Myotonic Dystrophy: Systemic and Ocular manifestations, Investigation, and treatment

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Myotonic Dystrophy Systemic and Ocular manifestations, Investigation, and treatment

Myotonic dystrophy

Myotonic dystrophy:

  • Uncommon
  • AD dystrophy
  • A triple repeat  of MDPK gene
  • The pathognomonic feature is the failure of muscle relaxation after contraction.( Myotonic grip ). 
  • To check, ask the patient to shake hands

Ocular Manifestations :

  • Bilateral ptosis
  • Cataracts (Christmas tree cataracts or PSCC)
  • Orbicularis oculi weakness
  • Pigmentary retinopathy (pattern dystrophy centrally, reticular at mid-periphery, and atrophic far periphery)

Systemic Manifestation :

  • Mournful facies (miserably sad)
  • Dysphasia
  • Dysphagia
  • Muscle weakness with delayed relaxation (myotonic grip)
  • Testicular atrophy
  • Frontal baldness
  • Dropped IQ
  • Cardiomyopathy and conduction abnormalities (May lead to fatal cardiac failure).


  • DNA Analysis: confirms the diagnosis.
  • ECG: Should be performed annually for conduction abnormalities.


  • Multidisciplinary (Neurologist, Cardiologist, Physiotherapist and Speech therapist). Cataract and Ptosis precautious surgery (when symptomatic).


“General anaesthesia may unmask sub-clinical respiratory failure”.                           

About the author: Dr Reda is a consultant ophthalmologist in Egypt. 

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