Congenital myopathy with abundant nemaline rods in a cat.
Nemaline myopathy is associated with rod-shaped structures in muscle fibers. At least seven distinct clinical forms have been described in humans and mutations have been identified in five different thin-filament genes. Only a few cases of spontaneously occurring nemaline myopathy have been reported in animals and include an adult-onset form in a family of cats and an early-onset form in a dog. Here, we describe a 2-year-old male, neutered, domestic shorthaired cat that was referred to the Veterinary Medical Teaching Hospital, University of California-Davis, for evaluation of chronic, progressive weakness, and fine tremors. Neurologic deficits were restricted to the neuromuscular system. Electromyography showed mild to moderate diffuse spontaneous activity. Although rod bodies were prominent on light and electron microscopic evaluation of biopsies from several muscles, sarcoplasmic accumulations of dystrophin, desmin, and spectrin also were identified by immunohistochemistry. These findings may represent the occurrence of rod bodies in conjunction with a protein-aggregate myopathy.
Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616, USA.
Stephanie A
SA
Kube
Karen M
KM
Vernau
Richard A
RA
LeCouteur
Andrew P
AP
Mizisin
G Diane
GD
Shelton
D000818:Animals; D002371:Cat Diseases / Q000473:pathology*; D002415:Cats; D004576:Electromyography / Q000379:methods; D007150:Immunohistochemistry / Q000379:methods; D002479:Inclusion Bodies / Q000473:pathology; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods; D018485:Muscle Fibers, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology* / Q000502:physiology; D009124:Muscle Proteins / Q000378:metabolism; D017696:Myopathies, Nemaline / Q000473:pathology* / Q000503:physiopathology / Q000662:veterinary*; D014463:Ultrasonography
D009124:Muscle Proteins