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28th February 2024
A 32-year-old woman has attended the GP practice with an ongoing unilateral tremor
A 32-year-old woman has attended the GP practice with an ongoing unilateral tremor and dysarthria on assessment in the clinic. She did not have any ataxia. She is mildly jaundiced on examination, but no organomegaly was felt on the abdominal examination.
Blood tests were performed, and the results were as follows:
| Test | Value | Normal Range |
|---|---|---|
| ALT | 100 | 0-33 U/L |
| AST | 150 | 1-45 U/L |
| ALP | 90 | 30-130 U/L |
| Bilirubin | 70 | 0-21 U/L |
She is keen to start a family with her partner but worries that her child may develop a similar condition. Her partner does not have the genetic mutation on testing.
Given the clinical history, how likely will her children be affected by a similar condition?
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