Polyneuropathy, SBF2-related

Disease overview

Polyneuropathy, SBF2-related is an inherited brain and spinal cord condition. This causes laryngeal paralysis as the nerves and muscles that move components of the larynx degenerate, compromising an affected dog's ability to breathe properly.

Gene name

SBF2

Inheritance

Autosomal recessive

Signs and symptoms

Primary clinical signs include regurgitation and enlargement of the esophagus (megaesophagus). Noisy or raspy breathing, difficulty swallowing, changes in barking frequency and quality, and mild exercise intolerance can occur. The age of onset ranges significantly, from between 3 months to 8 years of age.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. However, clinical signs are non-specific and require further testing, such as laboratory tests and/or a neurological exam, to rule out other causes. Radiographs may be taken to assess the esophagus. 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

Miniature Schnauzer

Citations

Granger N, Luján Feliu-Pascual A, Spicer C, Ricketts S, Hitti R, Forman O, Hersheson J, Houlden H. Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model. PeerJ. 2019 Nov 21;7:e7983. doi: 10.7717/peerj.7983. PMID: 31772832; PMCID: PMC6875392.

Disclaimer

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