title: Respiratory insufficiency in a severe autosomal recessive form of muscular dystrophy.
abstract: In a large Sudanese kindred of 176 individuals, 15 children developed a brief respiratory illness in the course of a severe autosomal recessive muscular dystrophy (MD) and eight of them died. The type of MD in this kindred delineates a newly recognized entity which has been described from Sudan, Tunisia, Libya and Qatar . To assess the role of pulmonary insufficiency in the fatal outcome of this disease, pulmonary function was studied in six of the survivors. Values of lung volume were grossly abnormal and revealed a restrictive pattern. The degree of lung volume restriction varied from 50 to 76% of predicted total lung capacity (TLC) and 31-55% of predicted forced vital capacity (FVC). The high FEV1/FVC ratio (80-100%) in all patients excluded airway obstruction and the elevated ratio of residual volume (RV) to TLC (51-68%) reflected loss of inspiratory capacity. FVC showed no correlation with the degree of muscular disability and did not seem to be affected by the mild scoliosis seen in five children. These results are discussed in view of similar studies in a variety of neuromuscular disorders.
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008168:Lung / Q000503:physiopathology; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000503:physiopathology; D012600:Scoliosis / Q000150:complications