O que significa “Limpar”?
O animal não carrega a mutação. Não desenvolverá a doença e não vai passar adiante.
Cachorro Ataxia hereditária em pastor australiano (HA-AS)
Hereditary Ataxia (HA) in Australian Shepherds is a genetic disorder affecting coordination and balance. A DNA test for HA helps identify carriers and affected dogs, enabling responsible breeding decisions. Early detection through genetic testing prevents the spread of this debilitating condition in the breed. Australian Shepherd owners and breeders rely on HA DNA tests to ensure healthy puppies and maintain breed integrity. This simple, non-invasive test provides accurate results quickly. Prioritizing HA testing supports the well-being and longevity of Australian Shepherds. Stay informed and protect your dog’s future with reliable hereditary ataxia DNA testing.
Abreviatura: HA-AS
Mutação analisada: PNPLA8 c.1169_1170dup
Herança: Autossômico Recessivo
Acrônimo
HA-AS
Frequência observada
Gravidade clínica
Classificação clínica
Doenças Neurológicas
Mutação analisada
PNPLA8 c.1169_1170dup
p.(H391Ffs*4)
p.(H391Ffs*4)
Modo de herança
Autossômico Recessivo
Resumo do teste:
Hereditary Ataxia (HA) in Australian Shepherds is a genetic disorder that affects coordination and balance. DNA testing can identify carriers and affected dogs by detecting mutations in the relevant gene. Early diagnosis through this test helps breeders make informed decisions to reduce the incidence of HA. Puppies inheriting two copies of the mutated gene typically show symptoms of ataxia. Responsible breeding using DNA test results promotes healthier Australian Shepherd populations.
Disponível no pacote: Basic
Este teste de DNA está incluído a partir do nosso pacote Basic - e também faz parte dos packs Basic, Standard, Advanced, Complete.
Ver pacotes de teste de DNA →Escolha o pack que melhor se adapta à sua estratégia de criação ou saúde dos seus animais.
Understanding Hereditary Ataxia in Australian Shepherds
Hereditary Ataxia is a progressive neurological disorder that affects the coordination and balance of dogs, particularly in Australian Shepherds. This condition is characterized by the degeneration of the cerebellum, the part of the brain responsible for regulating voluntary motor functions. As a result, affected dogs may exhibit unsteady movements, difficulty in walking, and an overall lack of coordination.
Sintomas e Diagnóstico
The symptoms of Hereditary Ataxia typically manifest in puppies or young adult dogs, often before the age of two. Common signs include stumbling, difficulty in standing or sitting, and an exaggerated gait. As the condition progresses, dogs may struggle with basic movements, leading to a significantly reduced quality of life. Diagnosis usually involves a combination of physical examinations, neurological assessments, and genetic testing to confirm the presence of the ataxia-causing mutations.
Genetic Basis of Hereditary Ataxia
Hereditary Ataxia in Australian Shepherds is caused by specific genetic mutations that can be identified through DNA testing. These mutations affect the development and function of the nervous system, leading to the symptoms observed in affected dogs. Understanding the genetic basis of this condition is crucial for breeders and owners, as it can inform breeding decisions and help reduce the prevalence of the disorder in future generations.
Importância dos testes de DNA
DNA testing for Hereditary Ataxia is an essential tool for breeders and pet owners. By identifying carriers of the gene mutations associated with this condition, breeders can make informed decisions to minimize the risk of producing affected puppies. Additionally, early detection through DNA testing can help owners prepare for the management of the condition, providing better care and support for their dogs as they age.
Gestão e Cuidado
Currently, there is no cure for Hereditary Ataxia, and management focuses on improving the quality of life for affected dogs. This may include physical therapy, modifications in the home environment to ensure safety, and supportive care to help manage symptoms. Regular veterinary check-ups are essential to monitor the progression of the disease and to adjust care as needed.
Conclusão
Hereditary Ataxia is a serious condition that affects the coordination and balance of Australian Shepherds. Understanding the genetic factors involved, along with the importance of DNA testing, can aid in responsible breeding practices and effective management of the condition. By raising awareness and promoting testing, we can work towards reducing the impact of Hereditary Ataxia in this beloved breed.
Raça reconhecida para o teste: Ataxia hereditária em pastor australiano (HA-AS)
- Aussiedoodle
- Australian Shepherd
- Miniature American Shepherd
- Miniature Australian Shepherd Dog
- Toy Australian Shepherd Dog
🧬 Interpretation of genotypes HA-AS
Genótipo
Status
🟡 N/N
Não portador - sem risco
🟡 N/HA-AS
Transportadora - Sem Risco
❌ HA-AS/HA-AS
Afetados - Em risco
FAQ: entendendo a interpretação
Um “transportador” é sério?
Não. O animal é geralmente saudável, mas pode transmitir a mutação ao seu descendência.
E se um animal for “afetado”?
Ele carrega duas cópias mutadas. Os sinais clínicos são esperados dependendo a doença. Não deveria ser criado.
Por que existem diferenças entre homem/mulher?
Algumas doenças estão ligadas ao sexo, pelo que a sua expressão varia dependendo do sexo do animal.
Prever descendência
N/N (nao-portador)
N/HA-AS (Operadora)
HA-AS/HA-AS (Afetado)
Perguntas frequentes sobre testes de DNA
O que este teste de DNA detecta?
This DNA test detects the mutation associated with Hereditary Ataxia In Australian Shepherd (HA-AS) in order to identify clear, carrier, or at-risk animals.
Por que testar um animal reprodutor?
Os testes de DNA ajudam os criadores a planejar acasalamentos mais seguros e a reduzir o risco de transmissão da mutação aos descendentes.
Qual é o modo de herança deste teste?
O modo de herança relatado para este teste é Autossômico Recessivo.
Qual mutação é analisada neste teste?
This test analyses the mutation PNPLA8 c.1169_1170dup.
Um animal portador é necessariamente afetado?
Não necessariamente. A interpretação depende do padrão de herança e do genótipo resultante.
Referências
Abitbol Marie, Jagannathan Vidhya, Laurent Nelly, Noblet Eglantine, Dutil Guillaume F, Troupel Thibaut, de Dufaure de Citres Caroline, Gache Vincent, Blot Stéphane, Escriou Catherine, Leeb Tosso. A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia. Anim Genet. 2022 Oct;53(5):709-712. doi: 10.1111/age.13245. Epub 2022 Jul 21.