Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fifteen subjects with Becker's muscular dystrophy (BMD) were studied prospectively over a 10-yr period to provide a profile of impairment and disability. Proximal lower extremity musculature (particularly the hip and knee extensors), ankle dorsiflexors, and neck flexors showed significantly early weakness. Extensor muscle groups were weaker than flexor muscles at the elbow and knee. The mean manual muscle test (MMT) strength grade for all muscle groups combined was 3.7 +/- 0.8 MMT units. There was a slowly progressive decline in strength, only -0.31 MMT units per decade, and the decline was relatively equal in all muscle groups. There was not side dominance. Severe contractures did not appear to be a problem until after transition to a wheelchair, and scoliosis was rare. Restrictive lung disease occurred as a late complication in a small percentage of cases; however, maximal expiratory pressure was significantly reduced early in the disease. Only two individuals (19%) had severe restrictive lung disease and a history of significant respiratory complications. There was a slight but significant decline in forced vital capacity and maximal expiratory pressure with age and disease duration. The cardiomyopathy in BMD appeared to be disproportionately severe in some cases. Eleven individuals (73%) had abnormal electrocardiograms, and five (25%) had a history of significant cardiovascular complication, with no age or disease duration effect. Functional evaluations and timed motor performance tests showed only mild disability in most individuals. Mean intellectual and neuropsychologic function was within normal limits, but with a large variability in intelligence quotient scores. This report and others suggest a tremendous heterogeneity of severity among males with BMD.
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PMID:Profiles of neuromuscular diseases. Becker's muscular dystrophy. 757 25

Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. This syndrome is characterized by a multitude of clinical findings including arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities. Restrictive lung disease may be associated with the severe scoliosis and thoracic cage abnormalities in this syndrome. We describe a child with Beals-Hecht syndrome and review the literature.
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PMID:Beals-Hecht syndrome. 1214 83

Patterns of lung growth and function were studied retrospectively in 103 patients (73 male and 30 female) with idiopathic pectus excavatum in order to determine: 1) the prevalence of restrictive lung defect and/or other lung function abnormalities; 2) the possible association between type of lung function abnormalities and age of the patient; and 3) whether the type of lung function is associated with other clinical conditions. Forty-three patients (42%) were between 5-9 years of age; 36 (35%) were between 10-14 years; and 24 (23%) were between 15-19 years. Restrictive lung disease was detected only in 5 patients (5%), whereas 42 patients (41%) had evidence of obstructive pattern, and the remaining 56 patients (54%) had a normal pattern. The mean values for lung volume (total lung capacity (TLC) and/or forced vital capacity (FVC)) were lowest in the 10-14-year group, whereas the mean values of the indices of lower airway function (forced expiratory volume at 1 sec (FEV(1)), FEV(1)/FVC, forced expiratory flow at 25-75% of forced vital capacity (FEF(25-75)), and FEF(25-75)/FVC) were higher in the younger group. Residual volume (RV) and RV/TLC were elevated in all age groups, but they declined toward normalization with increasing age. There were no significant differences between groups (stratified either by pattern of lung function or by age) with regard to their demographics or clinical characteristics (scoliosis, direction of sternal rotation, history of asthma/reactive airways disease, or exercise intolerance). We conclude that idiopathic pectus excavatum may be associated with a variety of lung function abnormalities (in particular, lower airway obstruction) even in the absence of overt clinical symptoms. There was no evidence of significant worsening of lung function with increasing age.
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PMID:Lung growth and function in children and adolescents with idiopathic pectus excavatum. 1611 May 9