Turner Syndrome

Turner syndrome is caused by a missing or incomplete X chromosome. People who have Turner syndrome develop as females. The genes affected are involved in growth and sexual development, which is why girls with the disorder are shorter than normal and have abnormal sexual characteristics.

Symptoms:

There are many different physical features associated with Turner syndrome. Not all girls have all symptoms, and in many cases the signs are hard to detect. Girls with Turner syndrome may have:

short stature (affects almost all girls with Turner, to different degrees)
failure of ovaries to develop (90-95% of girls)
webbed neck (25%) or short neck (40%)
abnormal fingernails and toenails (70%)
low hairline at neck (40%)
heart defect (30%)
kidney or urinary tract defect (30%)
hearing disorders (50-90%)
frequent ear infections in childhood (75%)
shortening of bones in the hands (35%)
lower jaw smaller than normal (60%)
drooping eyelids (ptosis), wandering eyes (strasbismus)

Girls and women with Turner syndrome have normal intelligence but often have learning problems that lead to difficulty with math and spatial relationships between objects.

Diagnosis:

If a physician suspects a girl may have Turner syndrome because she is not growing at a normal rate, and perhaps has one or more of the other signs of the syndrome, a chromosome analysis will be done. Finding the specific chromosome problem of the syndrome is the only definitive diagnosis.

Treatment:

There are two main medications given to girls with Turner syndrome. One is human growth hormone, used to increase the girl's growth rate and help her be taller. The other medication is estrogen, a female hormone, to replace the estrogen which would normally have been produced by the ovaries. Another female hormone, progesterone, is also given when the girl grows older, to help her have a normal monthly menstrual cycle.

Since a girl with Turner syndrome usually does not have ovaries, she cannot produce eggs and become pregnant when she grows up. However, some women with Turner syndrome can use in vitro fertilization to become pregnant, using donated eggs. Other women choose to adopt children in order to have a family.


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Werner Syndrome

Werner syndrome, also known as progeria of the adult, is the most common of the premature aging disorders. Werner syndrome is inherited as an autosomal recessive disorder of chromosome 8, meaning that a defective gene is inherited from each parent. The syndrome is estimated to occur in 1 in 1 million individuals. Higher incidences of Werner syndrome have been reported in Japan and Sardinia. It affects both males and females.

Symptoms
Werner syndrome may begin in adolescence, but most often it begins in the mid-30s. Up until symptoms begin, the individual has healthy normal development. Once the disease process begins, the individual's body begins to age faster than normal. This produces symptoms such as:

Wrinkling and sagging of the face
Decreasing muscle mass
Thin skin and loss of fat under the skin
Graying hair and hair loss
A high-pitched voice

Along with the physical appearance of aging, body organs and systems also begin to age. This produces diseases such as:

Cataracts (cloudy spots on the lens of the eye)
Osteoporosis (weakened bones)
Diabetes (type 2)
Rare cancers such as thyroid cancer, lymphoma, and sarcoma
Heart and artery disease
Premature menopause in females.

Diagnosis and treatment
Diagnosis of Werner syndrome is based on physical examination. The most striking symptom is that the individual appears to be much older than he/she really is. There are no specific laboratory tests for Werner syndrome. However, since diabetes may occur, the blood sugar level should be checked, and since artery disease may develop, cholesterol levels should be monitored, and treated if necessary. There is no cure or specific treatment for Werner syndrome.

Future research
Scientists have developed a strain of mice which have all the symptoms of Werner syndrome. They plan to use the mice in research to look at the relationship between aging and cancer, as well as gaining insight into the mechanisms at work in Werner syndrome.


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Danon Disease

Danon disease, a genetic disorder characterized by heart problems, mental retardation and muscle weakness. Changes in the retina of the eye, leading to visual disturbances, may be present. Males are more severely affected and show symptoms in childhood or early adolescence, while affected females usually develop the symptoms later, in adolescence or adulthood.

The disease is due to a mutation in the gene for LAMP-2 (which stands for lysosome-associated membrane protein 2.), a glycoprotein molecule (a molecule made up of carbohydrate + protein) that is normally located on the membrane surrounding the lysosome (a packet of powerful corrosive enzymes that degrade "garbage" within cells).

Danon disease is named for Dr. M.J. Danon who (together with colleagues) originally described it 1981 as "lysosomal glycogen storage disease with normal acid maltase."

Danon disease usually manifests with the clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. The skeletal myopathy and mental retardation are less common in females than in males. Regardless of sex, cardiomyopathy can present as a result of symptoms or congestive heart failure (CHF) or an arrhythmia-related event, such as syncope or sudden death. Patients are also newly identified when asymptomatic relatives of patients with established Danon disease are evaluated and are found to have the disease.

Sign and Symptoms:

* Moderate loss of central visual acuity
* Depigmentation of the peripheral retina[8]
* Decreased visual acuity with diffuse choriocapillary atrophy[11]
* Peripheral pigmentary retinopathy
* Lamellar opacities in the lens
* Nonspecific changes on electroretinography

Treatment:

Patients with Danon disease require frequent follow-up, with particular attention to the potential for atrial or ventricular arrhythmias and congestive heart failure (CHF). As is recommended in patients with hypertrophic cardiomyopathy (HCM), a ventricular septal thickness more than 30 mm is considered a risk factor for a life-threatening event, particularly in this group of patients who often have a poor prognosis for survival beyond their teenage years.




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