32. Facioscapulohumeral Dystrophy Definition Facioscapulohumeral dystrophy (FSHD) is a relatively benign, autosomal dominant form of muscular dystrophy that produces marked atrophy of the facial musculature, shoulder girdle, and arm. Facioscapulohumeral…
13. Behçet’s Disease Definition Behçet’s disease is believed to be an autoimmune disorder characterized by uveitis and retinal vasculitis, optic atrophy, and aphthous lesions of the mouth and genitalia. Frequently…
25. Duchenne’s Dystrophy Definition Duchenne’s dystrophy is a chronic, progressive, severe pseudohypertrophic muscular dystrophy—the most commonly occurring type. It is characterized by increasing weakness of pelvic and shoulder girdle musculature,…
30. Epidermolysis Bullosa Definition Epidermolysis bullosa (EB) is a group of disorders that give rise to blister formation secondary to even the most minor mechanical trauma. Incidence In the United…
42. Homocystinuria Definition Homocystinuria is an autosomal recessive disorder of methionine metabolism that produces an abnormal accumulation of homocystine, homocysteine-cysteine complex, and other metabolites in the blood and urine. Incidence…
40. Goodpasture Syndrome Definition Goodpasture syndrome is an autoimmune process composed of acute glomerulonephritis in conjunction with pulmonary alveolar hemorrhage and antiglomerular basement membrane antibodies. Incidence The incidence of Goodpasture…
39. Gaucher’s Disease Definition Gaucher’s disease is an autosomal recessive inherited disorder resulting from deficiency of acid beta-glucosidase. It is characterized by thrombocytopenia, anemia, hepatosplenomegaly, and bone pain. Incidence The…
29. Encephalocele Definition Encephalocele is a herniation of a portion of the brain and/or meninges through a defect of the bony skull table. The condition may be congenital or result…
37. Galactosemia Definition Galactosemia is an inherited metabolic deficiency of the galactose-1-phosphate uridyltransferase enzyme. This is one of the most common carbohydrate metabolism disorders and may be life threatening or…
36. Friedreich’s Ataxia Definition Friedreich’s ataxia is an ataxia inherited via an autosomal recessive gene. This is the most common autosomal recessive form of ataxia, accounting for about half of…
