Category: D

  • Desmin storage myopathy

    Desmin storage myopathy is a muscle disorder that is so named based on the findings of accumulations of desmin in affected individuals. Desmin is a necessary protein that is involved in skeletal and cardiac muscle; desmin storage myopathy occurs when there are excessive amounts of desmin resulting in impaired muscle development or function.  

  • Duchenne muscular dystrophy

    Duchenne muscular dystrophy is a degenerative disorder in which there is progressive symmetrical weakness of skeletal muscles with proximal muscles affected more than distal and lower limbs affected first. The etiology is genetic, with an X-linked recessive transmission, usually familial, but with a relatively high occurrence (15-30%) of transmission via mutation. The specific genetic mechanism…

  • Dystonia musculorum deformans

    Dystonia musculorum deformans is a disease of muscle torsion and posturing that affects children between the ages of 5 and 15. The disease first affects the feet and legs. In adolescents the symptoms tend to start in the hands and arms, sometimes resembling writer’s cramp. At early onset children may gaitor prance. This is a…

  • Dysthymia

    Dysthymia is one of the predominant types of depressive disorders in children and adolescents. It is an affective disorder characterized by chronically depressed mood (or irritable mood) that occurs most of the time for at least one year (American Psychiatric Association [APA], 1994). In differentiating dysthymia from major depressive disorder, the mood disturbance in dysthymia…

  • Dysplastic nevus syndrome

    Dysplastic nevus syndrome is also known as B-K mole syndrome, atypical mole syndrome, or familial atypical mole- melanoma syndrome. The U.S. National Institutes of Health prefers the latter term and defines the condition in its 1992 “Melanoma: Consensus Statement” as the “(1) occurrence of melanoma in one or more first or second degree relatives, (2)…

  • Dyslogic syndrome

    Dyslogic syndrome, sometimes referred to as developmental or congenital aphasia, consists of the inability to express oneself through language due to a central nervous system dysfunction. Symptoms may not be the result of a sensory or cognitive deficit, nor may they occur due to loss of prior linguistic abilities. The primary characteristic of dyslogia is…

  • Developmental dyslexia

    Dyslexia, or reading disability, is characterized by low reading achievement, as measured by an individually administered standardized test of reading accuracy or comprehension that is substantially below what would be expected given an individual’s chronological age, measured intelligence (IQ), and age-appropriate education. It should be noted, however, that recent studies have demonstrated that the same…

  • Dysgraphesthesia

    Dysgraphesthesia is the inability to recognize symbols drawn on parts of the body. Often referred to as a neurological “soft sign,” dysgraphesthesia is more common in children with learning disabilities or behavior disorders, although a direct causal relationship has not been found. Dysgraphesthesia has also been associated with cortical motor deficit, parietal lobe dysfunction, peripheral…

  • Duodenal atresia and duodenal stenosis

    Duodenal atresia (DA) is a rare congenital anomaly of the duodenum, the first section of the small intestine, which lies adjacent to and just downstream from the outlet of the stomach. In DA there is disruption and occlusion of the tubular continuity (lumen) of the gut. Duodenal stenosis refers to a narrowing of the intestinal…

  • Duhring disease

    Duhring disease, also known as dermatitis herpetiformis, is a rare and chronic skin disorder that is characterized by the presence of skin lesions that cause severe itching, burning, and stinging. The etiology of the disease, which is not fully understood, is believed to be genetic predisposition. Approximately 90% of people with Duhring disease are positive…