atypical and cognitive symptoms, affected copper metabolism, maybe unusal genetic disorder
Hello…So I (40 yo) am new here and seem to have some parkinsonism but not typical PD.
First my motor symptoms: It has started with gradual loss of right arm swing but normal muscle tone some weeks after quitting smoking. MRI was normal, it then progressed to some generalized slowness on both sides, still normal muscle tone at rest but getting stiff with action, internal resting tremor and postural tremor on right side
Then the left arm swing was lost too and some postural reflexes (can`t get out of a chair without holding onto something without being pushed back), luckily still no falls but steady progress over the past 6 years, sometimes there is freezing but more of a visual type of freezing…
And this is where the atypical story begins…Family history of mild cognitive impairment, Alzheimers, sleeping disorders, generalized anxiety and uncategorized psychiatric issues starting in 2 family members in their 50-60 with a very slow progression…My case: ADHD child, diffuse brain symptoms like mood swings, paranoid overthinking, frequent derealisation/dejavue, OCD and sleeping disorders…progressing to dizziness and panic attacks…progressing to visual memory impairment, mild problems judging distances and loss of mental flexibility at the end of my 20ies.
Then I was checked for Wilsons disease and indeed my ceruloplasmin level was low (at 15 mg/dl) but in the end I definitely did not have Wilsons disease. All other blood and MRIs normal…
Then after stopping smoking at early 30ies I developed the diffuse motor symptoms.
Some few years later visual illusions (brief misperceptions of things and sometimes also very brief mini hallucinations) came into my life. They usually come and go in frequent and more seldom waves and luckily stay mild until now.
MRI was negative again.
Now I am struggeling with worsening motor symptoms (my fine motor skills are generally better than my gross motor skills), worsening task sequencing and progressing failure in managing the houshold both physically and cognitively (but the cognitive factor is worse) and worsening distance judiging.
I now have to concentrate a lot on movement and vision, especially on visual processing…No doctor seems to really want to diagnose or treat this…Is there anyone else atypical, maybe also young and with similar constellations like low ceruloplasmin or other weird issues?
So have a nice day despite all this creepy stuff
