Nervous System: Tourette's Syndrome

Tourette's Syndrome

Common Name: Tourette's, TS, GTS, Tourette's disorder.

Age of Onset: Before the individual is 21.

Common in both male and female

Duration: lifetime

Cause: Tourette's is often associated with obsessive-compulsive symptomatology, attention deficit hyperactivity disorder, and other behavioral problems, although these are not part of the current diagnostic criteria. The cause is unknown, but it is well established that genetic and environmental factors of involved. No one gene has been linked to tourette's.

Symptoms: Motor tics can be so simple as forceful eye blinking or so severe as bending over and touching the ground. Vocal tics are normally unintelligible sounds, such as sniffing, grunting or throat clearing, but they can also be intense, such as uttering whole phrases. Other complex phenomena include coprolalia, copropaxia, echolalia, echopraxia, and palilalia.

Prognosis: Since there is no cure for Tourette's, the condition in many individuals improves in the late teens and early 20s. Some may become symptom-free or no longer need medication for tic suppression. Although the disorder is generally lifelong and chronic, it is not a degenerative condition. Individuals with Tourette's have a normal life expectancy. Although tic symptoms tend to decrease with age, it is possible that neurobehavioral disorders such as depression, panic attacks, mood swings, and antisocial behaviors can develop.

Treatment Options: Individuals with life-disrupting symptoms can often takes several drugs that affect the chemistry of the brain: Haldol, Catapres, Orap, Prolixin, Anafranil, and Prozac. These medications have side effects that can be life-disrupting themselves. Family counseling and psychotherapy can help the individuals cope with this disease and deal with the social stigma associated with Tourette's.

Website: http://www.healthscout.com/ency/68/433/main.html#CausesandRiskFactorsofTourette

Muscular System: Tetanus

Tetanus

Common Name: Lockjaw

Age of onset: any

Duration: People who have tetanus must be treated in a hospital. Severe muscle spasms may last for about three to four weeks and then slowly get better. Once these spasms subside, recovery takes several months.

Tetanus is common in both males and females.

Cause: Tetanus is caused by a bacteria called Clostridium tetani. The bacterial spores are found in soil, street dust, and in animal feces. These spores are transmitted to humans through simple cuts. Once the spores are inside the body they beome active and release a toxin into the blood stream. This disease can also be transmitted through animal scratches and bites, surgical wounds, and even dental work.

Symptoms: The first symtom is usually a locked or stiff jaw. The patient is unalbe to open thier mouth or swallow. The stiffeness then spreads through the neck and other muscles of the body. The patient often goes through uncontrollable spasms. These spasms can be severe to cause broken bones. Other symptoms are loss of appetite, irritability, drooling, and restlessness.

Prognosis: 30% of individuals in the United States with tetanus die. Early diagnosis and treatment helps the chance of survival immensly. The death rate of infants who develop tetanus is 90%.

Treatment Options: Immune globulin is the immediate treatment of unimmunized individuals exposed to material likely to contain bacteria. Treatment also includes bed rest and quiet conditions. Penicillin is aslo used to eradicate the bacteria. Sedation and mechanical ventilation may be used to control the spasms. Tetanus is a totally preventable disease by using active immunization.

Website: http://www.healthscout.com/ency/68/291/main.html#TreatmentofTetanus

Skeletal System: Hypophosphatasia

Disease: Hypophosphatasia


Common Name: Hypophosphatasia, but comes in one of the 5 forms: perinatal, infantile, childhood, adult, and odontohypophosphatasia.

Age of Onset: the disease is inherited; but can occur anytime throughout life.

Duration: Lifetime

Common in both male and female.

Causes: A mutation in the gene that codes for tissue-nonspecific alkaline phosphatase is believed to be the cause of hypophosphatasia. The gene has been named ALPL . The ALPL gene is located at band Perinatal and infantile hypophosphatasia have an autosomal recessive mode of inheritance. Both autosomal recessive and autosomal dominant patterns of inheritance have been demonstrated for the childhood, adult, and odontohypophosphatasia forms.

Symptoms: They vary and can appear anywhere from birth to adulthood. The most severe type occurs before birth or ealry infancy. It weakens and softens the bones, which caused skeletal abnormalities (similar to rickets). Infants who are affected are born with short limbs, soft skull bones, and an abnormally shaped chest. Poor feeding, failure to gain weight, hypercalcemia (high levels of calcium in the blood) which leads to kindey problems and uncontrolled vomiting, and respiratory problems occur in infancy. These complications are life-threatening in some cases. The cases that appear in childhood and adulthood are less severe than those who have it as infants. Lossing baby (primary) teeth early is the first sign of children with this disease. The children may be short with bowed legs or knocked knees, abnormal skull shape, and enlarged ankle and wrist joints. Adult forms are characterized by a softening of bones (osteomalcia). Reccurent fractures of thigh and foot bones can have chronic pain, and affected adults may lose thier adult (secondary) teeth early. The adults are at a greater risk of for joint pain and inflammation.

Prognosis: The earlier the diagnosis is made the more severe the skeletal appears. Cases detected in the womb or with severe deformity at birth almost always have a lethal outcome within days or weeks. When the diagnosis is made before the individual is six months old, some infants have a downhill and fatal course. Others survive and may even do well. When they are diagnosed during childhood, premature loss of teeth (less than five years old) is the most common symptom. Adults may have recurrent fractures in their feet and thigh bones.

Treatment Options: Treatment with Vitamin D and its breakdown products has not been successful in Hypophosphatasia and other forms of Vitamin-D resistant Rickets. Sustained oral phosphate supplements may be beneficial in some cases. Other treatment depends on the symtoms, like per scribing a drug to help with the pain. Genetic counseling is recommended for families of persons with Hypophosphatasia.




Source: http://www.magicfoundation.org/www/docs/175/

Integumentary System: Albinism

Disease: Albinism

Common Name: Albinism or Albino

Age of onset: Birth

Duration: Lifetime

Common: In mammals, fish, birds, reptiles, and amphibians. It affects both male and female equally.

Cause: Flaw in one or more of the genes that are responisible for for directing the eyes and skin to make melanin. In most casses, a recessive trait, the child inherited flawed genes for making melanin from both parents.

Symptoms: Can involve the skin, hair, and eyes. The skin, since it has little to no pigment, appears white, as does the hair. They may experience a variety of eye problems, one of the myths is that albinism is that the person may have red or pink eyes. They can have eyes from light grey, blue, or even brown. If they have red eyes, it is because light is being refelected from the back of the eye. Eye problems include: far-sighted, near-sighted, nystagmus, strabismus which can have the person appear cross-eyed, and may be very sensitive to light.

Prognosis: Patients can expect a normal lifespan. They may experience social problems because of the lack of knowledge of others. The greatest health hazard is excess exposure to the sun which can lead to skin cancer. If they wear sunscreen and opaque clothing, patients can safely enjoy a long lived life.

Treatment Options: There is no treatment that can replace the lacking of melanin. Docotors can only treat the eye problems using glasses. Patients with albinism should avoid excess exposure to the sun, using sun screen if unavoidable.

Source: http://www.healthatoz.com/healthatoz/Atoz/common/standard/transform.jsp?requestURI=/healthatoz/Atoz/ency/albinism.jsp