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Charcot Marie Tooth Disease (Type 4B2)

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Description:

Charcot-Marie-Tooth Disease (Type 4B2), or CMT4B2, is a hereditary neuropathy affecting both humans and certain dog breeds, including the Miniature Schnauzer. It is caused by mutations in the SBF2 (SET-Binding Factor 2) gene, leading to abnormalities in the myelin sheath—a protective covering of nerve fibers in the peripheral nervous system. This damage to the myelin sheath results in nerve signal disruptions, causing muscle weakness, atrophy, and sensory loss.

Miniature Schnauzers with CMT4B2 may exhibit clinical signs like difficulty in walking, muscle atrophy, loss of balance, and decreased sensation in limbs. Given its inherited nature, it's crucial to identify carriers of the mutated gene to prevent passing it to future generations. Genetic testing offers breeders, veterinarians, and pet owners a way to detect this mutation, allowing them to make informed breeding and healthcare decisions to minimize the impact of the disease in the breed.

Orivet provides genetic tests that can help identify the presence of the SBF2 mutation in Miniature Schnauzers, enabling a comprehensive approach to breed health management through scientific knowledge.

Test Overview:

Charcot-Marie-Tooth Disease is an inherited neurological disease affecting dogs. Affected dogs typically present before 2 years of age with clinical signs related to megaesophagus and laryngeal paralysis. These include regurgitation, abnormal vocalization or quiet barking, and difficult, loud breathing. Less often dogs may have mild neurological abnormalities including delayed reflexes, tremors, hind end weakness, or exercise intolerance. This condition is slowly progressive and affected dogs may live normal lifespans with management of clinical signs.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

MTMR13

Variant Detected:

chr21:33682425 (canFam4): C/A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Farré Mariné, A, Granger, N, Bertolani, C, Mascort Boixeda, J, Shelton, GD, Luján Feliu-Pascual, A. Long-term outcome of Miniature Schnauzers with genetically confirmed demyelinating polyneuropathy: 12 cases. J Vet Intern Med. 2020; 34:2005-2011. [PubMed: 32738000] 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 [PubMed: 31772832]

Associated Breed(s):

Miniature Schnauzer, Mixed Breed,

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