X-Linked Myotubular Myopathy

Body function:

Muscle & Neurological

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X-linked myotubular myopathy (XLMTM) is a severe, inherited muscle disorder that predominantly affects Rottweilers and Golden Retrievers. This condition is characterized by progressive muscle atrophy, typically seen in puppies around 7 weeks. While puppies may appear normal at birth, the disease progresses rapidly, leading to significant muscle weakness and coordination issues. The disorder is linked to the X chromosome and manifests in males who inherit the mutated gene from their mother. Female dogs can be carriers of the mutation but usually do not show symptoms unless they inherit two copies of the defective gene.

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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

Labrador Retriever

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What does this mean for a dog with this trait?

Managing a dog with XLMTM is challenging due to the progressive nature of the disease. There is no cure for XLMTM, and the primary approach focuses on supportive care to maintain quality of life as long as possible. This includes providing a comfortable, safe environment to minimize stress and prevent injuries caused by coordination problems. Nutritional support may be necessary to ensure that the dog maintains an adequate weight and energy levels, although feeding can be difficult due to muscle weakness. Unfortunately, due to the severe and progressive nature of XLMTM, many affected dogs may require euthanasia before reaching 6 months of age to prevent further suffering.

Symptoms

The clinical signs of XLMTM become noticeable early in a puppy’s life. Although puppies may initially appear healthy, muscle atrophy becomes apparent by the time they are around 7 weeks old. Affected puppies often appear smaller and weaker compared to their littermates. As the disease progresses, these puppies struggle with basic motor functions such as holding their head up, standing, or moving without collapsing after exertion. The muscle weakness leads to severe coordination problems, making simple actions like standing or walking increasingly difficult. Within a few weeks, the condition may escalate to a point where puppies are unable to stand or may collapse frequently, which results in significant impairment of their overall mobility.

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