Anyone dealing with Dystonia?

I have never heard of Light Chain Amyloidosis. Could you inform me about this because I've never heard of it. Plus what is Gelsolin? What is Cutis Laxa? "Loose Skin." You can teach me a lot. Thanks, Dorothy

@oakbourne First, I always welcome the questions about Amyloidosis. I have my own story on the Internet at https://bit.Ly/1w7j4j8 "Amyloid and Old Karl"
Free. It is an explanation and calendar when each of my symptoms has appeared. Then, the following abstract of Gelsolin is from Handbook of Clinical Neurology. There is a lot more at the Mayo search line under Amyloidosis, and Helsinki University Hospital, where Gelsolin apparently originated. 2013;115:659-81. doi: 10.1016/B978-0-444-52902-2.00039-4.
Hereditary gelsolin amyloidosis.
Kiuru-Enari S1, Haltia M.
Author information
Abstract
Hereditary gelsolin amyloidosis (HGA) is an autosomally dominantly inherited form of systemic amyloidosis, characterized mainly by cranial and sensory peripheral neuropathy, corneal lattice dystrophy, and cutis laxa. HGA, originally reported from Finland and now increasingly from other countries in Europe, North and South America, and Asia, may still be underdiagnosed worldwide. It is the first and so-far only known disorder caused by a gelsolin gene defect, namely a G654A or G654T mutation. Gelsolin is a principal actin-modulating protein, implicated in multiple biological processes, also in the nervous system, e.g. axonal transport, myelination, neurite outgrowth, and neuroprotection. The gelsolin gene defect causes expression of variant gelsolin, followed by systemic deposition of gelsolin amyloid (AGel) in HGA patients and even other consequences on the metabolism and function of gelsolin. In HGA, specific therapy is not yet available but correct diagnosis enables adequate symptomatic treatment which decisively improves the quality of life in these patients. A transgenic murine model of HGA expressing AGel is available, in anticipation of new treatment options targeted toward this slowly progressive but devastating amyloidosis. Present and future lessons learned from HGA may be applicable even in diagnosis and treatment of other hereditary and sporadic amyloidoses.

KEYWORDS:
Meretoja's disease; amyloid angiopathy; corneal lattice dystrophy; cutis laxa (loose skin, especially on the face); facial palsy; familial amyloid polyneuropathy IV; gelsolin; gelsolin amyloidosis; hereditary amyloidosis; peripheral neuropathy

PMID: 23931809 DOI: 10.1016/B978-0-444-52902-2.00039-4
There is a lot more. Two inexpensive and good books are Amyloidosis by Dr. Kee, and Heart Like Cement (or Cement Heart-- I can never remember) I think by Clement.Ask more when you are ready.

@ Oakbourne My Dystonia hit this week. I am nearly voiceless at the moment. But I knew it was coming in my Gelsolin.

I had Selective Denervation and received relief. That was back in 2000. Dr. Arce is the GURU for this operation and it saved my life. I nearly choked on Shredded Wheat that expands in your throat once it touches milk. Without my husband, I would've choked to death and my pain has decreased.

Hi Oldkarl, this is an amazing disorder. I have never heard of this. Are there pictures of this disease on the internet? I'm Amazed! Why do so many neurological diseases originate in Northern European countries? Do you have a support group? Do you have a good neurologist? Any pain, pulling or involuntary movements?

@oakbourne Hi, Oak. Yes there are many pictures on the internet, especially through Mayo-MN, NIK, Boston Amy, etc. Some of the best stuff is the video selection from Martha Grogan at Mayo-MN. As for why Northern Europe, I suspect it had to do with the Vikings who roamed the world picking up diseases and taking them home or to other lands. Actually, this is my support group. There is another set of support groups, but they are pretty snooty about who they let in. And I do not have a neurologist. The clinic system I have to use (Samaritan) refuses to admit there is such a disease. Lots of pain, organ failures, skin issues, bone, tendon and muscle issues, particularly nerve issues, eyes, heart, lungs, kidneys, bladder, prostate, urethra, RA, dental, cracked teeth. https://bit.Ly/1w7j4j8 Amyloid and Old Karl

Does Botox not work? I built up antibodies on Botox. The Medical College of GA, gave me too much in too short a time. Have you tried Myoblock? It helps, but Botox is better. I take Klonopin and the doctor is pushing Artane on me. She won't increase Klonopin and I'm not getting a therapeutic dosage. Artane does not help...it makes me shaky! All I need is shakiness when I'm already shaky. Remember, doctors get paid for pushing Pharma Drugs. Hospitals and doctors get BIG BUCKS for pushing drugs from Pharma Companies. Be Warned.

Hi indren77, I was wondering, what is LDN? I've dealt with this monster all my life. I've had Selective Denervation performed by Dr. Arce, the best! It has saved my life, literally. It's given me almost 20 years of relief. Plus Klonopin is my answer. I can't live without it, but when you get these young neurologists who think they know everything, creates a BIG PROBLEM! They think they know it all. I've lived with this monster all my life, have a support group, attend symposiums, I'm a RN and the young neurologists don't care to hear what I have to say. Don't they realize they learn from their patients? I THINK NOT! I've even given them Dystonia, Inc and DMRF magazines and they treat them like trash. What is medical school teaching these young doctors who know nothing! They don't want to give you Klonopin for treatment. I get way lower the therapeutic dosage. I fired her and she was so childish that she wrote and fired me. I fired her first!!!!! Many young neurologists don't feel comfortable in their own skin and act CHILDISH! Medicine is failing us!

One thing to keep in mind, if they are pushing Artane on you like they tried to push Artane on me, they are getting paid BIG BUCKS by the pharma companies. I've heard doctors and hospitals make more money from Pharma Companies than practicing medicine. America, our medical system has failed us. It's become corrupt!.

@oakbourne I'm with you. A few years ago I was living in Las Vegas and started having serious pain from tailbone to eyes, started out from dead protein hereditary Gelsolin white matter deposits in the brain and other nerves, I guess now. Anyway, a young neurologist, probably just out of junior high, put me on a cocktail of stuff that made my lunch chef salad seem like nothing. Anyway,After a week I fell several times one day, and he accused me of not taking the cocktail. So I did quit taking it, and did much better.