☝uncommon
☝AD dystrophy
☝triple repeat of MDPK gene
☝pathognomonic feature is failure of muscle relaxation after contraction.
✅Myotonic dystrophyOcular manifestation
☝bilateral ptosis
☝cataracts (Christmas tree cataracts or PSCC)
☝orbicularis oculi weakness
☝pigmentary retinopathy
• pattern dystrophy centrally
• reticular at mid-periphery
• atrophic far periphery
Myotonic dystrophySystemic 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).
✅Myotonic dystrophyInvestigations
☝DNA analysis: confirms diagnosis.
☝ECG: should be performed annually for conduction abnormalities.
✅Myotonic dystrophy Treatment
☝Multidisciplinary (neurologist , cardiologist , physiotherapist and speech therapy) .
☝cataract and ptosis precautious surgery (when symptomatic).
Myotonic dystrophyNB
☝General anaesthesia may unmask subclinical respiratory failure.
