What’s new in muscle and peripheral nerve diseases?

Summary

It is likely that most neuromuscular diseases that are described in humans will have a counterpart in our companion animals. With the advent of molecular genetics and the completion of the canine and feline genomes, an ever expanding number of DNA-based tests should become available for the diagnosis of muscle and peripheral nerve diseases. Molecular testing procedures should enable us to continue to unravel the molecular basis of neuromuscular diseases for which the cause is still unknown. It is important that accurate clinical evaluations and diagnostic testing, including muscle and peripheral nerve biopsies, are performed in order to reach these goals. This review focuses on recently identified inherited neuromuscular diseases in companion animals.

Keywords

Muscle - myopathies - nerve - neuropathies - inherited diseases

• References

• 1 Shelton Shelton, Engvall E. Muscular dystrophies and other inherited myopathies. Vet Clin North Am 2002; 32: 103-124.
• 2 Shelton Shelton, Engvall E. Canine and feline models of human inherited muscle diseases. Neuromuscul Disord 2005; 15: 127-138.
• 3 Schatzberg Schatzberg, Shelton GD. Newly identified neuromuscular disorders. Vet Clin North Am 2004; 34: 1497-1524.
• 4 Cameron JM, Maj MC, Levandovskiy V. et al. Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 2007; 90: 15-23.
• 5 Fyfe JC. Molecular diagnosis of inherited neuromuscular diseases. Vet Clin North Am 2002; 32: 287-300.
• 6 Bergman RL, Inzana KD, Monroe WE. et al. Dystrophin-deficient muscular dystrophy in a Labrador retriever. J Am Anim Hosp Assoc 2002; 38: 255-261.
• 7 Kramer JT, Hegreberg GA, Bryan GM. et al. A muscle disorder of Labrador retrievers characterized by deficiency of type II muscle fibers. J Am VetMed Assoc 1976; 169: 817-820.
• 8 McKerrell McKerrell, Braund KG. Hereditarymyopathy in Labrador retrievers: A morphologic study. Vet Pathol 1986; 23: 411-417.
• 9 Pele M, Tiret L, Kessler JL. et al. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet 2005; 14: 1417-1427.
• 10 Herrtage Herrtage, Houlton JEF. Collapsing Clumber spaniels. Vet Rec. 1979 105. 334.
• 11 Houlton Houlton, Herrtage ME. Mitochondrial myopathy in the Sussex spaniel. Vet Rec. 1980 106. 206.
• 12 Jarvinen Jarvinen, Sankari S. Lactic acidosis in a Clumber spaniel. Acta Vet Scand 1996; 37: 119-121.
• 13 Shelton GD, Van Ham L, Bhatti S. et al. Pyruvate dehydrogenase deficiency in Clumber and Sussex spaniels in the United States and Belgium. J Vet Intern Med. 2000 14. 342a.
• 14 Gregory BL, Shelton GD, Bali DS. et al. Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 2007; 21: 40-46.
• 15 Herrtage Herrtage, Palmer AC. Episodic falling in the cavalier King Charles spaniel. Vet Rec 1983; 112: 458-459.
• 16 Wright JA, Brownlie SE, Smyth JBA. et al. Muscle hypertonicity in the cavalier King Charles spaniel-myopathic features. Vet Rec 1986; 118: 511-512.
• 17 Wright JA, Smyth JBA, Brownlie SE. et al. Amyopathy associated with muscle hypertonicity in the cavalier King Charles spaniel. J Com Pathol 1987; 97: 559-565.
• 18 Garosi LS, Platt SR, Shelton GD. Hypertonicity in Cavalier King Charles Spaniels. J Vet Intern Med. 2002 16. 330a.
• 19 Shelton GD. Muscle pain, cramps, and hypertonicity. Vet Clin North Am 2004; 34: 1483-1496.
• 20 Van Ham L, Bhatti S, Polis I. et al. ‘Continuous muscle fibre activity’ in six dogs with episodic myokymia, stiffness and collapse. Vet Rec 2004; 155: 769-774.
• 21 Targett MP, Franklin RJM, Olby N. et al. Central core myopathy in a Great Dane. J Small Anim Pract 1994; 35: 100-103.
• 22 Lujan-Pascual A, Shelton GD, Targett MP. et al. Inherited myopathy of Great Danes. J Small Anim Prac 2006; 47: 249-254.
• 23 Shelton GD, Podell M, Poncelet L. et al. Inherited polyneuropathy in Leonberger dogs: A mixed or intermediate form of Charcot-Marie-Tooth disease?. Muscle & Nerve 2003; 27: 471-477.
• 24 Dyck Dyck, Klein CJ. Diseases of peripheral nerves. In: Engel AG, and Franzini Armstrong C. (eds). Myology. McGraw-Hill; 2004. pp 1889-1929.
• 25 Pareyson D. Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis. Muscle Nerve 1999; 22: 1498-1509.
• 26 Coates JR, O'Brien DP. Inherited peripheral neuropathies in dogs and cats. Vet Clin North Am 2004; 34: 1361-1401.
• 27 Gabriel A, Poncelet L, Van Ham L. et al. Laryngeal paralysis-polyneuropathy complex in young related Pyrenean mountain dogs. J Small Anim Pract 2006; 47: 144-149.
• 28 Braund KG, Toivio-Kinnucan M, Vallat JM. et al. Distal sensorimotor polyneuropathy in mature Rottweiler dogs. Vet Pathol 1994; 31: 316-326.
• 29 da Costa RC, Parent J, Poma R. et al. Adult-onset distal sensorimotor polyneuropathy in Bouvier des Flandres dogs. J Vet Intern Med. 2005 19. 459a.
• 30 Vermeersch K, Van Ham L, Braund KG. et al. Sensory neuropathy in two Border collie puppies. J Small Anim Prac 2005; 46: 295-299.
• 31 Harkin KR, Cash WC, Shelton GD. Sensory and motor neuropathy in a Border collie. J Am Vet Med Assoc 2005; 227: 1263-1265.
• 32 Shelton GD. The rapidly growing field of neuromuscular disease. J Small Anim Prac 2006; 47: 245-246.