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    Neurology Case 2

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    muhammadridhwan
    Mr. GK, a 32-year-old pianist, presented with progressive difficulty playing the piano and frequent tripping over the past 18 months. Examination revealed wasting of hand and foot muscles and a characteristic facial appearance. He had a family history consistent with autosomal dominant inheritance of a "muscle weakness" condition. The diagnosis was myotonic dystrophy type 1, confirmed by genetic testing showing a CTG trinucleotide repeat expansion.

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    Neurology Case 2

    Uploaded by

    muhammadridhwan
    38 views3 pages
    Mr. GK, a 32-year-old pianist, presented with progressive difficulty playing the piano and frequent tripping over the past 18 months. Examination revealed wasting of hand and foot muscles and a characteristic facial appearance. He had a family history consistent with autosomal dominant inheritance of a "muscle weakness" condition. The diagnosis was myotonic dystrophy type 1, confirmed by genetic testing showing a CTG trinucleotide repeat expansion.

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    Mr. GK, a 32-year-old pianist, presented with progressive difficulty playing the piano and frequent tripping over the past 18 months. Examination revealed wasting of hand and foot muscles and a characteristic facial appearance. He had a family history consistent with autosomal dominant inheritance of a "muscle weakness" condition. The diagnosis was myotonic dystrophy type 1, confirmed by genetic testing showing a CTG trinucleotide repeat expansion.

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    © All Rights Reserved
    Download as DOC, PDF, TXT or read online from Scribd
    Download as doc, pdf, or txt
    38 views3 pages

    Neurology Case 2

    Uploaded by

    muhammadridhwan
    Mr. GK, a 32-year-old pianist, presented with progressive difficulty playing the piano and frequent tripping over the past 18 months. Examination revealed wasting of hand and foot muscles and a characteristic facial appearance. He had a family history consistent with autosomal dominant inheritance of a "muscle weakness" condition. The diagnosis was myotonic dystrophy type 1, confirmed by genetic testing showing a CTG trinucleotide repeat expansion.

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    © All Rights Reserved
    Download as DOC, PDF, TXT or read online from Scribd
    Download as doc, pdf, or txt
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    Neurology TOSCE 2

    Mr GK is a 32 yo pianist who presented to his GP reporting progressive difficulty with


    his piano playing over the previous 18 months. He also noted clumsiness while walking,
    frequently tripping over steps when climbing the stairs. While shaking his hand by way of
    introduction, the GP noticed that Mr GK held his grip for a long time. On examination
    there was evidence of wasting of the intrinsic muscles of the hands and a bilateral foot
    drop. He had a characteristic facies (see picture below).

    GK reported a family history of muscle weakness which mapped out as follows.

    GK

    Comment on GKs appearance from the above photo.


    Frontal balding
    Long thin face
    Sunken Cheeks-wasting of masseter muscles
    Temporalis wasting
    Bilateral Ptosis
    Describe the inheritance pattern above:
    Autosomal Dominant inheritance: affected individuals in 3 successive generations. Each
    affected individual has only one affected parent.

    What is the diagnosis?


    Myotonic Dystrophy (Type 1)

    What clinical feature of this disorder did the GP elicit on shaking GKs hand?
    Grip myotonia

    What is the pathophysiological basis for this disease?


    CTG Trinucleotide repeat expansion on dystrophia myotonica protein kinase gene

    On further questioning GK revealed that his father developed muscle problems in his
    50s and his grandmother reportedly had no difficulty with muscle weakness until she was
    an elderly lady.

    What phenomenon does this pattern suggest?


    Anticipation

    List 3 associated features of this disorder:


    Cataracts
    Cardiac Conduction Defects-1stDegAVB, BBB
    Hypogammaglobulinaemia
    Infertility
    DM (Insulin Resistance)
    Smooth muscle involvement: GIT: IBS like symptoms (bloating, abdo cramps, altered
    bowel habit)
    Neuropathy (in 46%)

    How is this condition diagnosed?


    Diagnosis is clinical: +ve FHx, premature frontal balding, long thin face, bilat ptosis,
    sunken cheeks.
    DM1; genetic testing: CTG repeat on DMPK gene
    DM2: genetic testing: CCTG repeat on ZNF9 gene

    What investigations are of use in this case?


    EMG: myotonia
    Slit-lamp exam: post subcapsular cataracts
    Muscle bx
    ECG-BBB
    CK mildly elevated but not good for diagnosis
    IgG, IgM low

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