O que significa “Limpar”?
O animal não carrega a mutação. Não desenvolverá a doença e não vai passar adiante.
Cachorro Degeneração esponjosa com ataxia cerebelar tipo 1 (SDCA1)
**Understanding Spongy Degeneration With Cerebellar Ataxia Type 1 (SDCA1) in Dogs: A DNA Test Guide** Spongy Degeneration With Cerebellar Ataxia Type 1 (SDCA1) is a hereditary neurological disorder affecting certain dog breeds. This condition leads to progressive ataxia, impacting coordination and balance. A DNA test for SDCA1 is crucial for early detection, allowing pet owners to make informed breeding decisions. By identifying carriers of the SDCA1 gene mutation, breeders can help reduce the prevalence of this debilitating condition. Regular testing not only promotes the health of future generations but also enhances overall breed quality. Learn more about SDCA1 and the benefits of genetic testing for your furry companion today!
Abreviatura: SDCA1
Mutação analisada: KCNJ10 c.986T>C
Herança: Autossômico Recessivo
Acrônimo
SDCA1
Frequência observada
Gravidade clínica
Classificação clínica
Doenças Neurológicas
Mutação analisada
KCNJ10 c.986T>C
p.(L329P)
p.(L329P)
Modo de herança
Autossômico Recessivo
Resumo do teste:
Spongy Degeneration With Cerebellar Ataxia Type 1 (SDCA1) is a genetic disorder affecting certain dog breeds, leading to progressive neurological degeneration. This condition is characterized by a lack of coordination, balance issues, and difficulty in movement, resulting from spongy lesions in the cerebellum. A DNA test for SDCA1 can identify carriers and affected dogs, helping breeders make informed decisions to reduce the prevalence of this disorder. Early diagnosis through genetic testing can aid in managing symptoms and improving the quality of life for affected dogs. Responsible breeding practices can help eliminate this debilitating condition from future generations.
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 Spongy Degeneration With Cerebellar Ataxia Type 1 (SDCA1)
Spongy Degeneration With Cerebellar Ataxia Type 1 (SDCA1) is a hereditary neurological disorder that affects dogs, leading to significant impairments in movement and coordination. This condition is characterized by a degeneration of the cerebellum, the part of the brain responsible for coordinating voluntary movements. As a result, affected dogs may exhibit symptoms such as unsteady gait, tremors, and difficulty with balance.
Genetic Basis of SDCA1
SDCA1 is caused by mutations in specific genes that are crucial for normal neurological function. These genetic mutations disrupt the development and maintenance of neural connections within the cerebellum, leading to the spongy degeneration of brain tissue. The condition follows an autosomal recessive inheritance pattern, meaning that both parents must carry the mutated gene for an offspring to be affected.
Sinais e Sintomas Clínicos
Dogs with SDCA1 typically begin to show clinical signs between six months to two years of age. Common symptoms include:
Importância dos testes de DNA
DNA testing plays a crucial role in diagnosing SDCA1. By identifying the genetic mutations responsible for the condition, veterinarians and pet owners can make informed decisions regarding the management and breeding of affected dogs. Early diagnosis can lead to better care strategies and provide valuable information for breeders to avoid perpetuating the condition in future generations.
Management and Prognosis
Currently, there is no cure for SDCA1. Management of the condition focuses on supportive care to improve the quality of life for affected dogs. This may include physical therapy, modifications to the living environment to reduce the risk of injury, and regular veterinary check-ups to monitor the progression of the disease. The prognosis for dogs with SDCA1 varies, with some dogs living a relatively normal life span despite their symptoms, while others may experience more severe impairments over time.
Conclusão
Spongy Degeneration With Cerebellar Ataxia Type 1 is a serious genetic condition that affects the neurological function of dogs. Understanding the genetic underpinnings and clinical manifestations of SDCA1 is essential for effective management and breeding practices. DNA testing serves as a vital tool in diagnosing and understanding this condition, ultimately leading to better outcomes for affected dogs.
Raça reconhecida para o teste: Degeneração esponjosa com ataxia cerebelar tipo 1 (SDCA1)
- Belgian Malinois
- Belgian Sheepdog
- Belgian Shepherd Dog
- Lakenois
🧬 Interpretation of genotypes SDCA1
Genótipo
Status
🟡 N/N
Não portador - sem risco
🟡 N/SDCA1
Transportadora - Sem Risco
❌ SDCA1/SDCA1
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/SDCA1 (Operadora)
SDCA1/SDCA1 (Afetado)
Perguntas frequentes sobre testes de DNA
O que este teste de DNA detecta?
This DNA test detects the mutation associated with Spongy Degeneration With Cerebellar Ataxia Type 1 (SDCA1) 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 KCNJ10 c.986T>C.
Um animal portador é necessariamente afetado?
Não necessariamente. A interpretação depende do padrão de herança e do genótipo resultante.
Referências
Van Poucke Mario, Stee Kimberley, Bhatti Sofie F M, Vanhaesebrouck An, Bosseler Leslie, Peelman Luc J, Van Ham Luc. The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs. Eur J Hum Genet. 2017 Feb;25(2):222-226. doi: 10.1038/ejhg.2016.157. Epub 2016 Dec 14.
Mauri Nico, Kleiter Miriam, Leschnik Michael, Högler Sandra, Dietschi Elisabeth, Wiedmer Michaela, Dietrich Joëlle, Henke Diana, Steffen Frank, Schuller Simone, Gurtner Corinne, StokarRegenscheit Nadine, O'Toole Donal, Bilzer Thomas, Herden Christiane, Oevermann Anna, Jagannathan Vidhya, Leeb Tosso. A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). G3 (Bethesda). 2017 Feb 9;7(2):663-669. doi: 10.1534/g3.116.038455.