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Description
A neuromuscular disorder similar to symptoms of central myopathy. In sick animals, the level of synthesis of myotubularin, a phosphatase involved in the control of the processes of growth, proliferation and differentiation of cells, is significantly reduced. Defects in this protein are accompanied by impaired muscle maturation.
The disease is linked to the X chromosome, and therefore mainly occurs in males. The appearance of a sick bitch is possible only if both parents passed on a copy of the mutant allele, but since males are usually euthanized at an early age, they do not have time to give birth.
Symptoms
The first symptoms appear in puppies between 7 and 19 weeks of age. Signs of the disease include skeletal muscle atrophy, muscle weakness, stunted growth, nutritional problems due to weakness in the chewing muscles, hoarse barking, and sudden falls when walking. The disease progresses rather quickly, and puppies lose the ability to stand and raise their head 3-4 weeks after the first symptoms appear.
Diagnostics
Characteristic changes in the behavior and physiology of the dog.
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