Nekrotisierende Myelopathie (ENM)
Necrotizing myelopathy (HNM)
General description
A variant in the gene IBA57 was found in the breed Kooikerhondje that causes necrotizing myelopathy (HNM). First clinical signs are paresis and ataxia with an onset at 3-12 months of age in the hind limbs of affected dogs. The severity of the symptoms is progressive, leading to tetraparalysis before the age of 2 years.
Breeds
Kooikerhondje
Order details
| Test number | 8869 |
| Abbreviation | ENM |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive |
| Age of onset | 3-12 months |
| Causality | causally |
| Gene | IBA57 |
| Mutation | G-A |
| Literature | OMIA:000706-9615 |
Detailed description
A variant in the gene IBA57 was found in the breed Kooikerhondje to cause necrotizing myelopathy (HNM). First clinical signs are paresis and ataxia with an onset at 3-12 months of age in the hind limbs of affected dogs. The severity of the symptoms is progressive, leading to tetraparalysis before the age of 2 years. Neurological examination showed exaggerated spinal reflexes in the hind limbs. No abnormalities were detectable in routine blood examinations. Abnormalities suggestive of spinal cord disorders were seen in an MRI scan. Post-mortem examination of affected dogs revealed a symmetric bilateral necrotizing myelopathy with malacia (abnormal softening) in the ventral and dorsal white matter of the spinal cord. Due to worsening of their health condition, affected dogs had to be euthanized.
