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Category Archives: Ataxia

Regular “trespasser” cat has some disease – Video

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Regular "trespasser" cat has some disease
This cat is not mine, just regularly wander through the backyard. I made this video to show it to the local vet to find out what #39;s wrong and cure it, if it is possible. My guess based on relevant youtube videos and some searches is: cerebellar ataxia.From:dtg977Views:13 0ratingsTime:01:46More inPets Animals

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Regular "trespasser" cat has some disease - Video

Jeremy Kyle ‘Inspirational Children’ episode, Leo, Joubert Syndrome. – Video

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Jeremy Kyle #39;Inspirational Children #39; episode, Leo, Joubert Syndrome.
This is 4 year old Leo #39;s #39;Inspirational Children #39; episode of Jeremy Kyle, October 2012. Leo is registered blind, has ataxia and kidney problems. He is also extremely cute!!From:Hannah LakeViews:81 1ratingsTime:09:12More inComedy

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Jeremy Kyle 'Inspirational Children' episode, Leo, Joubert Syndrome. - Video

Leo’s Journey. 4 year old affected by Cep290. Joubert Syndrome. Lebers Congenital Amaurosis. – Video

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Leo #39;s Journey. 4 year old affected by Cep290. Joubert Syndrome. Lebers Congenital Amaurosis.
Meet Leo... He is a beautiful, clever, funny little boy. He is also registered blind, has ataxia and kidney problems all related to the Cep290 gene fault. This is his journey so far. See http://www.viskid.com or http://www.facebook.com/VisKidFoundationFrom:Hannah LakeViews:40 0ratingsTime:03:29More inPeople Blogs

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Leo's Journey. 4 year old affected by Cep290. Joubert Syndrome. Lebers Congenital Amaurosis. - Video

‘Ride 4 Avi’ motorcycle ride and fundraiser held in Summit on Sept. 23

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The Akian family of Summit will be hosting their third annual charitable fundraiser, Ride 4 Avi: A Tour to Cure on Sunday, Sept. 23, in honor of their 10-year-old son, Avedis; who is affected by an ultra rare, progressive disorder called ataxia telangiectasia (A-T).

The days activities include a state police escorted motorcycle ride followed by a Family Fun Day. Riders can register from 10-11 a.m. at the Knights of Columbus, Shunpike Road in Summit. Motorcyclists will enjoy a light continental breakfast followed by a 60-mile ride of some of New Jerseys most scenic countryside. The Family Fun Day will take place at the Knights of Columbus from noon3 p.m. Tax deductible donations are $20/rider, $10/adult, and $5/child.

Admission includes a BBQ lunch and live entertainment by the Mudbelly Blues Band. A la carte childrens activities include inflatables, face painting, art and crafts, raffles, fall-themed activities, carnival games and treats. All donations from the days events will benefit the A-T Childrens Project, a non-profit organization committed to funding first rate research centered around finding a life saving treatment or cure for A-T.

Avedis, a student at Jefferson School, was diagnosed with A-T in 2009 after a seemingly healthy early childhood. Ataxia Telangiectasia is a rare, genetic disease; that affects only 470 kids in the U.S. Children with A-T lack the ATM gene, which provides instructions for making A-T protein. The protein helps control the rate at which cells grow, divide and repair themselves after injury which is a daily occurrence. The ATM protein also plays an important role in regulating the nervous and immune systems. A-T, in and of itself is not a fatal disease, it is the consequences of the lack of protein that predispose the affected to life threatening cancers, compromised immune systems and atrophy of the cerebellum, that leads to overall loss of coordination. There is no known treatment or cure.

Children with A-T are usually unable to walk by the age of ten and slowly lose their abilities to control movements to read, write, speak, chew and swallow. Those with A-T maintain normal to above normal intelligence and are keenly aware that they are becoming trapped inside a body that no longer works. Although Avedis has significant disabilities on the exterior, he is like every other boy his age on the inside and enjoys boy scouts, roller coasters, playing Wii and watching classic cartoons. Avi would like to grow up to be a chef and own a motorcycle.

Due to the fact that research funds are limited, grassroots fundraising, like this event are essential to fund the private research that is being conducted on A-T, including a promising study done at Rutgers University that has shown the ability to stop the progression of the disease in mice. Avedis and his family have raised $30,000 over the past two years and are hoping to achieve $50,000 this year. For more information about the days activities log on to ride4avi.com.

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'Ride 4 Avi' motorcycle ride and fundraiser held in Summit on Sept. 23

To Your Good Health: Keloid is scar that won’t stop growing

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Question: I am a 26-year-old black woman. All through high school, I begged my mother to let me get my ears pierced. She said to wait until I graduated from college and was on my own. I did. On each ear, the piercing left a huge scar. The doctor called it a keloid. What are keloids and what is their treatment?

Answer: Keloids are scars that form far too much scar tissue. The result is an unsightly, overgrown and sometimes disfiguring scar. Scars from surgery, from an inadvertent cut and from procedures as innocuous as ear piercing can become keloids. People of Asian and African descent are particularly vulnerable to developing such scars.

I don't want to discourage you, but keloid treatment often involves a recurrence of a keloid scar. Plastic surgeons and dermatologists are the doctors to consult for possible correction.

I'll give you some examples of how keloids are treated:

One way is injecting them with potent cortisone drugs, such as triamcinolone. A good response occurs in 70 percent of patients, but the recurrence rate is also high.

Excision of the scar followed by triamcinolone injections into the newly healing tissues is another method.

Silicone gel sheeting can reduce the size of a keloid. The sheeting is cut to cover the keloid and is taped in place. It's left on the keloid for up to 24 hours, then washed and reapplied. The sheet is replaced about every two weeks.

Freezing the keloid,

Radiation after surgical excision is another way to remove keloids.

Use of a laser in combination with cortisone injections has its proponents.

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To Your Good Health: Keloid is scar that won't stop growing

Finding Parkinson’s clue offers unshakable hope

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Lorraine Ho

Friday, August 10, 2012

Hope may be stirring for those suffering from an incurable brain disease that causes loss of muscle control.

Spinocerebellar Ataxia affects the cerebellum - a small but key region of the brain - killing nerve cells and triggering genetic diseases, such as Parkinson's and Huntington's.

SCA patients may suffer tremors, gradually lose fine motor skills, and have trouble keeping their balance or coordinating daily movements.

But a team of Chinese University researchers may have an answer to their suffering - as they have found exactly how the disease is triggered.

Toxic ribonucleic acids cause deterioration of the small brain by disrupting the production of proteins called ribosomes - claims the team's findings, published in the US journal Proceedings of the National Academy of Sciences.

"The lack of ribosomes eventually causes programmed cell death ... and leads to the development of SCAs," lead researcher and CUHK School of Life Sciences associate professor Edwin Chan Ho-yin said.

"In theory, therefore, finding a way to revive ribosome supply in patients suffering from SCAs may help in treating the disease."

The territory currently has about 300 patients with symptoms of SCAs, Chan said. DNA tests have shown a third to be confirmed cases.

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Finding Parkinson's clue offers unshakable hope

Prayer for Mercy: Henderson family seeks a cure for 6-year-old’s unique condition

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Leila Navidi

Mercy Doyle, 6, visits with Tina Lindquist, the program director at Brain Balance Achievement Centers in Henderson on Wednesday, May 23, 2012. Doyle has been diagnosed with the rare neurological disorder Opsoclonus MyoclonusSyndrome.

By Conor Shine (contact)

Thursday, May 24, 2012 | 2 a.m.

Six-year-old Mercy Doyle is like a lot of girls her age.

She loves coloring, swimming and The Little Mermaid. She looks up to her big sister and finds her younger brother kind of annoying.

But to doctors in Nevada and around the country, Mercy is a medical mystery, a child with a unique set of symptoms theyve never seen before.

Mercys medical odyssey began seemingly overnight, her parents say, four years ago during a family vacation to the beach in California.

She kept falling in the sand. She couldnt run around. She was shaky. It was weird, said her father, Kevin Doyle, a worship pastor at Green Valley Christian Center.

Her family rushed back home to Henderson, where Mercy was diagnosed with a viral infection that was attacking her brain. After a few months, her condition seemed to be improving. Then her symptoms worsened again.

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Prayer for Mercy: Henderson family seeks a cure for 6-year-old's unique condition

Hunting Down My Son’s Killer [Medicine]

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I found my son's killer. It took three years. But we did it. I should clarify one point: my son is very much alive. Yet, my wife Cristina and I have been found responsible for his death.

My son Bertrand has a new genetic disorder. Patient 0. To find it, a team of scientists at Duke University used whole-exome sequencing (a protein-focused variant of whole-genome sequencing) on me, my wife and my son.

We discovered that my son inherited two different (thus-far-unique) mutations in the same genethe NGLY1 genewhich encodes the enzyme N-glycanase 1. Consequently, he cannot make this enzyme.

My son is the only human being known to lack this enzyme. Below, I'm documenting our journey to the unlikeliest of diagnoses. This is a story about the kind of hope that only science can provide. (An open access article in The Journal of Medical Genetics contains the detailed results from ground-breaking experiment that diagnosed him.)

Aside from severe jaundice, Bertrand was normal at birth. For two months, he developed normally. At three months, his development had slowed, but it was "within normal variations." By six months, he had little to no motor control. He seemed, as we described it, "jiggly." Something was wrong.

Bertrand was eight months old when he met with his developmental pediatrician for the first timejust after our move to Utah. I was at my first faculty retreat on the day of his exam, and after it let out, I found a flood of voicemail and text messages from my wife.

My heart jumped. The pediatrician thought Bertrand had brain damage, so she scheduled an MRI for the following week.

The MRI showed an apparently healthy, normal brain. So, his case was escalated to a pediatric neurologist. The neurologist confirmed that he had a movement disorder, but his presentation was "puzzling": he had neither characteristic chorea nor ataxia.

The neurologist ordered a round of bloodwork. This was the first of dozens of blood draws to come. (We now send Bertrand's "favorite" phlebotomists holiday cards.)

The lab results reported only one anomaly: extremely elevated alpha-fetoprotein (AFP) relative to what it should have been for his age.

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Hunting Down My Son's Killer [Medicine]

Veterinary Q&A: Outdoor plants and your pets

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Lilies are highly toxic to cats. It is safest to avoid all lilies -- both as cut flowers as part of a bouquet or as a garden plant.

Dr. Denise Petryk, an emergency medicine vet and co-owner of the Animal Emergency Clinic / Puget Sound Veterinary Referral Center in Tacoma, answers this week's question.

Answer: Spring in our Pacific Northwest is so beautiful. With a little careful planning, it is very easy to create a pet-safe garden. There are two main factors to consider when putting together our spring plantings:

-- Foxglove (Digitalis purpurea), pictured right -- vomiting, diarrhea, weakness, cardiac failure, death.

-- Japanese Yew (Taxus cuspidata) -- tremors, difficulty breathing, vomiting, seizures, death.

-- Jerusalem cherry (Solanum pseudocapsicum) -- vomiting, seizures, depression, trouble breathing.

-- Lily of the Valley (Convallaria majalis) -- vomiting, heart trouble, disorientation, coma, seizures.

-- Lily (Lilium species) -- kidney failure in cats -- ALL parts of the plant, even in small amounts.

-- Morning Glory (Ipomea sp.) -- vomiting, diarrhea, agitation, tremors, disorientation, ataxia, anorexia.

-- Nightshade (Atropa belladonna) -- drooling, vomiting, diarrhea, depression, slow heart, weakness.

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Veterinary Q&A: Outdoor plants and your pets

Ataxia Angel : Marguerite Black – Friedreich’s Ataxia – Video

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margueriteblack.blogspot.com A peek into the life of Marguerite Black, who suffers from Friedreich's Ataxia, an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. In severe cases, people become incapacitated

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Ataxia Angel : Marguerite Black - Friedreich's Ataxia - Video

10-Year-Old Blind Autistic Boy Sings “Open the Eyes of my Heart” – Video

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20-10-2011 07:30 Christopher Duffley is an amazing kid with an AMAZING God! Born premature, blind, and autistic, Christopher was adopted by his parents before they realized God has gifted this young fellow with the gift of music! This recording is from the 2011 "New Hampshire Night of Worship" celebration where over 1300 followers of Christ gathered to sing praises to Jesus Christ! Please visit Christopher's website at: duffley.com

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10-Year-Old Blind Autistic Boy Sings "Open the Eyes of my Heart" - Video

Jeremy Davidson on the Freidrich’s Ataxia Research Alliance – Video

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15-06-2011 09:58 "Army Wives" actor Jeremy Davidson (Chase Moran) and his fellow cast members share their passion for educating others on Freidrich's Ataxia (a rare neuromuscular disease) and the ongoing work of the Freidrich's Ataxia Research Alliance (FARA). Learn more at cureFA.org.

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Jeremy Davidson on the Freidrich's Ataxia Research Alliance - Video


  1. Ataxia