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Thread: Myotonic dystrophy capsule

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    Default Myotonic dystrophy capsule

    Myotonic dystrophy capsule



    ✍️ uncommon
    ✍️ AD dystrophy
    ✍️ triple repeat of MDPK gene
    ✍️ pathognomonic feature is failure of muscle relaxation after contraction.( myotonic ✊ grip ) to check ask patient to shake hands

    Myotonic dystrophy capsule attachment.php?attachmentid=3466&d=1513497705

    Ocular manifestation :

    ✍️ 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).

    Investigations

    ✍️ DNA analysis: confirms diagnosis.
    ✍️ ECG: should be performed annually for conduction abnormalities.

    Treatment:

    ✍️ Multidisciplinary (neurologist , cardiologist , physiotherapist and speech therapist ) .
    ✍️ cataract and ptosis precautious surgery (when symptomatic).

    NB ☝️☝️☝️☝️☝️

    ✍️ General anaesthesia may unmask subclinical respiratory failure.











    Attached Images  
    Last edited by Reda Gomah El Garia; 12-17-2017 at 08:02 AM.

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