Spinal muscular atrophy (SMA)
Spinal muscular atrophy (SMA)
General description
SMA is a disorder caused by death of spinal cord neurons that activate skeletal muscles of the trunk and limbs. Loss of neurons in the first few months of life leads to muscle weakness and atrophy that first becomes apparent at 3-4 months of age. Affected kittens develop an odd gait with a sway of the hindquarters and stand with the hocks nearly touching.
Breeds
Maine Coon
Order details
| Test number | 8123 |
| Abbreviation | SMA |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 5-7 working days |
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive |
| Age of onset | 12 weeks |
| Causality | causally |
| Gene | LIX1 |
| Mutation | COMPLEX |
| Literature | OMIA:002389-9685 |
Detailed description
SMA is a disorder caused by death of spinal cord neurons that activate skeletal muscles of the trunk and limbs. Loss of neurons in the first few months of life leads to muscle weakness and atrophy that first becomes apparent at 3-4 months of age. Affected kittens develop an odd gait with a sway of the hindquarters and stand with the hocks nearly touching. They may also stand with toes out in the front. By 5-6 months of age they are too weak in the hindquarters to readily jump up on furniture and often have a clumsy landing when jumping down. The long hair Maine Coon cats may hide it, but careful feeling of the limbs will reveal reduced muscle mass.
