Disease overview

Spongy degeneration with cerebellar ataxia (SDCA) is a neurological disorder for which the Belgian Shepherd is at a higher risk. A mutation in ATP1B2 gene causes the cerebellar dysfunction that characterizes SDCA. Ataxia means "without coordination". Degeneration of the cerebellar structures causes ataxia, which is a neurological sign of defective motor coordination that can affect gait, balance, speech, and gaze. The cerebellum is the part of the brain responsible for controlling coordination and balance as it supports planning, timing, and force of movements and fine tunes complex movements.

Gene name

ATP1B2

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". This disease presents with symptoms as early as 1-2 months of age.

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.

Breeds at higher risk

Citations

Mauri N, Kleiter M, Dietschi E, Leschnik M, Högler S, Wiedmer M, Dietrich J, Henke D, Steffen F, Schuller S, Gurtner C, Stokar-Regenscheit N, O'Toole D, Bilzer T, Herden C, Oevermann A, Jagannathan V, Leeb T. A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). G3 (Bethesda). 2017 Aug 7;7(8):2729-2737. doi: 10.1534/g3.117.043018. PMID: 28620085; PMCID: PMC5555477.

Disclaimer

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