Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sensory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cousins. These children appear to have a distinct variant of hereditary sensory and autonomic neuropathy with infantile cataracts, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.
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PMID:Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency. 840 71

Chronic complications of diabetes are associated mainly with changes in major and small arterial vessels as well as in peripheral and autonomic fibers of the nervous system. For years it has been suggested that DM2 does not predispose to osteoporosis because bone mineral density (BMD) in DM2 patients is commonly normal or even increased. However, results of recent large cross-sectional studies have indicated that patients with DM2 have significantly increased risk of bone fractures, predominantly hip fractures (by 70%). Results of these studies suggest that the increased risk of fractures in DM2 is independent of BMD. In this group of patients is frequently associated the loss of vision caused by diabetic eye disease, peripheral neuropathy, arterial hypertension, orthostatic hypotonia (caused by autonomic neuropathy or/and by concomitant antihypertensive treatment), and ischemic disease of the brain, heart and lower extremities--conditions that predispose to falls. There are no specific methods of prophylaxis and treatment of osteoporosis associated with diabetes; therefore they should be based on widely accepted principles as in non-diabetic populations. It seems that in DM2 patients the most purposeful strategy could be the popularization of healthy attitudes aiming the elimination of unfavorable dietetic and environmental factors, such as low physical activity, smoking, and low vitamin D intake, as well as education against falls.
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PMID:[Does type 2 diabetes predispose to osteoporotic bone fractures?]. 1861 97