☝ AD dystrophy
☝ triple repeat of MDPK gene
☝pathognomonic feature is failure of muscle relaxation after contraction.
✅Myotonic dystrophy Ocular 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 dystrophy Systemic manifestation
☝mournful facies ( miserably sad)
☝muscle weakness with delayed relaxation (myotonic grip)
☝cardiomyopathy and conduction abnormalities (may lead to fatal cardiac failure).
✅Myotonic dystrophy Investigations
☝ 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 dystrophy NB
☝General anaesthesia may unmask subclinical respiratory failure.