Spinocerebellar Degeneration

you should watch 1 litre of tears, it is japanese drama

Hello, my name is Angela. I was recently diagnosed and share s similar history as your wife. I live in Madison, a few miles North of Greensboro.

I SHARE YOUR PROBLEM AND WAS DIAGNOSISED 4 YEARS AGO. INTERESTING ABOUT THE IVIGG TREATMENT AT MAYO. HOW LONG HAS SHE BEEN ON IT AND HOW DOES IT HELP HER? SO FAR NOTHING HAS HELPED ME. JIM

Hi,

My name is Liz and I'm 21, and my father died of Spinocerebellar Degeneration. He was in a wheelchair for as long as I could remember, then over the course of about 7-8 years he lost the ability to move, eat, talk, and eventually he couldn't even hold his head up so he would constantly drool if in a sitted position. He was on tons of medication for all the symptoms and lived to be 67. The disease is cruel and most of my uncles are now going down the same path. My three brother and I haven't been tested yet but  my speech has started to slur a lot and I'm starting to have some difficulty with my left arm. Both could be totally unrelated, but does anyone know the chances of getting the disease through inheritance? I didn't meet my grandparents so I don't know how it got in the family.

hi, my name is Aya and I'm 21 from Indonesia, and I was diagnosed with SCD a few weeks ago. I'm a college student and I was really shocked because before I have watched the 1 Litre of Tears drama, and knowing the disease from it and my own research through the internet, I've to admit I feel really afraid. Firstly I was often felt imbalanced when I was walking, and sometimes I fell down with no reasons when I was walking and there was nothing in my way anyway.  I also found that it's hard to walk or to move my hands, and people staring at me because my funny way when I'm walking. If you have felt any of these, it's kindly for you to meet a doctor, and get treatments ASAP.

Greetings everyone:

I origininally posted the following 4 years ago. I am really dismayed by the gloom and doom posts before and after my posts based on the Japanese tv series. When I first got my diagnosis all I could find was info on Fredrichs Ataxia which usually begins in childhood and can develop symptoms quickly. Everybody's case is different. I have outlived my doctor's prognosis of being bedridden years ago. For those of you who are falling asleep during the day get a sleep study and pulmonary function done while lying down because our breathing muscles get weak too. A BiPAP machine at night has given me my energy and memory back. Nothing wrong with the brain or intelligence just anyone not getting deep enough sleep at night will get temporarily forgetful. Read the following for hope and treatments to ask your neurologist about.
"My name is Haneefa. I am 53 years old. I will tell you my story. But first I want to say that there are over 20 different types of spinocerebellar degeneration from mild to severe. So everyone does not end up in a wheelchair or with a shortened life. What is mostly written on the internet and in most medical textbooks is only one type of SCD and that is Freidrich's Ataxia which begins in childhood. I am very happy to find this forum today because since it is a rare disease, there is not much information available and I have felt so so lonely!

My neurologist diagnosed me with spinocerebellar degeneration in 2003 after four years of going from doctor to doctor and three neurologists who basically told me my symptoms were in my head. He noticed that my spinal cord was thin in my neck near the base of my brain. At first he had diagnosed me with primary progressive MS because I went from walking 2 miles a day, to using a walker to being in a motorized wheelchair in four years. The main symptoms began in 1999 when I had difficulty walking up curb cuts or getting over the hump in the middle of the street (basically any inclines. Then it went to a difficulty climbing stairs because I do not feel the placement of my lower legs and feet. One day, my legs gave out but I didn't fall, I just used my walker to drag my legs along until I could find a place to sit down. I asked the first neurologist for a wheelchair which at first he said that he would give to me if I promised to keep walking! And then he decided not to give it to me! Part of the problem of it taking a long time to get a diagnosis, was that I did not know at the time that I was heat sensitive. Meaning that all of my muscles get weak when I'm overheated or overtired. Doctors' offices are air conditioned so I could walk the 300 feet in the hallway with little difficulty. Actually, I still walk but as others in the forum here have written, the pain and fatigue can be awlful. Montel Williams said he has burning pain 24/7 that almost drove him to commit suicide. So do I, and I do not know how I get out of bed every morning, other than the pain is worst laying in bed and trying to sleep. If I stay busy there is distraction from the pain. Just sheer willpower, as someone else in the forum mentioned. My neurologist said most of my symptoms will be like MS but I do not have MS. With MS there is using problems with memory and there are attacks and deteriation. He said my condition has stablized and even gotten better. He has been very good to me providing me with baclofen which helps my walking, writing, speaking, swallowing and using my arms to feed myself because otherwise they would jerk too much. He also ordered a sleep study test and treated me for sleep apnea which greatly improved my memory. I also take Provigil which helps alot with energy and alertness otherwise I would nap most of the day. He also okayed a customized wheelchair which has allowed my independence -- -- my own apartment, going to college and hopefully returning to work. Anyway, as someone else said living a full life. There is hope and help available when you find a doctor who really cares. He and my primary care doctor pulled together a team of specialists for me.

I have worked on healing myself emotionally, physically and spiritually. I had vitamin and mineral deficiencies such as Vitamins D and B-12, potassium and magnesium for which I take supplements. I use homeopathic remedies. Looking back, I had symptoms as a child always falling, often having to stay home because I would fall on the back of my head. But this stopped when I was 7 years old the only exception was a friend teased me for not picking up my feet when I was in high school. I also got shin splints with running. Never having a sit down job, I would get fatigued easily and it took me longer than my co-workers to complete tasks. From 1994 I began having severe chest pain but tests only showed an abnormal rhythm here and there. One symptom of Freidrich's Ataxia can be heart problems over time, but can also precede the other symptoms. In 1997, I has spells of losing control of my bladder and briefly with climbing stairs but then these symptoms went away. I was even walking walking 4 hours up and down hills in Africa without problems until late 1998 when the chest pain and difficulty climbing stairs returned where my legs felt very heavy half the way up the stairs."
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I have sca for last 3 years and i am 45 now. I am working and my Question is my symptoms worsen with exertion especially driving a car.Anyone knows whether driving should be stopped or it is OK to continue driving
Avninder SINGH

There are several different types of Spinocerebellar Ataxia - please do not make light of this condition particularly when time is not yours to control. Those that have it suffer daily. As well as for those who watch healthy active love ones deteriorate. My husband was diagnosed with it last year and the progression is far from what I would consider slow.

May I ask. .what is the first pop up on your brain when you notice that you have a spinocerebellar ataxia or degeneration? ? I know this disease has no cure. . It is a uncurable disease that when you have this disease you are suffering unconditionally movement. like you are not capable of walking, speaking even on eating. .when you are eating sometimes you experience choking and when you have this disease some of having this has a pneumonia. I watched a movie titled 1 litre of tears, its a movie that the girl has this disease and she is a 15 yrs old when she knows. She died when she is 25 yrs old only. anyone know this movie?? actually im super curious about this disease because not just the cause or effect but the uncurable matter that makes me sad about this. 

I have four family memebers who suffer from this. Two brothers and two sisters. My brothers began in their very early 20's. My oldest brother was actually diagnosed as having MS, but when my younger brother began having the same symptoms more test were ran. MY sisters did not have any symptoms until their 30's, but now they are all in wheelchairs. The oldest is 56. There is nothing to be done. They have seen many neurologist, but with little or no help. There just isn't much to know about this horrible disease. Interesting enough, All the ones in my family who have it are the ones with the dark hair and dark eyes. There are seven children in my family. The three of us that were born with blonde hair and blue eyes do not have any symptoms. I pray that one day they will find something to at least help them. I oldest brother gets choked at times. Very scary.

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Hey guys please stay stay strong I know you'll feel real down hopeless and such but remember stay positive no matter what happens ill be praying for you guys Im studyin. Hard and . Would like to go into the medical industry to find cures for cases like you guys and also cancer if Im Able to. Please hang on stay positive and stay strong . I know I don't have the right to say it as I'm younger then most of you im 14 and I don't have it but I just wanted to give you some hope . Pray to God if you feel lost talk to your bestfriends boyfriends girlfriends doctors anyone you can trust you'll feel MUCH MUCH better stay strong god bless. Regards Rena (Singapore)

spinocerebellar degeneration :Spinocerebellar ataxia (SCA) is a progressive, degenerative,[1] genetic disease with multiple types, each of which could be considered a disease in its own right. An estimated 150,000 people in the United States are diagnosed with Ataxia. SCA's are the largest group of this hereditary, progressive, degenerative and often fatal neurodegenerative disorder. There is no known effective treatment or cure. Ataxia can affect anyone of any age. It is caused by either a recessive or dominant gene. Many times people are not aware that they carry the ataxia gene until they have children who begin to show signs of having the disorder.[2]

Classification

There have been up to 60 different types of SCA identified (most are found on autopsy) as there is no one test that can tell if an individual has SCA or what type it is. Many are misdiagnosed or go years without knowing the exact type. In 2008 there was a ataxia genetic blood test developed to test for 12 of these many types. This test for the most common hereditary types of Ataxia which include, Friedreich's ataxia, SCA 1,3,8 and a few more. However in the SCA group, with so many different types, most go with a diagnosis of SCA unidentified or unknown. Usually the diagnosis comes after examination by a neurologist, which includes a physical exam, family history, MRI scanning of the brain and spine, and spinal tap.[3]

The following is a list of some, not all, types of Spinocerebellar ataxia. The first ataxia gene was identified in 1993 for a dominantly inherited type. It was called “Spinocerebellar ataxia type 1" (SCA1). Subsequently, as additional dominant genes were found they were called SCA2, SCA3, etc. Usually, the "type" number of "SCA" refers to the order in which the gene was found. At this time, there are at least 29 different gene mutations which have been found (not all listed).

Many SCAs below fall under the category of polyglutamine diseases, which are caused when a disease-associated protein (i.e. ataxin-1, ataxin-3, etc.) contains a glutamine repeat beyond a certain threshold. In most dominant polyglutamine diseases, the glutamine repeat threshold is approximately 35, except for SCA3 which is beyond 50. Polyglutamine diseases are also known as "CAG Triplet Repeat Disorders" because CAG is the codon which codes for the amino acid glutamine. Many prefer to refer to these also as polyQ diseases since "Q" is the one-letter reference for glutamine.

Be strong bernetta!

watch 1liter of tears and you will know about that. its a terrible disease with no cure