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...

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Bibliographic Details
Published in:Child's nervous system 1995-08, Vol.11 (8), p.453-455
Main Authors: TRIFILETTI, R, PARANO, E, FALSAPERLA, R, INCORPORA, G
Format: Article
Language:English
Subjects:
Adult
Atrophy
Biological and medical sciences
Brain - pathology
Cerebral Ventricles - pathology
Child, Preschool
Diseases of striated muscles. Neuromuscular diseases
Female
Follow-Up Studies
Humans
Infant
Magnetic Resonance Imaging
Male
Medical sciences
Myotonic Dystrophy - diagnosis
Myotonic Dystrophy - genetics
Neurologic Examination
Neurology
Pedigree
Phenotype
Sicily
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Description
Summary: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.
ISSN:0256-7040
1433-0350
DOI:10.1007/BF00334964