title: Congenital diseases of feline muscle and neuromuscular junction.
abstract: Although muscle diseases occur relatively rarely in cats, a number of congenital feline myopathies have been described over the last 20 years and are reviewed in this paper. Some of them have been reported exclusively in specific breeds, including the hypokalaemic myopathy of Burmese cats, type IV glycogen storage disease in Norwegian Forest cats, or the myopathy of Devon Rex. Other congenital disorders of muscle and neuromuscular junction such as myotonia congenita, dystrophin-deficient hypertrophic feline muscular dystrophy, laminin alpha2 deficiency, or congenital myasthenia gravis may occur in any cat. A systematic approach is essential in order to efficiently obtain a timely diagnosis in cats showing signs of muscle disease. After a thorough clinical examination, this approach includes blood analyses (eg, serum concentration of muscle enzymes), electrophysiology where available (electromyography, nerve conduction studies), and sampling of muscle biopsies for histological, histochemical and immunohistochemical evaluation. When available, detection of healthy carriers of these genetic disorders is important to eliminate the gene mutations from breeding families. Clinicians regularly receiving feline patients must have a good knowledge of congenital feline myopathies and the features which enable a diagnosis to be made and prognosis given. Besides preserving or restoring the well-being of the myopathic patient, rapid and efficient information and counselling of the breeders are of central importance in order to prevent the recurrence of the problem in specific breeding lines.
authors.affiliation: Division of Small Animal Internal Medicine, Department of Clinical Veterinary Medicine, Faculty of Veterinary Medicine, University of Bern, Laenggass-str. 128, 3001 Bern, Switzerland. frederic.gaschen@kkh.unibe.ch
authors.forename: Frédéric
authors.initials: F
authors.lastname: Gaschen
authors.forename: André
authors.initials: A
authors.lastname: Jaggy
authors.forename: Boyd
authors.initials: B
authors.lastname: Jones
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000151:congenital* / Q000175:diagnosis / Q000503:physiopathology; D002415:Cats; D009468:Neuromuscular Diseases / Q000151:congenital / Q000503:physiopathology / Q000662:veterinary*; D009469:Neuromuscular Junction / Q000503:physiopathology*; D020511:Neuromuscular Junction Diseases / Q000151:congenital / Q000503:physiopathology / Q000662:veterinary*; D012307:Risk Factors