Disease overview

Canine multiple system degeneration (CMSD) is a hereditary neurodegenerative disorder that leads to progressive neuronal degeneration in the cerebellum, as well as other locations in the brain. The cerebellum is the part of the brain responsible for controlling coordination and balance. It helps to fine tune complex movements, aiding in planning, timing, and force of movements. This disease develops early in life and leads to abnormal, uncoordinated movements (ataxia), and eventually requires euthanasia.

Gene name

SERAC1

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by cerebellar disease have uncoordinated gaits (ataxia), intention tremors, and lack of balance. Muscles of the eyes may be affected, presenting with rhythmic eye flicking called "nystagmus". Symptoms of this early-onset disease typically present around 2 months of age and then rapidly progress. It often requires euthanasia by 1-2 years of age due to severe postural and motor deficits.

How is it diagnosed

Clinical signs are suggestive of a cerebellar disease, although not specific for this mutation. Other causes must be ruled out if a genetic cause is not readily apparent. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs. Advanced imaging may help diagnose this disease.

Breeds at higher risk

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Citations

St Jean SC, Jortner BS, Doan RN, Dindot SV, Johnson GS, Bullock G, Whitley DB, Levine JM, Hancock SK, Ambrus A, Porter BF. Pathologic characterization of canine multiple system degeneration in the Ibizan hound. Vet Pathol. 2022 Jan;59(1):132-137. doi: 10.1177/03009858211043088. Epub 2021 Sep 7. PMID: 34490804.

O'Brien DP, Johnson GS, Schnabel RD, Khan S, Coates JR, Johnson GC, Taylor JF. Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. J Hered. 2005;96(7):727-34. doi: 10.1093/jhered/esi086. Epub 2005 Jun 15. PMID: 15958791.

Disclaimer

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