NEUROMUSCULAR CASE OF THE MONTH MAY 2010

Startle disease identified in Irish Wolfhound puppies
Contributed by Drs. Diane Shelton,1Jennifer Gill,2 Deborah Capper3 and Robert Harvey2

1Comparative Neuromuscular Laboratory, University of California, San Diego
2 Department of Pharmacology, The School of Pharmacy, London, UK
3Halsey East Animal Clinic, Portland, OR


Startle disease or hyperekplexia is caused by defects in mammalian glycinergic neurotransmission, resulting in neonatal hypertonia and an exaggerated startle reflex triggered by noise or touch. Startle disease has been shown in humans and animals to be caused by mutations in one of three genes (GLRA1, GLRB, and SLC6A5) encoding glycine receptors or transporters. Recently, a litter of Irish Wolfhound puppies was identified in which two puppies showed touch-induced muscle stiffness and tremor beginning 5-7 days post-partum (see figure below and Go To Video Clip). Muscle rigidity stopped when the puppies were relaxed or sleeping. Based on the clinical signs, we screened the possible candidate genes and found a defect in one of these genes in the two affected puppies. Other members of the litter and the dam were shown to be carriers. Thus, a new cause of startle disease in the Irish Wolfhound breed showing an autosomal recessive mode of inheritance has been identified. A diagnostic test should be in place soon for detection of carrier animals which would be asymptomatic and nearly impossible to identify. Information regarding testing will be updated on this website as soon as this becomes available.  

 

 

 

 

 

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