A six month old male Norfolk Terrier was confirmed as having dystrophin deficient muscular dystrophy (DD-MD) by the Animal Health Trust neurology department. The genetic cause of the disease in this dog could be identified by sequencing the coding exons of the dystrophin gene (DMD) of this dog and his mother, a novel variant in DMD was found causing the lack of functional dystrophin protein.
In Norfolk Terriers the Dystrophin Deficient Muscular Dystrophy is caused by a defect of a gene on the X chromosome (X-linked recessive), therefore it is more likely that male dogs show signs of muscular dystrophy than female dogs because male dogs have only one copy of the X chromosome.
Muscle cells without functional dystrophin are leaky, muscle health of all muscles is affected, no treatment for muscular dystrophy is available.
Female dogs can be asymptomatic carriers of the dystrophin-deficient form of muscle dystrophy.
A genetic test is available.
Jenkins, C.A., Forman, O.P. Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog. Canine Genet Epidemiol 2, 7 (2015). https://doi.org/10.1186/s40575-015-0019-4
Sánchez L, Beltrán E, de Stefani A, Guo LT, Shea A, Shelton GD, et al. (2018) Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs. PLoS ONE 13(2): e0193372. https://doi.org/10.1371/journal.pone.0193372
Malcolm Weir, DVM, MSc, MPH; Catherine Barnette, DVM: Muscular Dystrophy.
Shelton, G.D.; Minor, K.M.; Friedenberg, S.G.; Cullen, J.N.; Guo, L.T.; Mickelson, J.R. Current Classification of Canine Muscular Dystrophies and Identification of New Variants. Genes 2023, 14, 1557. https://doi.org/10.3390/genes14081557
Leave a Reply
You must be logged in to post a comment.