Health and Fitness

Corticobasal Degeneration Summary Corticobasal degeneration (CBD) is a rare progressive neurological disorder characterized by cell loss and deterioration of specific areas of the brain. Affected individuals often experience movement disorders initially in one limb that might spread to both the arms and legs. Symptoms include muscle rigidity and the inability to perform purposeful or voluntary movements (apraxia). Affected individuals may have sufficient muscle power for manual tasks but struggle to direct their movements appropriately. Although CBD was historically described as a motor disease, it is now recognized that cognitive and behavioral symptoms are also associated with CBD and often come before the motor symptoms. Initial signs typically appear in people ages 60-70, and may include language difficulties, poor coordination and issues with memory. The exact cause of CBD is unknown; however, it may be linked to the accumulation of the tau protein in the brain. SIGNS & SYMPTO...

 Corneal Dystrophies DISEASE OVERVIEW Corneal dystrophies are a group of genetic, often progressive, eye disorders in which abnormal material often accumulates in the clear (transparent) outer layer of the eye (cornea). Corneal dystrophies may not cause symptoms (asymptomatic) in some individuals; in others they may cause significant vision impairment. The age of onset and specific symptoms vary among the different forms of corneal dystrophy. The disorders have some similar characteristics – most forms of corneal dystrophy affect both eyes (bilateral), progress slowly, do not affect other areas of the body, and tend to run in families. Most forms are inherited as autosomal dominant traits; a few are inherited as autosomal recessive traits. An international classification of the corneal dystrophies has been developed that takes into account the chromosomal loci of the various corneal dystrophies as well as the responsible genes and their mutations. Traditionally, these disorders hav...

 Mycoplasma OVERVIEW Mycoplasma genitalium is a sexually transmitted infection (STI) that shares similarities with more common STIs like Chlamydia and Gonorrhea. Symptoms may include painful urination, abnormal discharge, abdominal pain, and others, but it is also common to have no symptoms at all. Transmission of Mycoplasma genitalium primarily occurs through unprotected vaginal or anal sex, and rarely, through oral sex.  Testing for Mycoplasma genitalium involves obtaining a vaginal swab or urine sample, and if appropriate, an anal or oral swab. These samples are processed using PCR technology to detect the presence of the infection. If the test results come back positive, treatment is available in the form of oral antibiotics. It is important to get treated as Mycoplasma genitalium can lead to severe complications if left untreated. Symptoms Symptoms typically begin to appear within 1 to 3 weeks after being exposed to Mycoplasma genitalium. However, this may vary and it is ...

Congenital Syphilis DISEASE OVERVIEW Congenital syphilis is a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this disease may not become apparent until several weeks or months after birth and, in some cases, may take years to appear. Congenital syphilis is passed on to the child from the mother who acquired the disease prior to or during pregnancy. The infant is more likely to have congenital syphilis when the mother has been infected during pregnancy although it is not uncommon for an infant to acquire congenital syphilis from a mother who was infected prior to pregnancy. Symptoms of early congenital syphilis include fever, skin problems and low birth weight. In late congenital syphilis, the symptoms of the disease do not usually become apparent until two to five years of age. In rare cases, the disease may remain latent for years with symptoms not being diagnosed until well into adulthood. SIGNS ...

Conradi Hünermann Syndrome Summary Conradi-Hünermann syndrome is a rare genetic disorder that affects approximately 1:100,000 to 1:200,000 births. This syndrome typically presents with skeletal abnormalities, short stature, differences in the form of the skull bones (craniofacial), eye or vision differences, and skin, hair, and nail abnormalities. The specific symptoms and severity of the disorder may vary greatly in individuals with Conradi-Hünermann syndrome. Symptoms may manifest anytime between early life to adulthood. Conradi-Hünermann syndrome is classified as a form of chondrodysplasia punctata, a group of disorders characterized by the formation of small, hardened spots of calcium on the “growing portion” or heads of the long bones (stippled epiphyses), the bones of the spine (vertebrae), the windpipe (trachea) and parts of the ribs. Skeletal findings in Conradi-Hünermann syndrome present as asymmetric shortening of long bones, particularly those of the upper arms (humeri), thi...

 Cor Triatriatum DISEASE OVERVIEW Cor triatriatum is an extremely rare congenital (present at birth) heart defect. Normally, the human heart has four chambers of which two are the atria. These two are separated from each other by a partition (septum) called the atrial septum. The other two chambers, known as ventricles, are also separated by a septum. In cor triatriatum there is a small extra chamber above the left atrium of the heart. The pulmonary veins, returning blood from the lungs, drain into this extra “third atrium.” The passage of blood from the lungs into the heart (left atrium and ventricle) is slowed by this extra chamber. Cor triatriatum may eventually lead to features of congestive heart failure and obstruction over time. SIGNS & SYMPTOMS The symptoms of cor triatriatum vary greatly, depending on the size of the opening between the extra chamber and the left atrium. If the opening is small, symptoms usually develop early in infancy and probably will include abnorm...

  COPA Syndrome Summary COPA syndrome is a rare, genetic autoimmune disorder that can affect multiple systems of the body, especially the lungs, kidneys, and joints. Symptoms usually appear in childhood during the first or second decade of life. The signs and symptoms, and the severity of the disorder can be very different in one person when compared to another. This is true even for members of the same family. COPA syndrome is an immune-mediated disorder, which means that the characteristic inflammation results from abnormal functioning (dysregulation) of the immune system and the presence of specific autoantibodies. The disorder is caused by variations (mutations) in the COPA gene and occurs spontaneously as a new variation, or is inherited in an autosomal dominant pattern. COPA syndrome has been described as having features of both autoimmune disorders and autoinflammatory disorders. An autoimmune disorder is one in which the body’s adaptive immune system, which protects the bod...