Hereditary neuropathy of Miniature Schnauzer. Rare autosomal recessive case

In the following video, we present the endoscopy of a rare case of Charcot-Marie-Tooth (CMT) neuropathy in a Miniature Schnauzer. Hereditary neuropathy of the Miniature Schnauzer is an inherited genetic disease that in most cases is autosomal dominant. In this case, the heritability was autosomal recessive. Similar to humans, CMT in dogs is caused by genetic mutations affecting the function of peripheral nerves. In the case of Miniature Schnauzers, a specific gene associated with hereditary neuropathy has been identified, indicating a hereditary transmission of the disease. CMT in dogs can manifest with symptoms similar to those observed in humans, including muscle weakness, difficulty walking, muscle atrophy, coordination problems, and loss of sensation in the limbs. These symptoms can vary in severity depending on the severity of the disease. We present a case of Charcot-Marie-Tooth (CMT) neuropathy in a three-year-old Miniature Schnauzer, which has shown symptoms of dysphagia and regurgitation from an early age. Increased esophageal light, along with the presence of fluid inside it, a mucosa without apparent alterations, and the absence of foreign bodies or esophageal stenosis, led us to suspect the presence of an esophageal motility disorder. Other causes of esophageal hypomotility, such as myasthenia gravis (Acetylcholine Receptor Antibodies), were ruled out, and the diagnosis was confirmed through PCR for the N/CMT genotype. The diagnosis of hereditary neuropathy of the Miniature Schnauzer is established through a process of excluding other pathologies that may present esophageal motility disorders and/or megaesophagus and confirming the genetic mutation. However, the chronicity of the process, the age and breed of the animal, the manifested symptoms, and the endoscopic alterations found are factors of great relevance in the diagnosis.