Què significa "Esborrar"?
L'animal no porta la mutació. No desenvoluparà la malaltia i no ho transmetrà.
gos Variant 3 de la polineuropatia hipomielinizant (HMP3)
The DNA test for Hypomyelinating Polyneuropathy Variant 3 (HMP3) in dogs is essential for early detection of this genetic disorder. HMP3 affects the nervous system, leading to muscle weakness and coordination issues in affected dogs. By identifying carriers and affected dogs through genetic testing, breeders can make informed decisions to reduce the incidence of HMP3 in future litters. This test is especially important for breeds prone to hypomyelinating polyneuropathy. Early diagnosis via DNA testing helps improve the quality of life and management of affected dogs. Ensure your dog’s health with reliable HMP3 genetic screening today. Protect your breed’s future by utilizing advanced DNA testing for HMP3.
Abreviatura: HMP3
Mutació analitzada: SH3TC2 c.1924C>T
Herència: Autosòmic recessiu
Acrònim
HMP3
Freqüència observada
Gravetat clínica
Classificació clínica
Malalties neurològiques
Mutació analitzada
SH3TC2 c.1924C>T
p.(R642*)
p.(R642*)
Modalitat d'herència
Autosòmic recessiu
Resum de la prova:
Hypomyelinating Polyneuropathy Variant 3 (HMP3) is a genetic disorder affecting dogs, characterized by defective myelin formation in peripheral nerves. This condition leads to muscle weakness, coordination problems, and progressive neurological decline. A DNA test can identify carriers and affected dogs by detecting mutations associated with HMP3. Early diagnosis through genetic screening helps breeders make informed decisions to reduce the incidence of this disease. Managing breeding programs with DNA test results promotes healthier dog populations.
Disponible des del pack: Basic
Aquesta prova d'ADN s'inclou a partir del nostre pack Basic — i també forma part dels packs Basic, Standard, Advanced, Complete.
Veure paquets de proves d'ADN →Tria el paquet que millor s'adapti a la teva estratègia de cria o salut dels teus animals.
Understanding Hypomyelinating Polyneuropathy Variant 3 (HMP3) in Dogs
Hypomyelinating Polyneuropathy Variant 3 (HMP3) is a genetic condition that affects the peripheral nervous system of dogs. This disorder is characterized by the insufficient production of myelin, a protective sheath that surrounds nerve fibers. As a result, affected dogs may experience a range of neurological symptoms due to impaired nerve signal transmission.
Symptoms of HMP3
Dogs with HMP3 may exhibit various clinical signs that can vary in severity. Common symptoms include weakness in the limbs, difficulty in coordination, and muscle atrophy. These symptoms can lead to mobility issues, causing affected dogs to struggle with activities such as running or jumping. Additionally, some dogs may show signs of pain or discomfort, which can further affect their quality of life.
Genetic Basis of HMP3
The underlying cause of HMP3 is a mutation in specific genes responsible for the production and maintenance of myelin. This mutation disrupts the normal development of the nerve fibers, leading to hypomyelination. Understanding the genetic basis of HMP3 is crucial for developing targeted treatments and management strategies for affected dogs.
Diagnosis of HMP3
While a definitive diagnosis of HMP3 is made through genetic testing, veterinarians may also rely on clinical evaluations and neurological examinations. These assessments help to identify the presence of symptoms consistent with polyneuropathy. Once a diagnosis is confirmed through DNA testing, dog owners can better understand the condition and seek appropriate care for their pets.
Opcions de gestió i tractament
Currently, there is no cure for HMP3; however, management strategies can help improve the quality of life for affected dogs. Supportive care may include physical therapy to enhance mobility, pain management strategies, and dietary adjustments to support overall health. Regular veterinary check-ups are essential to monitor the dog's condition and adjust the management plan as necessary.
Conclusió
Hypomyelinating Polyneuropathy Variant 3 is a serious genetic condition that impacts the peripheral nervous system of dogs. Through a combination of genetic testing, clinical evaluation, and supportive care, dog owners can effectively manage the symptoms and improve their pet's quality of life. Continued research into HMP3 will provide further insights into treatment options and the genetic mechanisms underlying this condition.
Raça reconeguda per a la prova: Variant 3 de la polineuropatia hipomielinizant (HMP3)
- Golden Retriever
🧬 Interpretation of genotypes HMP3
Genotip
Estat
🟡 N/N
No transportista - Sense risc
🟡 N/HMP3
Transportista - Sense risc
❌ HMP3/HMP3
Afectat - En risc
Preguntes freqüents: entendre la interpretació
Un "Transportista" és seriós?
No. L'animal és generalment sa, però pot transmetre la mutació al seu descendència.
Què passa si un animal està "afectat"?
Porta dues còpies mutades. S'esperen signes clínics segons la malaltia. No s'ha de criar.
Per què hi ha diferències entre home/dona?
Algunes malalties estan lligades al sexe, de manera que la seva expressió varia en funció de la sexe de l'animal.
Prediu la descendència
N/N (no-transportista)
N/HMP3 (Portador)
HMP3/HMP3 (Afectat)
Preguntes freqüents sobre les proves d'ADN
Què detecta aquesta prova d'ADN?
This DNA test detects the mutation associated with Hypomyelinating Polyneuropathy Variant 3 (HMP3) in order to identify clear, carrier, or at-risk animals.
Per què provar un animal reproductor?
Les proves d'ADN ajuden els criadors a planificar aparellaments més segurs i reduir el risc de transmetre la mutació a la descendència.
Quina és la manera d'herència d'aquesta prova?
El mode d'herència informat per a aquesta prova és autosòmic recessiu.
Quina mutació s'analitza en aquesta prova?
This test analyses the mutation SH3TC2 c.1924C>T.
Un animal portador està necessàriament afectat?
No necessàriament. La interpretació depèn del patró d'herència i del genotip resultant.
Referències
Cook Shawna, Hooser Blair N, Williams D Colette, Kortz Gregg, Aleman Monica, Minor Katie, Koziol Jennifer, Friedenberg Steven G, Cullen Jonah N, Shelton G Diane, Ekenstedt Kari J. Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy. Neuromuscul Disord. 2023 Aug;33(8):677-691. doi: 10.1016/j.nmd.2023.06.007. Epub 2023 Jun 22.