Disease overview

Neuroaxonal dystrophy is an early-onset central nervous system development disorder that leads to degeneration and dysfunction at birth. This condition is lethal.

Gene name

MFN2

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs include joint stiffness, respiratory failure, and spinal and joint deformities at birth. This condition is lethal.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests, including imaging, may be required for a definitive diagnosis. Genetic testing is necessary to determine an underlying genetic cause.

Breeds at higher risk

Schnauzer-Beagle Cross

Citations

Fyfe JC, Al-Tamimi RA, Liu J, Schäffer AA, Agarwala R, Henthorn PS. A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics. 2011 Aug;12(3):223-32. doi: 10.1007/s10048-011-0285-6. Epub 2011 Jun 4. PMID: 21643798; PMCID: PMC3165057.

Disclaimer

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