Parkinsonism at age 28 but complex history - any ideas?

[jgh548]

I hope you can help.

I started seeking neurological help in 2006 after around 8 years of escalating symptoms that became impossible to ignore. A brief history:

Childhood - a slightly unusual stiff gait led to my seeing an orthopedic specialist who found no physical abnormality whatsoever. It was suggested that I suffered from flat feet and this was corrected with insoles. The slightly awkward gait remained however, although evidently not in sufficiently severe form to prompt any further investigation.

Age 18 - started noticing a painful and stiff right shoulder when sitting for long periods of time in University lectures or similar. Found getting up from a kneeled or lying position a little harder than usual.

Age 20 - occasionally experienced sudden onset body tremors that would be cured by rest and a sugary drink. All blood sugar and diabetes tests came back normal.

Age 22 - noticed that my walking was slowing down and I felt an inertia when moving. Lots of fatigue out of proportion to activity. Regular dizziness, slow thought process at times and sluggishness.

Age 25 - began to notice a definite tremor in the right hand, both postural and rest. First spotted when trying to open a door - my hand shook as I reached for the handle. I then noticed that when holding a pen, my hand would wobble up and down on its own volition. My speech felt more laboured later in the day and I found myself less articulate than usual.

Age 26 - tremors becoming noticeable in right arm, neck and head, occasionally legs and sometimes lower back. Lots of little muscle tics and spasms. Some cramping, lots of joint pain and stiffness. Dragging legs and shuffling when walking. Tired feeling in vocal chords and occasional slightly slurred or mumbled speech.

I feared Parkinson's Disease and saw a specialist in April 2007. She recorded flexor plantar response (slightly brisk), no right arm swing when walking, slow manner of gait, intermittent and jerky right upper limb postural and rest tremor but no bradykinesia or cogwheel rigidity. She recommended a DATScan - this was completely normal with no degeneration of the dopamine transport system and normal stratial uptake of the tracer.

I have been trialled on Sinemet -62.5, one tablet three times daily and have an extremely good response. For 90% of the time, my symptoms are almost eliminated.

My neurologist is not seeing me again until later this year and has not diagnosed Parkinson's. I am assuming that Dopa-Responsive Dystonia is a more likely diagnosis given the evidence that there is no degeneration taking place. I also have a totally normal MRI scan result.

Can anyone give a hypothesis as to what the cause of my issues is?

Many thanks,

John

[ILADVOCATE]

Dystonia of this form is genetic from what my neurologist informed me. I was ruled out for this specific form but have some form of focal dystonia that was never diagnosed until recently and was exacerbated by specific medications I took. I was told if I had this specific form of dystonia that Sinemet would be helpful. You could google the "Dystonia Foundation" for more information.