Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2)

Neuromuscul Disord. 2003 Dec;13(10):813-21. doi: 10.1016/s0960-8966(03)00137-8.


A previous study in proximal myotonic myopathy (PROMM/DM-2) and myotonic dystrophy type 1 (DM-1) using brain positron emission tomography demonstrated a reduced cerebral blood flow in the frontal and temporal regions associated with cognitive impairment. The objective was to investigate further cognitive and behavioural aspects in a new series of patients with DM-1 and PROMM/DM-2. Nineteen patients with genetically determined PROMM/DM-2 and 21 patients with moderately severe DM-1 underwent neuropsychological testing and neuropsychiatric interviews. DM-1 and PROMM/DM-2 patients had significantly lower scores on tests of frontal lobe function compared to controls. Neuropsychiatric interviews demonstrated an avoidant trait personality disorder in both patient groups. Brain single photon emission computed tomography showed frontal and parieto-occipital hypoperfusion. The results suggest that there is a specific cognitive and behavioural profile in PROMM/DM-2 and in DM-1, and that this profile is associated with hypoperfusion in frontal and parieto-occipital regions of the brain.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Cerebrovascular Circulation / physiology
  • Cognition Disorders / diagnostic imaging
  • Cognition Disorders / etiology*
  • Cognition Disorders / physiopathology
  • Female
  • Frontal Lobe / diagnostic imaging
  • Frontal Lobe / physiopathology
  • Humans
  • Male
  • Middle Aged
  • Myotonic Disorders / diagnostic imaging
  • Myotonic Disorders / physiopathology*
  • Myotonic Disorders / psychology*
  • Myotonic Dystrophy / diagnostic imaging
  • Myotonic Dystrophy / physiopathology*
  • Myotonic Dystrophy / psychology*
  • Neuropsychological Tests
  • Occipital Lobe / diagnostic imaging
  • Occipital Lobe / physiopathology
  • Parietal Lobe / diagnostic imaging
  • Parietal Lobe / physiopathology
  • Personality Disorders / diagnostic imaging
  • Personality Disorders / etiology*
  • Personality Disorders / physiopathology
  • Tomography, Emission-Computed, Single-Photon