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ML dx in an adopted and previously healthy 30 yr pt with 4 mo of occasional facial grimacing and twitching of the R hand (disguished by using it to smoothing hair), atrophy of cau nucleus, depressed mood, mild psychomotor retardation, difficult concentrating at work as a desk worker, no medication, unknown biologic fam. hx who is able to perform serial 7™s with one mistake and recall 2 out of 3 objects after 5 min?
1. Parkinson™s dis
2. MS
3. Huntington™s dis
4. Wilson™s dis
5. ALS
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4. Huntington, Defect in chromosome 4.. tandem repeat, anticipation, atrophy of the caudate nucleus
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yes huntigtons disease choromosome four/ dementia /cgg tandem repeat / caudate lobe atrophy and pt die at early 40 or 50 /sucide risk is very high/ there is anticipation in each generation/can present with speech problem and dancing movement in addition to above mentoned picture
parkinsonism will present with rigidity tremor brady kinesia mask like facies and shuffling gait and movement decreses tremor and depression also--this age is too early unless PCP is abised
multiple sclerosis can present in this age but with multiple other feature seperated by time and space and with tremorr scanning sppeech nystagmus incontinence optic neuritis para aethseias and numbness and it is commoner in female.
wilson s disease is hepatolenticula degeneration--with keyser flisher ring --the grayish coppr collar ring appearing in early 20 and basal ganglia involvement so trmor and liver involvement causing early cirrosis--
als--- both extremities lmn and umn lesion also called lou gehring disese after a baseball player who died because of it in --and characterized by eventual respiratory problem needing intubation
