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DMD Case Ade Rhonaz 1

Apr 14, 2018

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    Department of Neurology RSMH Palembang

    Faculty of Medicine University of Sriwijaya

    1

    By:

    Ade Ramadhani, S.Ked

    Rhonaz Putra Agung, S.KedAdvisor: Dr. H. A. R. Toyo, Sp.S (K)

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    IDENTIFICATION

    Mr.A/11 years old/Male/Islam/

    Banyuasin/ August 28th 2010

    2

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    ANAMNESIS

    The patient was admitted to Neurologyward RSMH because of the weakness onboth leg which happened gradually

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    6 years before admitted to the hospital, patients was

    experiencing hard to stand in foot. accompanied by

    weakness in both legs, which becomes increasingly severe.

    The weakness between right leg and left leg was felt same.

    The patient can't move right leg and left leg was felt same at

    all. He could express his mind by talking, writing, giving sign

    and mentally health.

    4

    ANAMNESIS

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    3 years before admitted to thehospital, the symptoms still the same.The patient complained it is difficult to

    stands for both legs felt weak.weakness becomes increasinglysevere. Patient cant run and jumparound like a child commonly. The

    buttocks and thigh are weaker thanfoot and walking shouldguided.

    5

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    2 years before admitted patients can

    only lying and sitting on the floor, and

    both his knees hard to straightened.

    Patients need to be assisted when goingto the bathroom.

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    2 years before admitted bothshoulders and upper arms Start weak.

    7

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    ANAMNESIS

    6 months before admitted patient

    experiencing weaknes more severe and

    felt his muscular leg tinier.

    8

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    There are history of the same

    disease in family, getting common cold.

    No fever before. There's no history

    diabetes mellitus. And have delay ofdevelopment movement

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    ANAMNESIS

    This illness was the happened for the

    first time for him.

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    Growth History

    The patient was born spontaneously, aterm, andburst into tears.

    Patients started on his stomach four months of age,sitting at seven months, and is not accompaniedcrawl first, patients direct running at the age of 18

    months, ran at the age of two years, but frequentstops.

    When patients want to stand from a seated positionhave trouble standing straight with both handsholding the knee to climb his own legs.

    At the age of seven years unable to jump. Patientseasily dropped, if runs slow, Mental status and goodcommunication.

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    pedigree

    PATIENT

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    Physical Examination

    Generalis Status

    Sens : compos mentis

    (GCS=E4M6V5)

    Temp. : 36,8C

    Pulse : 100 x/minuteRespiratory rate : 20 x/minute

    Blood Pressure : 120/70 mmHg

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    Physical Examination

    Neurological Status

    Nn. Craniales

    No abnormality

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    Physical Examination

    Motorik Fungtion Arm Leg

    Right Left Right Left

    Motion Decrease Decrease Decrease Decrease

    Power 4 4 3 3

    Tonus Decrease Decrease Decrease Decrease

    Klonus - -

    Physiological R. Decrease Decrease Decrease Decrease

    Patological R. - - - -

    15

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    Physical Examination

    Sensorik function : no abnormality

    Vegetatif function : no abnormality

    Limbic function : no abnormalityMES : no

    Abnormal Movement : no

    Gait & Stability : not assesed yet

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    Laboratory Findings

    Blood ( August 28th 2010 )

    Hb, Ht, Leukosit, LED, Trombosit, Diff.count, BSS, HDL,

    LDL, Trigliserida, Cholestrol total, SGOT, SGPT,, Ureum,

    Creatinin, Protein Total, Albumin, Globulin, Na, K, Ca :

    normal.

    Uric Acid : 9,6 mg/dl( 3,5=7,1 ) increase.

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    Laboratory Findings

    Urine ( August 28th 2010): Normal

    Rontgen Thorax (August 28th 2010): normal

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    DIAGNOSIS

    Clinical diagnosis :Duchenne Muscular

    Dystrophy

    DD : - Gullian Barre Syndrome

    - Bekker Muscular Dysthrophy Topic diagnosis : Muscle

    Etiology diagnosis : X-linked genetik

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    MANAGEMENT Medicine :

    - IVFD NACl 0,9 % gtt xx/M- Vit B1B6B12 3x1 tab

    - Metilprednisolone 3x4 mg

    - diet porridge

    Planning: EMGmuscle biopsy

    Physiotherapy:- Bed positioning- Infra Red Radiation left side extremity

    - Bobath therapy

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    PROGNOSIS

    Quo ad vitam : dubia ad

    malam

    Quo ad functionam : dubia ad

    malam

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    CASE ANALYSIS

    Clinical diagnosis

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    Clinical diagnosis

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    1. Gullian Barre Syndrome,

    signs:

    In the patient, signs :

    - motoric deficit - motoric deficit

    - symptoms was found after

    infection- No infection was found

    - Happen in female and male- Only happen in male

    - No family history of same

    disease

    -Family history of same

    disease is present

    So, the possibility of Gullian Barre Syndrome can be excluded

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    24

    1. Bekker Muscular Distrophy

    , signs:

    In the patient, signs :

    - motoric deficit - motoric deficit

    - begin after age 5- begin after age 5

    - progressivity is slow- Progressive

    So, the possibility of Bekker Muscular Distrophy can be excluded.

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    25

    1. Duchenne Muscular

    Distrophy, signs:

    In the patient, signs :

    - motoric deficit - motoric deficit

    - progressive- progressive

    - begin before age 5- begin before age 5

    - Onset gradually- Onset gradually

    - Family history of same

    disease is present

    - Family history of same

    disease is present

    So, the possibility of Duchenne Muscular Distrophy can be made

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    Clinical Diagnosis

    Duchenne Muscular Distrophy

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    THANKS