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,…
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…
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…
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…
35. Fibrous Dysplasia Definition Fibrous dysplasia is a dysplastic bone disorder wherein immature woven bone forms directly from abnormal fibrous connective tissue. Fibro-osseous tissue within affected bones expands as a…
23. Dermatomyositis Definition Dermatomyositis is a disorder of collagen/connective tissue characterized by nonsuppurative skin inflammation and subcutaneous tissue and muscle fiber necrosis. It may be acute, subacute, or chronic. Incidence…
