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Home Ophthalmology

Myotonic dystrophy

Dr.Reda Gomah El Garia by Dr.Reda Gomah El Garia
September 3, 2018
in Ophthalmology
313 6
0
Myotonic dystrophy

Myotonic dystrophy

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1 ✅Myotonic dystrophy Ocular manifestation
2 Myotonic dystrophy Systemic manifestation
3 ✅Myotonic dystrophy Investigations
4 ✅ Myotonic dystrophy Treatment
5 Myotonic dystrophy NB

☝uncommon

☝ 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)

☝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 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.

Myotonic dystrophy
Myotonic dystrophy
Dr.Reda Gomah El Garia

Dr.Reda Gomah El Garia

Consultant Ophthalmologist at MALAZ MEDICAL GROUP

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