Genetic Testing Now Available at University of California Davis and University of Milan for Inherited Myopathy in Sphynx and Devon Rex Cats

From: Martin PT et al (2008) Neuromuscular Disorders 18:942-952

A recessive mutation that causes a congenital muscle weakness, "myopathy" in Devon rex and Sphynx cats has been discovered by a world-wide research team of geneticists and neurologists from the University of Missouri, the University of California - Davis, the University of California - San Diego, the University of Sydney and the University of Milan. The mutation affects a gene, COLQ, which causes a congenital myasthenic syndrome (CMS) that is similar to humans.

Affected cats present with passive ventroflexion of the head and neck, head bobbing, scapulae protrusion, megaesopahagus, generalized muscle weakness and fatigability. The disease likely started in Devon Rex and spread to Sphynx. Cats show prominent lordosis and generally succumb to the disease by asphyxiation due to choking on food or aspiration pneumonia by two years of age. Signs became evident at three to 23 weeks of age and then usually progressed slowly or remained static. Cats must have 2 copies of the mutation to have disease.

Moderately to severely affected cats show evidence of more generalized muscle weakness, particularly following exertion, stress or excitement. Typically they have a high-stepping forelimb gait, head bobbing and progressive dorsal protrusion of the scapulae. Affected cats tire easily with exercise, with progressive shortening of the stride and superimposed tremor. Eventually they collapse in sternal recumbency, typically with the head coming to rest on, or to one side of, their front paws. Affected cats frequently adopt a characteristic 'dog-begging' or "chipmunk" position, usually with their front legs resting on a convenient object.

The disease was first described in the UK in 1989 with detailed presentations from Australia in 1993. Cats have been identified in the USA and more recently across Europe.

Robinson R (1992) 'Spasticity'in the Devon rex cat. Veterinary Record 132: 302.

Lievesley P, Gruffydd-Jones T (1989) Episodic collapse and weakness in cats. Veterinary Annual 29:261-269

Malik R, Mepstead K, Yang F, Harper C (1993) Devon rex cats. Journal of Small Animal Practice 34:539-546

Shelton GD, Sturges B, Lyons L, Williams DC, Aleman M, Jiang Y, Mizisin A (2007) Myopathy with tubulin-reactive inclusions in two cats. Acta Neuropathol 114 (5):537-542.

Martin PT, Shelton GD, Dickinson PJ, Sturges BK, Xu R, LeCouteur RA, Guo LT, Grahn RA, Lo HP, North KN (2008) Muscular dystrophy associated with α-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscular Disorders 18 (12):942-952










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