Disease overview

Nemaline myopathy (NM) is a congenital muscle disorder that causes poor skeletal muscle tone and problems with muscle contraction. Nema is Greek for "thread", and nemaline myopathy is characterized by muscle cells that contain abnormal clumps of thready or sometimes more "rod like" material called nemaline bodies.

Gene name

NEB

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs present with muscle weakness, hypotonia (weak muscle tone), and reduced reflexes.

How is it diagnosed

Nemaline myopathy is diagnosed by a veterinarian through evaluation of health history and a thorough examination of the dog, including the presence of clinical signs. A muscle biopsy often supports diagnosis of this condition. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Evans JM, Cox ML, Huska J, Li F, Gaitero L, Guo LT, Casal ML, Granzier HL, Shelton GD, Clark LA. Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. Mamm Genome. 2016 Oct;27(9-10):495-502. doi: 10.1007/s00335-016-9644-9. Epub 2016 May 23. PMID: 27215641; PMCID: PMC5100356.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.