Nemaline Myopathy

Muscular

Named for the thread-like inclusions seen on microscopic examination of affected muscle samples, Nemaline Myopathy (NM) causes generalized skeletal muscle weakness.

  • Signs and symptoms

    Affected dogs may show non-progressive generalized muscle weakness, decreased muscle tone (hypotonia), exercise intolerance, and tremors. Chronic cases can also present with lethargy, reduced appetite, abdominal distension, and muscle wasting.

    Affected dogs may begin displaying signs as early as two months of age.

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  • Diagnosis

    Diagnosis is made based on clinical history, physical examination, laboratory values, and genetic testing. Rod bodies in a skeletal muscle biopsy, elevated creatine kinase (CK) in serum, and changes to electromyography (EMG) and motor nerve conduction velocity (MNCV) testing results may be observed.

  • Treatment

    There is no cure for NM; all currently available treatments are symptomatic or supportive in nature.

  • What to do if your dog is at risk

    Actions

    • Keeping your affected dog comfortable and giving them the best quality of life you can are the only actions you can take at home.
    • Slings can be used to assist with their mobility, and caution should be taken to avoid falling hazards.

  • Genetic Information

    This variant was first described in American Bulldogs.

    Nemaline Myopathy is recessive, that is, a dog requires two copies of the variant to show signs of the disease from the variant.

    Gene names:

    NEB ‐ chr

    Inheritance type:

    recessive

  • Breeds affected

    This health condition affects the following breeds

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