Myotonic dystrophy in a large Sicilian kinship: a case report.
A large Sicilian kinship in which myotonic dystrophy (DM) affected spanning four generations is presented. The pedigree clearly illustrates the phenomenon of anticipation, and illustrates that this phenomenon is more marked when transmission occurs through an affected female rather than an affected male. The pedigree is interpreted in light of recent genetic advances in DM. Neurosurgeons and neurologists should consider a diagnosis of DM when asked to evaluate a floppy infant with enlarged lateral ventricles, and should be aware of special features regarding its inheritance pattern.
Trifiletti
R
R
Department of Neurology, Neuroscience and Pediatrics, Cornell University Medical College, New York, NY 10021, USA.
Parano
E
E
Falsaperla
R
R
Incorpora
G
G
D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype; D012802:Sicily