necrotizing myelopathy (HNM)

A variant in the gene IBA57 was found in the breed Kooikerhondje that causes necrotizing... more
Заболевание
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.
Порода
коикерхондье
Тип наследования
autosomal recessive
Длительность теста
3 - 5 days after arrival of the sample in the lab (in case of sequencing 1 - 2 weeks)
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