Myotonic dystrophy type 1: neurological features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Myotonic dystrophy type 1: neurological features. Frontal balding, Ptosis, Hatchet face. Fully referenced neurology checklist.

Facial appearance

  • Frontal balding
  • Ptosis
  • Hatchet face
  • Carp mouth (tented upper lip): in congenital forms
  • Malocclusion: due to masseter wasting

Central features

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Peripheral muscle features

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Peripheral neuropathy (PN)

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Associated autoimmune disorders

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Myotonic crisis

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References

  1. Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. JNNP 2010; 81:358-367.
  2. Gagnon C, Noreau L, Moxley RT, et al. Towards an integrative approach to the management of myotonic dystrophy type 1. JNNP 2007; 78:800-806.
  3. Ropper AH, Brown RH. Principles of Neurology. Eighth edition. McGraw Hill New York 2005 p1221.
  4. Winblad S, Samuelsson L, Lindberg C, Meola G. Cognition in myotonic dystrophy type 1: a 5-year follow-up study. Eur J Neurol 2016; 23:1471-1476. 
  5. Winblad S, Lindberg C, Hansen S. Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1). Behav Brain Funct 2006; 2:16.
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