title: Myotonic dystrophy type 1 (DM1): a triplet repeat expansion disorder.
abstract: Myotonic dystrophy is a progressive multisystem genetic disorder affecting about 1 in 8000 people worldwide. The unstable repeat expansions of (CTG)n or (CCTG)n in the DMPK and ZNF9 genes cause the two known subtypes of myotonic dystrophy: (i) myotonic dystrophy type 1 (DM1) and (ii) myotonic dystrophy type 2 (DM2) respectively. There is currently no cure but supportive management helps equally to reduce the morbidity and mortality and patients need close follow up to pay attention to their clinical problems. This review will focus on the clinical features, molecular view and genetics, diagnosis and management of DM1.
authors.forename: Ashok
authors.initials: A
authors.lastname: Kumar
authors.forename: Sarita
authors.initials: S
authors.lastname: Agarwal
authors.forename: Divya
authors.initials: D
authors.lastname: Agarwal
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D006801:Humans; D025202:Molecular Diagnostic Techniques; D009126:Muscle Relaxation / Q000502:physiology; D018908:Muscle Weakness / Q000235:genetics / Q000628:therapy; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012313:RNA / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: C433227:CNBP protein, human; C585517:DMPK protein, human; D016601:RNA-Binding Proteins; D012313:RNA; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases