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Charcot Marie Tooth Disease (Type 4B2)

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Test Overview:

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.

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):

https://pubmed.ncbi.nlm.nih.gov/32738000/

Associated Breed(s):

Miniature Schnauzer, Mixed Breed,

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