X-Linked Myotubular Myopathy
This is a degenerative muscle disease that stems from a deficiency in the protein myotubularin, which is thought to be important for the development and maintenance of muscle cells. Loss of myotubularin causes muscle fiber damage and death, leading to replacement of the muscle mass with scar tissue.
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Signs and symptoms
Affected puppies present with failure to thrive and weakness. This rapidly progresses to difficulty eating and breathing.
Signs first appear in puppies.Uncover health risks with Embark
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Diagnosis
Genetic testing, clinical signs, and muscle biopsy can be used to diagnose this disorder.
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Treatment
Unfortunately, there is currently no treatment for XLMTM and owners often choose euthanasia.
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What to do if your dog is at risk
Actions
- Keeping your affected puppy comfortable and giving them the best quality of life you can are the only actions you can take at home.
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Genetic Information
This mutation was first characterized in the Labrador Retriever.
This mutation has a sex-linked recessive inheritance pattern, which means that the gene is on the X chromosome. Females have two X chromosomes and must inherit two abnormal copies to be affected with this disease. Males have only one X chromosome and either have a normal copy of the gene or the mutation.
Gene names:
MTM1 (Exon 7) ‐ chr
Inheritance type:
X-linked recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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