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#11 | |||
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Senior Member
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Quote:
With LRRK2, you must have a relative with PD. Not so with autorecessive forms of juvenile PD. From Pub Med LRRK2-related Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of slowly progressive asymmetric tremor at rest and/or bradykinesia, cog-wheel muscle rigidity, postural instability and gait abnormalities including festination and freezing. Non-motor symptoms in LRRK2-related PD occur with the same frequency as observed for typical idiopathic PD. Onset is typically after age 50 years. The diagnosis of parkin type of juvenile Parkinson disease is considered primarily in individuals with early-onset parkinsonism (age <40 years), particularly if autosomal recessive inheritance is suspected. PARK2, the gene encoding the protein parkin, is the only gene known to be associated with parkin type of juvenile Parkinson disease |
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#12 | ||
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Senior Member
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Would tend to agree with Laura, though I know it is somewhat difficult in the UK unless you have the means to go private. However you are able to go to your GP and ask to be referred to someone else for a second opinion.
I am still surprised that this was offered as an explanation of your PD like symptoms. I have been diagnosed, sort of, with question marks because my symptoms are a little atypical, for 8 years, and had a grandparent who had PD that appeared at roughly the same age as mine did, and my neuro has been very sceptical of categorizing it at all. Did you have a DatScan done? Lindy |
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#13 | ||
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Junior Member
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I live in the UK, and I understand a movement disorder specialist here is a neurologist with a specialised interest in movement disorders of which PD is regarded to be one although we know it involves much more. My neurologist was described this way when I first looked him up but when I tried to doublecheck this actual phrase was not used but a more "technical" word which seemed to me to mean the same thing.
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#14 | ||
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Senior Member
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Hi Paddy,
Usually in the UK neurologists do follow their specialisms but within the framework of general neurology. I guess it is a matter of degree, as in the US an MDS is more focused on movement disorders as a specific cetegory of neurology. Noticed you are in the Midlands, and thought I would say hello ![]() Lindy |
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#15 | |||
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Senior Member
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Trixiedee,
Maybe this diagram will help explain how the faulty genes are passed along... This is the clearest explanation for non-med people I've ever seen. Maybe this will alleviate some of your worries for your childrens' sake: http://www.genetics.com.au/factsheet/fs46.asp This is a really comprehensive overview on PD in younger adults, http://emedicine.medscape.com/article/1154474-overview |
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"Thanks for this!" says: |
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#16 | ||
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Junior Member
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Hi Lindy Lanka,
Thanks for your hello - I live in Northants. Can't see how to do "smilies" on this site although it says mine are on |
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#17 | ||
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#18 | ||
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Senior Member
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Regardless of the origins of PD syptoms and lack of dopamine, mostly the treatments are the same, until, if ever they differentiate into other more definable conditions.
The big deal is finding a treatment modality that give you the best quality of life that you can have............ and that can vary quite widely depending on where you are with it, and what you respond to. This forum is a testament to that. Making sure, as Harley's posts always said, you have PD but it hasn't got you... Take care Lindy ![]() |
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#19 | ||
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Senior Member
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Laura,
I just have to say this, you are a wonder! The information you find and get to us all is amazing... Many thanks Lindy |
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"Thanks for this!" says: | Conductor71 (04-01-2011) |
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#20 | ||
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Junior Member
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I don't know what qualifications an "MDS specialist" in the US has but we certainly have
neurologists with a special interest in movements disorders and I made sure that the neurologist I was referred to was such a neuro as I indicated in my last post (disappeared) A quote from Kings College Hospital website in London:- King’s Movement Disorders is an accredited international centre of excellence. We offer a comprehensive service able to diagnose these disorders with the use of specialised investigations and offer the full range of modern treatments (eg duodopa infusion and deep brain stimulation). Consultant neurologists with a special interest in movement disorders have the support of a large multi disciplinary team of,physiotherapists, speech and language therapists, occupational therapists, specialist nurses, neuropsychiatrists and neuropsychologists. |
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