Centronuclear Myopathy, CNM
This muscle disorder is characterized by exercise intolerance, weight loss, and muscle wasting. CNM stems from a mutation in the PTPLA gene which codes for an enzyme important for a number of cellular processes. Loss of PTPLA function is thought to cause muscle fiber damage and death, leading to replacement of the muscle mass with scar tissue.
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Signs and symptoms
Signs include muscle weakness, wasting, and loss of muscle control leading to difficulty walking, eating and even breathing.
While abnormal tendon reflexes can be observed as early as 1 month, the symptoms of exercise intolerance and weight loss can be observed by 2 to 4 months of age.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
There is no treatment for CNM, and most owners opt for euthanasia due to poor quality of life.
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What to do if your dog is at risk
Actions
- Talk to your vet about your dog’s CNM result so you can plan appropriate care and monitoring.
- Signs such as exercise intolerance, stiffness, or weakness may appear early in life and can progress gradually.
- Keep your dog’s environment calm and safe with good traction to prevent slipping and injury.
- Gentle, low-impact activity and supportive care can help maintain muscle strength and comfort over time.
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Genetic Information
This mutation was first described in Labrador Retrievers.
This disease is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the mutation to show clinical signs.
Gene names:
PTPLA ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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