Murphy's Story

Murphy was born May 23, 1994. When he came to us, he
seemed normal in every way but at 7 months of age we
discovered he had luxating patellas (slipping kneecaps).
Still, something more seemed wrong with his movement. He
tripped and fell when running, especialy when making
sharp turns. Eventually, he began having difficulty with stairs
and developed a somewhat wide-based stance. His knees
were surgically repaired at age 2, but instead of improving,
his condition worsened.

As years passed, Murphy had more difficulty controlling his
movements and also developed an intention tremor. He
required help with stairs, fell more often and eventually needed
support to stabilize him while he ate and drank. He was seen
by several vets over the years but no one could pinpoint his
problem other than to say it was probably neurological in nature.

I read that Gordon Setters suffered from a condition known as
Cerebellar Ataxia (CA). The description fit Murphy's symptoms
perfectly, however, my vet could not confirm it as nothing was
published about this disease in the Scottish Terrier breed.

In June 2000, when Murphy was 6 years old, I happened to receive a complimentary issue of the "Scottie Scamper," a Canadian publication. In the issue was an article by Carole Fry Owen, author and breeder, titled "Health Search/ Health Share," that immediately caught my eye. Part of Carole's article discussed Cerebellar Ataxia in Old English Sheepdogs, but more important to me was a statement saying Dr. George Padgett had made a guesstimate that 13% of Scotties carried the recessive gene for ataxia, a primary symptom of this disorder. To find out more, I contacted the editor of the "Old English Sheepdog Times," who sent me the 1998 issue that included articles about CA in Sheepdogs as well as the e-mail address of Dr. Jerold Bell, a veterinary geneticist from Tufts University who was working on this disease in several breeds.

I wrote to Dr. Bell about Murphy's long standing symptoms that were slowly getting worse and he responded, along
with Dr. Alexander de Lahunta, a renowned veterinary neurologist from Cornell University, who had seen a Scottie with this disorder in the past. After reviewing Murphy's history, videos and results from an MRI, both doctors concluded that Murphy had Cerebellar Abiotrophy.

Cerebellar Ataxia appears in the list of diseases identified in our STCA health survey of 1995. It is a degenerative neurological condition which affects the gait. Ataxia means wobbly. The "Guesstimate" made by the genetic consultant Dr. George Padgett for carrier frequency of cerebellar ataxia in the Scottish Terrier is 13%, meaning that 13% of the Scotties carry this recessive gene. To compare, craniomandibular osteopathy (CMO) had a "Guesstimated" carrier rate of only 4.7% on the 1995 Survey.

Thanks again to Nancy Xander for sharing this series on cerebellar ataxia which appeared in the Old English Sheepdog club of America's Old English Times, December 1998, pages 34-35. Though the articles do not mention Scotties, they are helpful to Scottish Terrier owners who want to learn more about cerebellar ataxia and be inspired by how one breed club is working to control this difficult disease.

One of the articles is titled "From Ecstasy to Despair with a New Puppy, a Story of CA in a Young OES." Two others are written by clinical veterinary geneticist Dr. Jerold S. Bell, who is assisting Old English sheepdog breeders in controlling the spread of the disease. Dr. Bell's discussion of the use of "closest common ancestor analysis" is helpful to any breed club trying to determine the breadth of the breeding population that is at risk for being carriers of any recessive disease gene. Dr. Bell's article "Identifying and controlling Defective Genes: Knowing How is the First Step in Tackling the Problem" also is reprinted from the July 1993, AKC Gazette. To inquire about copies of the series, contact Old English Times editor Vicki Michael, 919 NM 49th St. Vancouver WA 98663-1710; phone 360-694-4398 or e-mail kmich65582@aol.com

After spending years searching for a diagnosis, I finally had one and was very hopeful that something would be available to help Murphy, but sadly, Dr. Bell informed me that no treatment existed for this disease. Cerebellar Abiotrophy was, however, a newly described disorder in the Scottish Terrier and Dr. Bell explained that the disease needed to be "worked up" and reported. Many owners, veterinarians, and neurologists were unaware of its presence and as a first step, he felt it important to document the disease in the breed. He indicated he was willing to work with the Scottish Terrier Club of America to look into this disorder.

I contacted several people in the STCA to alert them to Dr. Bell's interest and the one who responded was Carole Fry Owen, the very person who authored the Health Search/Health Share article about Cerebellar Ataxia in Sheepdogs. Carole, an STCA-HTF Trustee at that time, wrote to Dr. Bell and eventually convinced the STCA to accept his proposal to investigate this disorder. The STCA-HTF retained Dr. Bell in May 2001.

Murphy's symptoms continued to progress. Eventually he could no longer walk on his own without the support of a
harness (pictured below) but he remained a happy dog despite his disability. He ate well and fully enjoyed his life,
treats and daily walks. Murphy passed away May 13, 2005. He will forever be in my heart.

In January 2005, the AKC Canine Health Foundation approved Grant # 407; The Genetics of Canine Cerebellar Abiotrophy. This research, led by Dr. Natasha Olby at North Carolina State University, is presently underway. They are looking into four breeds with CA who have similar disease presentation; The American Staffordshire Terrier, Old English Sheepdog, Scottish Terrier and Gordon Setter. The researchers hope to find the mutation responsible for this disease and develop a genetic test so future Scotties (and other breeds) will one day be free of this degenerative condition.