutations on the short arm of the forth chromosome. The mutations can be spontaneous without either parents having the condition, called or can be inherited as an autosomal dominant trait. This means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the child has a 50% chance of inheriting the disorder but if both parents have the condition, the child has a 75% chance of inheriting it.

Symptoms: The common symptoms if the disease are visible at birth and include
  • abnormal hand appearance with space between the fingers

  • bowed legs
  • decreased muscle tone

  • disproportionately large head

  • prominent forehead
  • shortened arm and legs
  • short stature

  • spinal stenosis(narrowing)
  • lordosis
  • kyphosis
Prognosis: The disease is a disorder of bone growth, as the name means "without cartilage formation." This disorder affects the ossification of cartilage into bone, which is especially important in the growth of long bones. This limited growing of the long bones affect the length of the limbs giving people with Achondroplasia their short stature. Because Achondroplasia affects muscle tone, individuals with the disease have postponed gross motor control. They may also have speech and language problems. Another serious side of the conditions is hydrocephalus, an abnormal accumulation of cerebrospinal fluid on the brain. Hearing loss occurs in 75% of Achondroplasia cases before the age of five. This is because abnormal temporal bone development causes the Eustachian tubes to drain poorly. People with Achondroplasia must receive close monitoring on their pulmonary functions and their respiratory system, because complications in these areas are often fatal.

Treatment: There are no treatments of the disease itself, but rather a treatment of the diseases symptoms. Hydrocephalus can be treated by draining the access fluid to prevent memory loss, seizures, hypersensitivities to light and sound, and pain. Surgery or other non-surgical treatments may be used to correct the spinal abnormalities of lordosis and kyphosis. Several methods, both surgical and non-surgical can be used to widen the often too small foramen magnum will help prevent neurological problems.

Prevention: Since the disease is a gene mutation which can occur at random or be passed from parent to child, Achondroplasia most often develops spontaneously,and so prevention is not always possible.
OtherPictures: Pic1 Pic2 Pic3

Thursday, October 23, 2008

Integumentary system - Impetigo

Disease/Disorder: Impetigo

Common Name: Impetigo

Age of Onset: Can be onset at any age

Duration: After treatment of antibiotics has begun the infection will begin to clear up in about 3 days.

Commonness: There is not one gender that develops Impetigo more frequently than the other, but young children develop the infection far more often than older children or adults.

Cause: Impetigo is an infection caused by either staphylococcus bacteria or streptococcus bacteria. The bacteria often enters the body where the skin has been compromised due to poison ivy, insect bites, chickenpox, burns, cuts, or eczema.

Symptoms: Impetigo is manifest in red sores that can break open, ooze fluid, and develop a yellow-brown crust. While these sores can occur anywhere on the body, they most often appear around the mouth and nose. A way to identify sores as being infected with Impetigo is if they increase in number or size and itch.


Prognosis: The infections begins as an inflamed spot, usually around the nose or mouth, which develpos into a fluid filled blister. The blister will break and leak fluid that becomes a brown to red colored crust over that affected area. This sore will often grow out from the edges or spread to other body parts by the patient touching or scratching the sore.

Treatment: The treatment for Impetigo is to kill the bacteria with antibiotics. For mild cases the antibiotics will be topical creams aplied directly to the infection, but in more severe infections oral antibiotics are used. Within three to four days of begining to administor antibiotics, the infections should begin to clear and the area to heal. Infection site should be washed three times a day and then antibiotic cream should be applied topically.

Prevention: Since this infection is common in young children due to sharing toys and close contact with children who may be infected, it is important to keep their nails short and hands clean. Each person should use seperate towels, and linens should be washed in hot water to prevent spreading the infection between people.

Sources:
Medicine Net
Web MD