Neuroaxonal Dystrophy Spanish Water Dog (NAD-SWD)
Neuronal Dystrophy, NAD
Neuroaxonal Dystrophy in Spanish water dogs (NAD-SWD) is a progressive neurological disease that typically presents between 6 months to 1 year of age. Affected dogs show symptoms including an abnormal gait, incontinence, and potential behavioral changes with some dogs also displaying vision loss and decreased muscle tone. There is no known treatment for this rapidly progressing disease and affected dogs are typically euthanized within a year of diagnosis.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Neuroaxonal Dystrophy nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Neuroaxonal Dystrophy but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with this disease and are susceptible to developing Neuroaxonal Dystrophy.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
TECPR2
Chromosome
Ch. 8
Mutation
70433320C>T; C.4009C>T
Publication:
Hahn K, Rohdin C, Jagannathan V, Wohlsein P, Baumgärtner W, Seehusen F, Spitzbarth I, Grandon R, Drögemüller C, Jäderlund KH. TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One. 2015 Nov 10;10(11). [PubMed: 26555167]
