Select a Community
Are you sure you want to trigger topic in your Anconeus AI algorithm?
You are done for today with this topic.
Would you like to start learning session with this topic items scheduled for future?
A mutation in ATP7B on chromosome 13 is responsible
8%
4/49
Erythema marginatum is a complication associated with this disease
2%
1/49
Overactivity of dopamine in the mesolimbic pathway is the underlying pathology
Underactivity of dopamine in the nigrostriatal cortex is the underlying pathology
12%
6/49
It demonstrates anticipation
67%
33/49
Select Answer to see Preferred Response
The phenomenon of anticipation refers to the tendency for clinical symptoms to worsen and/or occur earlier in subsequent generations of people with certain genetic diseases. This patient is presenting with key findings of Huntington's disease including hemiballimus and personality changes which demonstrates anticipation via CAG repeats on chromosome 4. Certain genetic diseases demonstrate anticipation, increased severity, and earlier onset of clinical symptoms in successive generations. The diseases exhibiting the phenomenon of anticipation include the trinucleotide repeat expansion diseases such as Huntington's disease, Myotonic Dystrophy, Friedreich's ataxia, and Fragile X syndrome. Anticipation is caused by the progressive increase in trinucleotide repeats in each successive generation, thereby causing increased genetic disruption and increased symptom severity. Illustration A graphically demonstrates the phenomenon of anticipation with increasing symptoms severity and earlier onset with progressive generations. Illustration B demonstrates the CAG trinucleotide repeat seen in Huntington's disease. Incorrect Answers: Answer 1: A mutation in ATP7B on chromosome 13 represents Wilson's disease which presents with Kayser Fleischer rings, cirrhosis, personality changes and a movement disorder (much like this disorder) but does not demonstrate anticipation as is seen in this patient. Answer 2: Joint pain, O-carditis, erythema marginatum and Syndenham's chorea are classic findings seen in rheumatic fever and represent major JONES criteria. Answer 3: Overactivity of dopamine in the mesolimibic pathway is the proposed underlying pathophysiology in schizophrenia or in tic disorders (including Tourette's). The motor tics could be present in this patient, the history is more suggestive of Huntington's. Answer 4: Underactivity of dopamine in the nigrostriatal cortex is the proposed pathophysiology in Parkinson's disease which presents with bradykinesia, hypomimia, a slow, shuffling gait and cogwheel rigidity.
4.0
(8)
Please Login to add comment