Nonclassical Adrenal Hyperplasia (NCAH): NCAH results from a defect in an enzyme necessary for the conversion of cholesterol to cortisol, which is the body’s primary stress hormone. Mutations in this gene are also responsible for the much more severe salt-wasting and simple virilizing types of adrenal hyperplasia which present shortly after birth. The non-classical type presents at any time after birth and exhibits much milder symptoms.
Nonsyndromic Hearing Loss and Deafness: Nonsyndromic hearing loss refers to non-progressive mild-to-profound sensorineural hearing impairment, impairment stemming from problems within the ear’s nerves, which is not associated with any other medical problems or physical abnormalities. There are many known causes of nonsyndromic hearing loss, many of which are genetic. DFNB1 accounts for 50% of all congenital, autosomal recessive nonsyndromic hearing loss. This type of hearing loss is present at birth and varies from mild to severe levels.
Torsion Dystonia: A progressive movement disorder characterized by sustained, or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. The movements are usually patterned and twisting, and may resemble a tremor. Dystonia may affect a single body area or be generalized throughout multiple muscle groups. Spasms are often made worse by voluntary movement, stress and fatigue. Dystonia affects men, women, and children of all ages and backgrounds. Although there are several forms of dystonia and the symptoms may outwardly appear quite different, the element that all forms share is the repetitive, patterned, and often twisting involuntary muscle contractions. Dystonia is a chronic disorder, but the vast majority of dystonias do not impact cognition, intelligence, or shorten a person's life span.
Crohn’s Disease: While the exact prevalence of Crohn’s disease is unknown, Crohn’s has been found to be more frequent in people of Caucasian and Ashkenazi Jewish descent. Crohn’s disease is an inflammatory bowel disease (IBD) that causes inflammation of the lining of the gastrointestinal(GI) or digestive tract which can lead to flare-ups. The symptoms of Crohn’s disease can be similar to those of other conditions so a physician may run different tests to pinpoint a Crohn’s disease diagnosis. These tests include blood work, stool tests, a colonoscopy, a barium x-ray, and/or a biopsy or tissue sample of any inflamed area for lab analysis. Genetic testing is currently unavailable for Crohn’s Disease. There is currently no cure for Crohn’s disease but there are medications and therapies available. These treatments work by decreasing the abnormal inflammation in the GI system. The five groups of drugs used to treat Crohn’s disease are aminosalicylates, steroids, immune modifiers, antibiotics and biologic therapy. Doctors may recommend over the counter medications such as anti-diarrheals, pain relievers, and nutritional supplements to help alleviate symptoms. Individuals with Crohn’s disease can live a normal life span with proper management and care. Since the exact cause of Crohn’s disease is unknown, currently, there is no way to predict which, if any, family members will develop Crohn’s disease. Researchers have discovered that Crohn’s disease tends to run in families although no specific pattern of inheritance has yet been identified.
Pemphigus: Pemphigus is a group of rare skin disorders that cause blisters of your skin or mucous membranes, such as in your mouth or on your genitals. There are two main types: pemphigus vulgaris and pemphigus foliaceus. Pemphigus vulgaris is the most common form. Pemphigus can occur at any age, but often strikes people in middle age or older. Usually a chronic condition, pemphigus is best controlled by early diagnosis and treatment, which may include medications or treatments similar to those used for severe burns. While this is a rare condition (incidence of 1-10 cases per 1million individuals, while the incidence in individuals of Ashkenazi Jewish and Mediterranean descent is slightly higher at 16 -32 cases per 1 million individuals). Pemphigus is a type of autoimmune disorder and the exact cause of disease is unknown. Pemphigus can be a difficult disorder to diagnose but in addition to a complete medical and family history a physician may check for skin peeling, perform a skin biopsy or run blood tests in order to make a diagnosis. While there is no cure currently for this condition, medications are available to help reduce symptoms and prevent complications. Genetic testing is currently unavailable for this condition.