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  • Case 1 Huntingtons Disease

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    Raymund Dan Aldaba
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    A 30-year-old married female teacher presented with progressive chorea and dementia. She underwent several tests that showed she had an autosomal dominant inherited disorder. She was diagnosed with Huntington's disease, which is caused by an expansion of a CAG trinucleotide repeat in the huntingtin gene on chromosome 4. This results in an imbalance of neurotransmitters in the basal ganglia like dopamine, acetylcholine, and GABA, leading to symptoms of involuntary movements (chorea) and cognitive decline (dementia).

    Original Description:

    HUNTINGTON'S DISEASE

    Original Title

    Case 1 huntingtons disease

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    A 30-year-old married female teacher presented with progressive chorea and dementia. She underwent several tests that showed she had an autosomal dominant inherited disorder. She was diagnosed with Huntington's disease, which is caused by an expansion of a CAG trinucleotide repeat in the huntingtin gene on chromosome 4. This results in an imbalance of neurotransmitters in the basal ganglia like dopamine, acetylcholine, and GABA, leading to symptoms of involuntary movements (chorea) and cognitive decline (dementia).

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    12 views5 pages

    Case 1 Huntingtons Disease

    Uploaded by

    Raymund Dan Aldaba
    A 30-year-old married female teacher presented with progressive chorea and dementia. She underwent several tests that showed she had an autosomal dominant inherited disorder. She was diagnosed with Huntington's disease, which is caused by an expansion of a CAG trinucleotide repeat in the huntingtin gene on chromosome 4. This results in an imbalance of neurotransmitters in the basal ganglia like dopamine, acetylcholine, and GABA, leading to symptoms of involuntary movements (chorea) and cognitive decline (dementia).

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    of 5

    Case 1

    PATIENT PROFILE:
    30-YEAR OLD MARRIED FEMALE TEACHER
    PRESENTED WITH PROGRESSIVE CHOREA AND
    DEMENTIA
    UNDERWENT SEVERAL TESTS:
    AUTOSOMAL DOMINANT INHERITED
    DISORDER
    Question 1

    What is the diagnosis? Explain the


    pathophysiology of the condition.
    Patient’s Diagnosis:

    Huntington’s disease
    Patient’s manifestation Symptoms of huntington’s disease

    Chorea Involuntary jerking or writhing movements (chorea)

    Dementia Decline in memory or other thinking skills


    (Dementia)

    Autosomal dominant inherited disorder expansion of a Expansion of a CAG trinucleotide repeat of the
    CAG trinucleotide repeat that encodes for a huntingtin gene on chromosome 4.
    polyglutamine tract.
    Pathophysiology

     Huntington’s disease is an autosomal dominant inherited disorder


     Huntingtin gene on chromosome 4 (4p16.3). (expansion of a CAG trinucleotide
    repeat that codes for a polyglutamine tract)
     Which causes an imbalance in the neurotransmitter in the basal ganglia
     Increase dopamine activity
     Reduced acetylcholine
     Reduced GABA
    Pathophysiology

    Chorea and dementia and


    other nuerological
    symptoms of Huntington’s
    disease

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