#Cerebellar Abiotrophy
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Happy birthday, Elara and Rupert!🥳 Elara turned 8 on 7th August, and Rupert turned 13 on 22nd August!🥹
#Elara#Rupert#australian kelpie#kelpie#dingo dog#dingo hybrid#rescue dogs#cerebellar abiotrophy#photography#dog photography#australia#portrait#red dog
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After several months I’ve finally received Duncan’s necropsy report. I’m so thankful for everyone who donated to allow me to get Duncan to the neurologist. As well as thankful to UW Madison for making the entire experience as painless as possible.
“I apologize for the delayed communication. The results of Duncan's finalized necropsy results have returned. I attached the full report for you, if you would like to read through it. Multiple neuropathologists were consulted on his case, due to the abnormalities found.
Your sweet little man had degenerative conditions as the cause for his signs.
The first noted change was cerebellar abiotrophy. This is different than cerebellar hypoplasia. Cerebellar hypoplasia occurs when an animal is born with a smaller than normal cerebellum, and they generally do not have any progressive cerebellar type signs. However, cerebellar abiotrophy is a degenerative condition where animals are born with a normal sized cerebellum, and then with time and age, it degenerates, with the normal cells of the cerebellum dying off and the cerebellum as a whole becoming smaller. Cerebellum abiotrophy is not a terribly common entity in cats.
The second change that was noted was degenerative changes to his spinal cord. In combination with the degenerative changes to his cerebellum, he had what is termed spinocerebellar degeneration. This is just an umbrella term for both degenerative changes to his cerebellum and spinal cord.
While we do not know the exact underlying cause as to why Duncan had these degenerative changes to his cerebellum and spinal cord, it could have been due to a storage disease, from an infection in utero, or secondary to a genetic mutation that he was born with. No matter the underlying cause, with time and age, his signs would have absolutely continued to progress in severity.
While I know the decision was not an easy one for you, I think you did the most selfless thing by considering Duncan's quality of life and euthanizing him.
I also wanted to thank you for allowing us to perform a necropsy on him, and for us to learn more about this condition.”
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**Sorry in advance for how long this is, and sorry if I went off topic a bit! I could talk about this kind of thing all day haha.
I used to have an ethically bred Belgian Shepherd Groenendael, who I sadly had to rehome due to my older dog not getting along with him, and I’m super passionate about dog breeding and genetics so I know a fair bit about this! I think the best place to start is to understand what you should expect from an ethical breeder, a breed can only be as good as the breeders allow it to be, so keep your standards for breeders high. An ethical breeder will be registered with ANKC/Dogs Australia, Dogz Online is a good place to find ANKC registered breeders.
You’ll want to ensure any particular breeder’s dogs are health tested, the specifics of the health tests will vary from breed to breed but it’s an absolute must when selecting an ethical breeder. No health testing = unethical. At an absolute minimum I would expect the parents to be fully DNA tested and hip scored, but the more tests the breeder does and the more thorough they are (eg; also test elbows, eyes, heart, thyroid, etc), the better. It’s a good idea to educate yourself about the breed(s) you’re interested in to ensure you know what breed specific conditions they may have, and ensure the breeders you’re interested in are testing for them. ANKC generally require testing through Orivet, but Orivet don’t actually test for all breed specific conditions. For example: Cerebellar Abiotrophy (CA) can now be tested for in Australian Kelpies but it must be done through a specific research lab, so a Kelpie breeder who only does Orivet DNA testing isn’t sufficient. Not many Kelpie breeders currently test their dogs for CA (show line breeders seem to be better for it though), and as it’s a recessive condition it can be carried for generations and then pop up “out of nowhere”. My (rescue) dog has the mild variant of CA and it’s awful, I would never risk buying a Kelpie puppy from a breeder who doesn’t test for this condition in addition to standard DNA testing.
Their dogs should be earning titles in the show ring, this shows that the dogs are meeting the breed standard in terms of conformation and temperament, and it shows that they are comfortable and confident in a busy and overstimulating environment. If the breeder also competes in dog sports like agility, etc, that’s a good sign too. I highly recommend you attend dog shows if possible to meet some of the breeds/dogs you’re interested in, it’s a great way to observe the dogs’ behaviour and temperament, and find out if they’re the right fit for you. It can also be good to explore pedigrees and research the lines you might end up being interested in, this way you can see how the dogs in particular lines have performed over time.
Ideally your selected breeder should be using Puppy Culture and Early Neurological Stimulation (ENS) methods when raising their litters, these methods and techniques are so beneficial to a puppy’s development that I personally wouldn’t buy a puppy from a breeder who doesn’t use them. Ask for photos or videos too, it’s very easy for a breeder to just say “yes, I do this” so make sure that they can provide evidence of it being done.
Ethical breeders should also have a good reason for producing each litter they have, and they should be able to give you a satisfactory answer if you ask what the reason for any particular mating/litter is. This is where your concerns around healthy litter =/= healthy gene pool should be answered, because a good ethical breeder is breeding with the benefit of the entire breed in mind.
An ethical breeder won’t have puppies available all the time, if they do it’s a red flag. You should generally expect to be waiting a while for a puppy, not all breeders have waiting lists (some breeds are less popular than others), but it’s not uncommon to be put on a waiting list once you’re approved by the breeder as suitable for a puppy.
I know this is a lot (I could write so much more!) and it might make the process seem daunting, but it’s absolutely worth all the effort to get a well bred dog.
Question about dog breeding/breeds, if you’re ok with answering:
I’m a would-be dog owner, never had one before, and I really want to get a companion dog from a breeder/group that is ethical and aims to produce healthy litters, but… I also understand that healthy litter =/= healthy gene pool, and it would be great to support breeding efforts that promote the welfare of the breed as a whole rather than the specific animals they sell. How the HECK do I identify breeders that promote ethical breeding for both healthy animals and population diversity? (I live in Australia, not sure if that makes this harder to answer or not)
(I mean ideally I’d adopt a rescue but there are pros and cons to that and, as a newbie, I’m not going to take on an animal I can’t adequately care for. And also I can never find rescue dogs of the breeds that work for my lifestyle)
So I don't know Australia as well as some other folks (@farm-paws?), but I do know that the best way to figure this out is to find out where breeders are talking to one another and listen to the things they say. The second best thing to do is to just ask breeders producing dogs you like: how do you breed with an eye towards producing the dogs you want, and how do you breed with an eye towards making the whole breed better?
The thing about this question is that there's lots of ways to answer it, but how a breeder answers that question given your breed's context will help you figure out how much they're thinking about each. And it does mean thinking very clearly about things you value. Any person trying to achieve a goal with limited resources, which describes many passionate breeders, is going to have to make trade offs based on resource limits. Increase the genetic diversity of the population as a whole, or win big at a given sport?
Let me get you some examples under the cut.
Here are a couple of examples of what I think of as pretty nice kennels I would be happy to consider approaching for a dog, if they bred dogs of a type I currently want to own and I wanted another dog. (Some do, some don't, and I won't have space in the inn for several years yet anyway.) They are unfortunately American--without knowing your breed of choice it's hard to figure out how to navigate the Australian scene--but most of the tips should carry over okay. Because Dog Culture can sometimes be really black and white and mistake cultural markers for meaningful ethical distinctions, I'm going to try and share a wide range of perspectives, orientations, and viewpoints here from breeders who think about long term breed improvement.
Wayout ACDs: This post on the importance of collecting and storing semen from older, sometimes long dead dogs is a great green flag that this breeder thinks deeply about the long term future of the whole population--especially given her emphasis on these older dogs who might not have contributed heavily to the gene pool in their younger, living days. Collected semen from old dogs who aren't closely related to younger dogs can be a great way to help broaden and revitalize a larger population.
Border City Bullies, coming from a breed with a relatively low incidence of health testing and some big cultural variations, has a ton of resources available on how health testing works, what to do about it, and how to responsibly move forward even if a dog fails a test. The breeder here clearly feels very strongly about teaching and encouraging other American Bully breeders to start monitoring longer term health as a breeding goal and fostering a community of breeders who want to work with each other to make the dogs healthier. I love this approach. Especially when population bottlenecks are not a major problem but health monitoring is, building a better breed community is also a signal of someone who is thinking about their breed over the very long term.
Woodpont Beagles. I really like this breeder as an example of someone who keeps his dogs differently to mine, but who has firm standards for their comfort and care nevertheless. I also admire this breeder's ability to assess two "camps" in his breed that don't communicate much and do his best to take the best from each perspective. Finally I really like the emphasis on the successes and failures of breeders from the past: a good vision for the future often includes a deep knowledge about how we got to the present.
The Functional Dog Collective is probably a good place to check on, even if it's heavily North America based; my understanding/experience is that while there is certainly a lot of disagreement within the broader community of breeders, that's a spot where anyone with an interest in long term breeding for health in particular is going to pop up. The Institute for Canine Biology is another good place to look around for people in your breed of choice who are broadly interested in evidence-based approaches to more healthy breeding, too.
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i've seen a viral video about a puppy with cerebellar hypoplasia, and i realized i don't know much about it. i knew a cat that had it, and he had a good life. have you seen it in a patient? and if so, what are some of the usual complications it causes?
Your cerebellum is primarily responsible for the fine tuning of motor movement. In short, without it all a creature’s movements are exaggerated, and they will find themselves without delicate movement, grace or dexterity, but they can still move around. Their movements are often described as being like those of a thunderbird or a drunk puppet, and as my neurology lecturer said, “If it makes you laugh, it’s a cerebellar issue.”
Cerebellar hypoplasia in itself is not painful, though affected animals will not quire live a ‘normal’ life and need certain allowances made for them. Non-slip floors and bowls for example, and you can’t realistically expect to take one swimming. The condition in itself is not painful, and if the animal is not too severely affected it can still have a great life.
(Initially I wondered if my cat Wonka had a degree of cerebellar hypoplasia as a kitten, but as an adult he looks more like a bilateral vestibular syndrome.)
Typically cerebellar hypoplasia occurs secondary to a viral infection in the pregnant dog or cat at critical stages of development, but using a live vaccine in a pregnant animal can potentially cause this too.
There is some difficulty in distinguishing between cases of cerebellar hypoplasia, where animals are basically born this way but don’t get worse over their lives, and cerebellar abiotrophy, where they’re born fairly normal but get steadily worse over time as the cerebellum atrophies. Abiotrophy is thought to be genetic in certain breeds of dogs, and affected dogs will eventually be euthanised when their ability to function and do doggy things is too reduced. It’s a degenerative condition, and it doesn’t respond to medication.
Now, from a single video I can’t tell whether a pup had cerebellar hypoplasia or cerebellar abiotrophy. Sure, a brain scan might tell you, but so will time.
Cerebellar hypoplasia’s main complications are to do with being accident prone: falling off things, dragging feet, etc. They’re often a little leaner in body condition because physically handling food to eat canbe difficult, and some benefit from different textures of food (larger or smaller chunks, for example). A lot of them don’t chew very well either so need some dental care, but to be fair so to the majority of pets at least once in their lifetime.
It’s a really interesting condition, but with the widespread use of modern vaccines it’s also relatively rare.
#veterinarian#vetblr#neurology#cerebellar hypoplasia#cerebellar abiotrophy#cerebellum#doctorrichardstrand
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Cerebellar disease
CS = ataxia, hypermetria, intention tremor, vestibular signs (contralateral head tilt with nystagmus - phase phase towards the lesion), absent menace. The animal will be clumsy but have no proprioceptive deficits.
Cerebellar hypoplasia = kittens born to queen infected with panleukopaenia virus - disease does not progress. may be due to neospora or toxplasma infection, or inflammatory disease (GME or cerebellitis), choroid plexus tumour or vascular infarct. Disease is usually intracranial.
Assymmetric signs = tumour or infarct. Diffuse = abiotrophy or cerebellitis. juvenile onset = hypolasia or metabolic disorder. Adult onset = tumour or infarct. Acute disease = cerebellitis or infarct. Static disease (no progression of clinical signs) = cerebellitis or infarct.
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My disabled little girl being weird and sleeping under a flamingo. She has cerebellar abiotrophy but is the happiest dog.
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Cerebellar Abiotrophy genetic neurological disorder effecting several breeds of horse. It effects physical coordination of the animal, putting it at risk of injury.
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Diseases
Today I want to talk about diseases your horse can obtain in the game.
What kind of diseases exist on MDR? On MDR there are several acute and chronic diseases. Acute diseases can be treated by a vet, and are typically not fatal so long as they are regularly medicated. Chronic diseases can be either genetic or obtained diseases, and both are unable to be treated.
Genetic diseases are passed on from parents to their offspring. Some are inherited as a dominant trait others as a recessive trait, which decides how the disease will play out in a horse’s life. If the disease is dominant, just one allele of the disease is enough to make a horse ill. An inherited recessive requires two alleles to make the horse sick, meaning both parents must carry the allele. Horses with only one recessive allele may be entirely healthy but may pass the disease on to their offspring. Most genetic diseases are inherited recessive.
Some genetic diseases allow a horse to live but present certain disadvantages in competitions or the daily life. Others may lead to a stillborn foal.
The second version of a chronic disease is an obtained disease. These may develop due to bad care and training on a player’s part for their horse. These horses may need special treatment and medication, and may cause a handicap in competition.
What means “Carrier” and what do I need to consider? Carriers are horses that may carry the gene for a disease but do not actually show symptoms of the disease itself. Horses such as this carry the gene recessively, meaning they only carry one allele of the disease, preventing them from being sick. Carriers have no disadvantage in competition or breeding shows over horses which are free of genetic disease, and do not need other treatment. However, take care not to breed two carriers who have the same genetic disease, for the produced offspring may carry the disease homozygos and become very ill or even die.
What is CA? CA stands for “cerebellar abiotrophy”. It is a neurologic disease, where more or less neurological errors can appear (i.e. disturbance of equilibrium). Affected horses can live with the disease but shouldn’t be entered in competitions or strenuous activity. This genetic disease is inherited recessive.
What is HERDA? HERDA stands for “Hereditary equine regional dermal asthenia”. The skin of affected horses is extremely sensitive and prone to building up scar tissue, leaving the horses covered in it. Horses with this disease are viable but must be treated with utmost care. This genetic disease is inherited recessive.
What is PSSM? PSSM stands for “Polysaccharid storage myopathy”. This disease causes horses to retain too much glucose within their body. Symptoms include lameness, muscle stiffness and aversion to movement. These symptoms often appear after 10-20 minutes of light work. Affected horses are viable. This genetic disease is inherited dominant.
What is EMH? EMH stand for “Equine malignant hyperthermia”. Diseased horses suffer from muscle cramps and cardiac arrhythmia. However, the horses are viable. This genetic disease is inherited dominant.
What is ASD? ASD stand for “Segment Dysgenesis“. It is a eye disease where cysts can build up on the eye. The horses are viable but their vision is strongly affected. This genetic disease is inherited recessive.
What is HYPP? HYPP stands for “Hyperkalemic periodic paralysis”. The symptoms of HYPP are muscle cramps and fatigue. The disease becomes visible in the form of sporadic attacks. Between the attacks, the horses seem to be completely normal. The affected horses are viable. This genetic disease is inherited dominant.
What is LFS? LFS stands for “Lavender foal syndrome”. The foals have neurologic perturbances and cramps and cannot stand on their own. They die shortly after birth. This genetic disease is inherited recessive.
What is SCID? SCID stands for “Severe combined immuno-deficiency“. The newborn foals are missing two kinds of lymphocytes. Therefore, they have practically no immune defense and die within a few days from diseases such as diarrhea or pneumonia. This genetic disease is inherited recessive.
What is GBED? GBED stands for “Glycogen branching enzyme deficiency “. These foals are missing a vital enzyme and typically die from a heart disease a few days after birth. In most cases they are typically stillborn. This genetic disease is inherited recessive.
What is JEB? JEB stands for “Junctional epidermolysis bullosa“. Foals suffering from JEB lose skin from their body, and their hooves typically dissolve from the corium. Foals born with JEB die shortly after birth. This genetic disease is inherited recessive.
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Progressive Neuronal Abiotrophy (PNA)
PNA is a genetic disorder known as premature death of neurons due to stop of metabolic processes necessary for their life and functioning. It mostly occurs in cerebellum and is known as Cerebellar Abiotrophy (CA). In histological post-mortem examination the most touched by the disease are Purkinje neurons. It's important to add that animal appears normal after birth.
Symptoms in dogs and cats:
problems with head balance,
abnormal stiff or high gait,
problems with standing in the right position,
wide- based stance,
problems with proprioception,
in some cases other brain region instead of cerebellum may be affected. It may result in changes of behaviour (f.e.agression, forgetting of the home training),
seizures,tremors,
blindness in some cases,
first symptoms several months after birth,
the most vulnerable breeds are: Kerry Blue Terriers, Gordon Setters, Rough Haired Collies,Labrador Retrievers, Poodles,Beagles,Old English Sheepdogs.
Symptoms in horses:
difficulties rising from reclining position,
tremors of head and other parts of the body,
wide-based stance,
(other similar as in dogs)
first symptoms around one to six months after birth,
the most vulnerable breeds are: Arabian Horses, Gotland Ponies, Mininature Horses, Oldenburgs.
Symptoms in Holstein Friesian cattle:
Horner's Syndrome,
hyperextension of the neck with the ears put back,
squint,
lack of defensive reflex,
occur around 3-8 months after birth.
(Stiff and high gait - horse with CA ;photo above)
(Cat's brain 1a:normal cerebellum, 1b;medium CA,1c;severe CA)
#cerebellar abiotrophy#progressive neuronal abiotrophy#veterinary medicine#veterinary#neurology#vet#arabian horse
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Mel, a pitbull with cerebellar abiotrophy, regains mobility in a cart by Eddie's Wheels (by Leslie Grinnell)
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Cerebellar Abiotrophy in Arabian filly
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Rainy day Kelpies :)
#Rupert#Elara#Kelpie#Australian Kelpie#Dogs#photography#dog photography#puddles#Autumn#Australia#Cerebellar Abiotrophy#kelpies of tumblr#dogs of tumblr#animals
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Sleepy besties🥹
#Rupert#elara#australian kelpie#kelpie#kelpies of tumblr#kelpies#cerebellar Abiotrophy#rescue dogs#photography#dog photography#australia#dogs of tumblr
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I miss when it was warm enough for the dogs to go for a swim, it’s so cold in NSW at the moment😭
#australian kelpie#kelpie#photography#dog photography#australia#rupert#elara#cerebellar abiotrophy#portrait#rescue dog#kelpies of tumblr#kelpie cross dingo#dingo dog#winter
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his little smile is so cute😭
#Rupert#elara#australian kelpie#photography#dog photography#kelpie#australia#cerebellar abiotrophy#portrait#rescue dog#frisbee#autumn#red dog#red kelpie
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