In other species: cattle , dog

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 149400 (trait) , 138491 (gene)

Links to MONDO diseases:

• MONDO:0007868: hyperekplexia 1

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: renamed from 'myoclonus' to 'hyperekplexia, GLRA1-related' [27/5/2023]

Species-specific name: inherited myoclonus

Species-specific description: Gundlach et al. (1993) report the "occurrence of ... [a] stimulus-induced myoclonus in individual, pure-bred Peruvian Paso horses and an associated, specific deficiency in the density of [3H]strychnine binding to inhibitory glycine receptors sites in spinal cord of these animals." The authors suggest that the disease is similar to inherited myoclonus in Poll Hereford calves (see OMIA:000689-9913 : Hyperekplexia, GLRA1-related in Bos taurus). However, the underlying molecular genetic cause in horses has not been identified, and the disease in horses and may not be associated with variants in the GLRA1 gene.