title: Early onset muscular dystrophy with autosomal dominant heredity. Report of a family and CT findings of skeletal muscle.
abstract: The clinical features and muscle pathology in a female infant and her mother with early onset and slowly progressive muscular dystrophy (MD), possibly transmitted through autosomal dominant inheritance, are described. The mother exhibited multiple joint contractures at birth. The daughter had mild proximal muscle weakness at 2 3/12 years old. The muscle biopsy specimens from both patients showed myopathic changes with evidence of fiber necrosis and regeneration. Computed tomographic (CT) findings of their skeletal muscles suggested that proximal muscles were involved at an early stage, with later gradual involvement of generalized muscles, without a characteristic selectivity pattern in thigh muscles. This may possibly be a clinically benign and distinct variant of MD with a slowly degenerating pattern of skeletal muscles on CT.
authors.affiliation: Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Tohyama
authors.forename: M
authors.initials: M
authors.lastname: Inagaki
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging* / Q000473:pathology; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D009336:Necrosis / Q000473:pathology; D010375:Pedigree; D014057:Tomography, X-Ray Computed