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Genetics > Myotonic dystrophy > Flashcards

Myotonic dystrophy Flashcards

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Biology 101 flashcards
1
Q

Pattern of transmission and incidence

A

Autosomal dominant with genetic anticipation

1 in 7500

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2
Q

Symptoms

A

progressive muscle weakness in early adulthood (face, sternomastoids, distal limb muscles)

Myotonia- delay relaxation after contraction

Cataracts

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3
Q

Complications

A

Diabetes
Cardiac conduction defects
general anesthesia

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4
Q

Signs

A

Grip - cant release

eyes closed - cant open

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5
Q

Pathogenesis

A
  1. abnormal DMPK mrna
  2. indirect toxic effect of splicing of other genes
    Myotonia - CLCN1- chloride chanel
    Diabetes- splices insulin receptors
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6
Q

Anticipation

A

> 50 repeats = affected

increase chance of expansion when transmitted by females

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7
Q

DM1

A

trinucleotide (CTG) repeat in the DMPK gene

Transcribed but untranslated (5UTR) region

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8
Q

DM2

A

Repeat of CCTG in ZNf9 gene

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Genetics (12 decks)

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