Neuroaxonal Dystrophy Shepherd Type (NAD-SHEP)
Neuronal Dystrophy, NAD
Neuroaxonal Dystrophy in Miniature American Shepherds, Miniature Australian Shepherds, and Toy Australian Shepherds (NAD-SHEP) is a progressive neurological disease that typically presents between 2-4 years of age. Symptoms of the disease start with the dog holding a wide rear stance with an intermittent abnormal gait. Affected dogs will develop a more regular and noticeable abnormal gait over time that can result in wounds on the top of the foot. Additional potential symptoms can include incontinence, behavioral changes, decreased muscle tone, mental dullness, vision issues, and laryngeal paralysis. The disease can progress rapidly with no known treatment that may eventually necessitate euthanasia of the affected dog.
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 likely to develop Neuroaxonal Dystrophy.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
RNF170
Chromosome
Ch. 16
Mutation
Chr16:23,653,869:delG: 1 bp deletion (del G)
Publication:
Shawna R. Cook, Cleo Schwarz, Julien Guevar et al. RNF170 frameshift deletion in Miniature American Shepherd dogs with neuroaxonal dystrophy provides a naturally occurring model for human RNF170 phenotypic spectrum, 01 February 2024, PREPRINT (Version 1) available at Research Square. [https://doi.org/10.21203/rs.3.rs-3914204/v1]