Inherited Myopathies: Types

by Roy Strowd, MD

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    00:00 So as we think about inherited myopathies, we can group them into 5 main categories. There are muscular dystrophies. These are progressive conditions where patients get weak. It follows a typical myopathic pattern of proximal weakness, absent sensory findings, and normal reflexes and progresses over time. With many muscular dystrophies, we see increase in CK and that should guide us towards evaluating these genetic causes of muscle disorder. This is different from congenital myopathies, which will be the second group to review. Those are static myopathies. They cause weakness that tends to not progress over time. Ion channel disorders are intermittent so patients are weak sometimes and not weak other times, and that's an important tip off to test for ion channel disorders. And then the 2 final buckets are mitochondrial myopathies and metabolic myopathies, which typically present with rhabdomyolysis. The focus of our discussion in the following lectures will be on muscular dystrophies and congenital myopathies. The ion channel disorders, the mitochondrial, the metabolic myopathies are less common and so we're going to focus on the first 2 categories of this disorder.

    About the Lecture

    The lecture Inherited Myopathies: Types by Roy Strowd, MD is from the course Hereditary Neuromuscular Disorders.

    Included Quiz Questions

    1. Ion channel disease can present with intermittent weakness.
    2. Mitochondrial myopathy does not cause rhabdomyolysis.
    3. Congenital myopathy is a progressive disease with worsening symptoms.
    4. Muscular dystrophy often results in hyperreflexia.
    5. CK levels are normally low in patients with inherited myopathies.

    Author of lecture Inherited Myopathies: Types

     Roy Strowd, MD

    Roy Strowd, MD

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