title: [Clinical, familial and hereditary analysis of myotonic dystrophy].
abstract: OBJECTIVE
  To analyze the clinical, familial and hereditary features of myotonic dystrophy to improve the knowledge and provide molecule evidence for gene diagnosis and prenatal diagnosis of myotonic dystrophy or dystrophia myotonia (DM) families.
  
  
  METHODS
  Clinical data of 2 DM families were collected based on the probands. The number of trinucleotide CTG repeat in the 3' untranslated region of myotonic dystrophy protein kinase (DMPK) gene on chromosome 19 was determined by DNA sequence and repeat fragment.
  
  
  RESULTS
  Except for 1 subclinical patient, another 5 patients progressed slowly with the features of myotonic muscular weakness and atrophy. One patient had hatchet face, 1 had cataract and diabetes mellitus, and the other 3 were bald. Electromyologram showed 3 patients had myotonic discharge and myopathic abnormalities. The number of trinucleotide CTG repeat in the 3' untranslated region of DMPK gene of 5 patients exceeded 50.
  
  
  CONCLUSIONS
  DM can be anticipated. Gene analysis can verify the disease and identify subclinical patients. It helps to prevent the DM births by hereditary consultation performing prenatal diagnosis.
authors: Department of Neurology, First Affilicated Hospital, Sun-Yat-sen University, Guangzhou 510080, China.
authors: Zhenfu
authors: Z
authors: Wu
authors: Juan
authors: J
authors: Yang
authors: Jiqing
authors: J
authors: Cao
authors: Zhaohui
authors: Z
authors: Hu
authors: Yixin
authors: Y
authors: Zhan
authors: Jing
authors: J
authors: Li
authors: Yaqin
authors: Y
authors: Li
authors: Yanyun
authors: Y
authors: Wang
authors: Cheng
authors: C
authors: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D018911:Trinucleotide Repeats
chemical_list: C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases