Charcot-Marie-Tooth Neuropathy (CMT, ITPR3-related) – Lancashire Heeler
Kodas: H171
Short description
Charcot-Marie-Tooth Neuropathy (CMT) is a group of hereditary neurological disorders that affect the peripheral nervous system.
General information
Charcot-Marie-Tooth Neuropathy (CMT) is a group of hereditary neurological disorders that affect the peripheral nervous system. An autosomal recessive mutation in a gene called inositol 1,4,5-trisphosphate receptor type 3 (ITPR3) has been linked to CMT. The ITPR3 gene is involved in the regulation of calcium release from internal cell stores, which is crucial for nerve cell function. When this gene is mutated, it can lead to peripheral nerve degeneration, affecting the communication between the brain and muscles. This variant of CMT is found in the Lancashire Heeler breed.
Specifications
| Breeds | |
|---|---|
| Gene | ITPR3 |
| Chromosome | 12 |
| Mutation | c.5002C>T |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CMT |
Clinical features
Dogs with CMT typically show signs of progressive weakness and muscle wasting. The symptoms can vary in severity, but common signs include weakness in the limbs (especially the hind limbs), difficulty walking with sometimes an abnormal gait (e.g., a "high-stepping" or stilted walk), muscle atrophy in the legs and reduced coordination or ataxia. Furthermore there can be reduction in reflexes and in some cases pain or discomfort in the affected areas. These symptoms typically become noticeable in young dogs, often between the ages of 1 and 2 years, and they progressively worsen over time.
References
Pubmed ID: 39804930
Year published: 2025
Omia ID: 2916
Omia variant ID:
Turnaround information
- 10 working days