title: Peripheral neuropathy in patients with myotonic dystrophy type 2.
abstract: OBJECTIVE
  Myotonic dystrophy type 2 (dystrophia myotonica type 2-DM2) is an autosomal dominant multi-organ disorder. The involvement of the peripheral nervous system was found in 25%-45% of patients with myotonic dystrophy type 1, although limited data are available concerning polyneuropathy in patients with DM2, which was the aim of this study with a thorough presentation of the cases with peripheral neuropathy.
  
  
  METHODS
  Patients with genetically confirmed DM2 underwent motor nerve conduction studies of the median, ulnar, tibial and fibular nerves and sensory nerve conduction studies of the median (second finger), ulnar (fifth finger), radial (forearm) and sural nerves.
  
  
  RESULTS
  Seventeen adult patients with DM2 participated in the study. Fifty-three percent (9/17) of our patients had abnormality of one or more attributes (latency, amplitude or conduction velocity) in two or more separate nerves. Four types of neuropathies were found: (i) predominantly axonal motor and sensory polyneuropathy, (ii) motor polyneuropathy, (iii) predominantly demyelinating motor and sensory polyneuropathy and (iv) mutilating polyneuropathy with ulcers. The most common forms are axonal motor and sensory polyneuropathy (29%) and motor neuropathy (18% of all examined patients). No correlations were found between the presence of neuropathy and age, CCTG repeats, blood glucose or HbA1C.
  
  
  CONCLUSIONS
  Peripheral neuropathy is common in patients with DM2 and presents one of the multisystemic manifestations of DM2.
authors.affiliation: Institute of Clinical Neurophysiology, University Medical Center Ljubljana, Ljubljana, Slovenia.
authors.forename: L
authors.initials: L
authors.lastname: Leonardis
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001786:Blood Glucose / Q000378:metabolism; D003711:Demyelinating Diseases / Q000097:blood / Q000175:diagnosis / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000097:blood / Q000175:diagnosis* / Q000503:physiopathology*; D009431:Neural Conduction / Q000502:physiology*; D010523:Peripheral Nervous System Diseases / Q000097:blood / Q000175:diagnosis* / Q000503:physiopathology*
chemical_list: D001786:Blood Glucose
keywords: myotonic dystrophy type 2; nerve conduction studies; peripheral neuropathy