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Candidiasis-hypoparathyroidism–Addison's disease syndrome: Autoimmune polyendocrine syndrome type 1 is autosomal recessive: Specialty: Endocrinology, medical genetics: Symptoms: chronic mucocutaneous candidiasis: Causes: mutation in AIRE gene: Diagnostic method: CT scan, biopsy: Treatment: hormone therapy, antifungals, immunosuppression
Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
Fuchs dystrophy, also referred to as Fuchs endothelial corneal dystrophy (FECD) and Fuchs endothelial dystrophy (FED), is a slowly progressing corneal dystrophy that usually affects both eyes and is slightly more common in women than in men. Although early signs of Fuchs dystrophy are sometimes seen in people in their 30s and 40s, the disease ...
Treatment for NPS varies depending on the symptoms observed. Perform screening for kidney disease and glaucoma, surgery, intensive physiotherapy, or genetic counseling. [7] ACE inhibitors are taken to treat proteinuria and hypertension in NPS patients. [12] [13] Dialysis and kidney transplant. [14] [15] Physical therapy, bracing and analgesics ...
When affected by some reason, such as Fuchs' dystrophy or a trauma during cataract removal, endothelial cells suffer mortality or damage. [1] The corneal endothelial cells normally do not undergo mitotic cell division, and cell loss results in permanent loss of function.
Iridocorneal endothelial (ICE) syndromes are a spectrum of diseases characterized by slowly progressive abnormalities of the corneal endothelium and features including corneal edema, iris distortion, and secondary angle-closure glaucoma. [1] [2] [3] ICE syndromes are predominantly unilateral and nonhereditary.
Symptomatic treatment, which aims to relieve symptoms and improve quality of life is the main treatment method of Bethlem myopathy. It is believed that physical therapy , stretching exercises , orthoses such as braces and splints , and mobility aids like a walker or wheelchair are beneficial to patient's condition.
Several diseases have been observed in people with PMD. However, no causal relationships have been established between any of the associated diseases and the pathogenesis of PMD. Such diseases include: chronic open angle glaucoma, retinitis pigmentosa, retinal lattice degeneration, scleroderma, [18] kerato-conjunctivitis, eczema, and ...