Puppies without esophageal paralysis

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Regularly puppies are born with a condition called Congenital Idiopathic Megaesophagus (CIM), meaning a paralyzed esophagus. The term idiopathic states the problem; there is no known cause for this condition.

Affected puppies will have difficulty eating when transitioning from milk to solid food. These puppies are at a serious risk for fatal complications like aspiration pneumonia, and have to eat in a specially made chair, a Baileychair, to avoid choking on their food.

There is no cure for CIM. Feeding these dogs softened food and letting them sit in an upright position while and for a time after eating, helps them live with the disease, but the risks of choking remains. CIM occurs sporadically in various breeds, but seems to occur more often in the Swiss White Shepherd, (Old) German Shepherd and Irish Setter.

Better screening and knowledge about the disease

It is initially important to know more about the condition itself to be able to recognize the condition in a puppy as early as possible. Additional research is also needed to characterize the different degrees of esophageal abnormalities. We want to develop better screening methods to describe and characterize the different gradations of the disease at an earlier age so treatment can start promptly.

It is necessary to do additional research such as autopsies on puppies that had to be euthanized due to this condition, to understand what is going on in the esophagus at tissue level. Also, the course of the development of the esophagus in puppies has to be followed through swallow films at different age intervals. This falls outside the standard of care for this research, but can be done ethically because the screening for this disease is not very stressful or impactful for the dog.

Targeted breeding policy and DNA test

We do know that CIM is a hereditary disorder. By collecting DNA samples, we will be able to carry out additional research with the aim to develop a DNA test, and thus provide a more targeted breeding policy. As part of our research, we must therefore store DNA from puppies with esophageal paralysis and carry out the genetic tests.

Your contribution makes it possible!

Approximately € 50.000 is needed to perform these studies. Every contribution, big or small, will help to combat this disorder.

Can we count on your help? Together we can make a difference!

Call for patients

Are you a breeder or owner of a dog with esophageal paralysis? Or do you want to have your pupies or adult dogs screened for esophageal mobility disorders? Please contact us and we can have a swallow film made at the University Clinic (Clinical Sciences for Companion Animals).
This will also be a valuable contribution to this research.

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Update 2022 - 2023: 'Preventing hereditary oesophageal dysmotility' 01-08-2023 | 09:16 Thanks to the support of Friends of Veterinary Medicine donors and partners, the research team has succeeded in screening animals and collecting DNA, bringing us one step closer to the goal of getting a decrease in this nasty disease. In this annual update, we take you through the developments made possible by everyone who supports this project.Three White Swiss Shepherd pups are frolicking about in a treatment room at the Expertise Centre Genetics of the Faculty of Veterinary Medicine. The pups are here to investigate the function of their oesophagus. Unfortunately White Swiss Shepherds, are prone to Congenital Idiopathic Megaoesophagus (CIM), also known as oesophageal paralysis. The Latin name literally means congenital (innate) idiopathic (no known cause) mega (big) and oesophagus. The name also characterises the condition accurately: paralysis causes the oesophagus to be open and lose its function. Congenital Idiopathic Megaoesophagus (CIM) Affected pups start having trouble eating in the first weeks of life, during the transition from milk to solid food. They are at risk of serious and possibly fatal complications and have to eat upright to prevent food accidently going into the trachea, causing severe aspiration pneumonia. CIM is seen sporadically in various breeds, but has an above-average occurrence among certain breeds such as the White Swiss Shepherd, German Shepherd, and the Irish Setter. “For this project, we were contacted by breeders of White Swiss Shepherd dogs, who indicated that theirpups were prone to congenital megaoesophagus,” says Dr. Hille Fieten, Coordinator of the Expertise Centre Genetics. “These pups regurgitate food. The first question we then ask ourselves is: is it a hereditary condition? If it occurs more often than we see in the general dog population, we know there is a hereditary cause. . We then started making swallowing studies of the parent animals and the littermates of pups with congenital megaoesophagus. This is how we found out that the parent animals also showed a disturbed oesophagus motility in some cases. The dogs didn't have full paralysis of the oesophagus, but we did see that the function of the oesophagus was highly disrupted and that food accumulated in the oesophagus. It was an unexpected discovery that there are a fair number of dogs with mild to seriously aberrant oesophagus motility. This is why we started to further investigate the DNA of the affected animals and the parent animals.” Gaining more knowledge about CIM The project has multiple goals. The first is to gain more insight into the variations of the symptoms and the development of the condition, such as whether or not the oesophagus motility can still improve in the dogs' first year of life. A second goal is to make a detailed chart of how often the condition occurs, how it is passed on and how breeders can reduce the occurrence of the condition by means of screening potential parent animals and select parents accordingly. “Thirdly, we want to identify genetic markers associated with the condition by means of a Genome Wide Association Study, GWAS for short,” Hille Fieten explains. “Our fourth goal is to identify and validate the causal mutations, and we eventually want to develop a DNA test breeders can use to prevent the birth of pups with congenital megaoesophagus. In 2022, we added another goal: we want to investigate whether or not the mutation in MCHR2, which has been found in German Shepherds previously, has a predicting value for having congenital megaoesophagus or oesophageal dysmotility in our study population. If this is the case, this mutation can possibly be used as a DNA test by the breeder to reduce the likelihood of pups with congenital megaoesophagus. Finally, we want to use the gained knowledge to support breeders in preventing more pups with this condition from being born.” Swallow studies By late 2021, swallow studies had been made of 53 dogs. Between January 2022 and February 2022, 66 dogs were provided for swallow studies or, if they had oesophagus paralysis, for X-Ray photos. Scoring of swallow studies was further standardised in 2022. Fieten says: “Every dog receives a score on a scale from 0 to 20. A dog who scores a 0 has a normal oesophagus motility, a dog who scores 20 has no oesophagus motility and has megaoesophagus. Besides this, blood samples are taken and an extensive medical history of each dogs is requested in order to eliminate any other causes of the found deviations. Currently, we perform follow up swallow studies in dogs that were sceened as a puppy at 6 and 12 months of age. In these screenings, we saw comparable results at both ages. The number of animals we followed up on is currently too small to be able to definitively say whether or not the oesophagus motility changes during the first year of life.”     Fieten explains that in the past years, > 100 dogs were screened and DNA samples were taken from all of them. “We generate attention for the research project, such as by giving lectures to breeding organisations and veterinarians. In 2023, the owners of dogs who participated in the research at a young age will be contacted for follow up studies We also want to better inform vets, because this will lead to more adequate diagnoses for dogs with milder complaints and owners being well informed. Knowledge among breeders will also ensure that breeding animals will be better screened and dogs with oesophageal dysmotility will be used less often for breeding. Eventually, our goal in this is to achieve a reduction of animals with this severe disease.”  The research team would like to sincerely thank the partners and donors of the Dwarfkezen project for their support. Together, we are making a difference! Do you also want to contribute to a future without 'Esophageal Paralysis'? Support this project!

Jaarverslag en Online Impactverslag Vrienden Diergeneeskunde 2021 03-06-2022 | 21:00 In het kader van de One Medicine gedachte maakte Vrienden Diergeneeskunde in 2021 een groot aantal projecten mogelijk gericht op het verbeteren van de gezondheid en het welzijn van dier én mens. In de aanloop naar het 200-jarige jubileum van de faculteit Diergeneeskunde organiseerde Vrienden Diergeneeskunde in samenwerking met de Diergeneeskundige Studenten Kring het Veterinair Vuur, een estafette langs dierenartspraktijken door heel Nederland. Benieuwd naar wat we in 2021 hebben gerealiseerd dankzij de steun van al onze donateurs en partners? In ons jaarverslag lees je meer over enkele in het oog springende projecten en de actie Veterinair Vuur.Nieuw dit jaar is ons dynamische impactverslag, waarin we de voortgang van alle lopende projecten delen en onze partners en ambassadeurs aan het woord komen. Want dat we samen met al onze dierenvrienden impact creëren, is duidelijk. Lees hier het impactverslag.Nogmaals veel dank voor alle steun. Online jaarverslag 2021 Online impactverslag 2021

Congenitale Idiopathische Megaoesophagus (CIM), wat is dat eigenlijk?

CIM is een aandoening van de slokdarm, een buisvormig orgaan tussen de keel en de maag. Wanneer een hond voedsel doorslikt komt het in de slokdarm terecht. Deels door de zwaartekracht en met ondersteuning van het samentrekken van de spieren in de slokdarmwand, net achter het voedsel, wordt het eten snel naar de maag verplaatst. Onderin de slokdarm zit een opening die het eten doorlaat naar de maag, maar voorkomt dat er zomaar eten terugkomt vanuit de maag.

Bij honden met een megaoesophagus is de spierspanning geheel afwezig. Hierdoor staat de slokdarm wijd open over de gehele lengte. Het eten en drinken wordt dan niet meer goed naar de maag verplaatst, maar blijft in de slokdarm ‘hangen’ en kan ongemerkt overgegeven worden. Dit heet regurgiteren en is iets anders dan braken.

Welke complicaties kunnen optreden?

Wanneer er door de megaoesophagus ook maaginhoud terugkomt kan het maagzuur voor irritatie zorgen in de slokdarm. En omdat regurgiteren niet gereguleerd wordt vanuit de hersenen sluit het lichaam niet automatisch de ademweg af. Hierdoor bestaat er een groot risico op verslikking, waarbij maaginhoud in de longen terecht kan komen en er een ernstige longontsteking kan optreden. Een longontsteking door verslikking kan fataal verlopen. Ook kan een pup door frequent regurgiteren onvoldoende voeding binnenkrijgen en zo vermageren en ernstig verzwakken.

Wat is een slokdarmdisfunctie?

Uit een eerste inventarisatie van familieleden van pups met een aangeboren megaoesophagus blijkt dat er dieren zijn die geen volledige slokdarmverlamming (megaoesophagus) hebben, maar waarbij wel de slokdarmfunctie in meer of mindere mate is verstoord. Tijdens een slikfilm wordt gezien dat voedsel soms enige tijd in de slokdarm blijven hangen voordat ze doorgaan naar de maag, of dat maaginhoud terugstroomt naar de slokdarm. Vaak vertonen de dieren geen of maar zeer beperkt klinische verschijnselen en hoef je als eigenaar niet te merken aan je hond dat er een afwijking is in de slokdarmfunctie. Het feit dat familieleden van pups met aangeboren megaoesophagus deze afwijkingen laten zien, geeft een indicatie dat deze slokdarmdisfunctie een vergelijkbare genetische oorzaak heeft als de aangeboren megaoesophagus.

Oorzaak

CIM is een aangeboren erfelijke aandoening. Over de oorzaak, vererving en betrokken genen is nog niet veel bekend. Ook over de verschillende gradaties waarin de aandoening tot uiting komt en welke behandelwijze daar het beste bij past is nog onbekend. Hiervoor is aanvullend onderzoek nodig.

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Anonymous Ter herinnering aan Skye, voor verder onderzoek naar deze aandoening. To: Ter herinnering aan Ierse Setter Skye 28-09-2024 | 15:07

Anonymous To: Ter herinnering aan Ierse Setter Skye 24-09-2024 | 13:06

Anonymous Ter nagedachtenis aan Skye en in de hoop dat slokdarmverlamming voorkomen kan worden en beter behandeld. Read more To: Ter herinnering aan Ierse Setter Skye 24-09-2024 | 11:18

Rosalie To: Ter herinnering aan Ierse Setter Skye 24-09-2024 | 10:41

Anonymous To: Ter herinnering aan Ierse Setter Skye 24-09-2024 | 10:34