Myopathy Junction and Dystrophinopathies

by Carlo Raj, MD

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    To put things into perspective, where are we at this point? We’re at the myopathies. Look where we are. So, we’ve come out of the anterior horn. The motor would walk through the peripheral neuropathies, walk through neuromuscular junction diseases, and now we’re looking at myopathies. Skeletal muscle disorders. Myopathy. Myopathy is nonspecific, what does it mean? It just means disease of the skeletal muscle. You’d be very, very specific about the definition here, please. Versus dystrophy. We’ll get into muscular dystrophy. What does that mean to you? Hereditary. Under hereditary, we’ll then walk into, obviously, Duchenne, and we’ll also take a look at Becker muscular dystrophy. And I will tell you though, it doesn’t always have to be or have to be associated with the dystrophin gene. It could be, and that’s where our focus shall be. But to be technical, it doesn’t have to be, but, but hereditary is important. Myositis, what does that mean? It means that the muscle is undergoing inflammatory process. Allow the name to speak to you, -itis. Skeletal muscle disorders. We’ll walk through muscular dystrophy, channelopathy is important for us, mitochondrial myopathy, you've heard of MELAS. If you haven’t, it’s okay. I’ll walk you through it. Distal myopathies, inflammatory myopathies, and finally, we’ll end by looking at our endocrine drug and toxic myopathies, just a few words there. Let’s begin. Under muscular dystrophy, we’ll take a look at dystrophinopathies. Under dystrophinopathies, we have Duchenne, DMD, muscular dystrophy. We’ll talk about that in great detail. Becker muscular dystrophy, we’ll talk about that in great detail. These are dystrophies. What does that mean to you? Hereditary. Limb-girdle muscular dystrophy. It’s taken on quite a bit of prominence, so therefore, I must discuss it. And then finally, myotonic dystrophy. As rare as it may be, once...

    About the Lecture

    The lecture Myopathy Junction and Dystrophinopathies by Carlo Raj, MD is from the course Polyneuropathy. It contains the following chapters:

    • Myopathy Junction
    • Dystrophinopathies

    Included Quiz Questions

    1. Charcot Marie tooth disease
    2. Duchenne dystrophy
    3. Limb-girdle dystrophy
    4. Myotonic dystrophy
    5. Becker dystrophy
    1. Fibrofatty tissue accumulation
    2. Muscle hypertrophy
    3. Nerve enlargement
    4. Inflammation and edema
    5. Accumulation of blood
    1. Dilated cardiomyopathy
    2. Restrictive cardiomyopathy
    3. Hypertrophic cardiomyopathy
    4. Mitral valve prolapse
    5. Myocardial infarction
    1. X chromosome
    2. Chromosome 5
    3. Chromosome 16
    4. Chromosome 20
    5. Chromosome 3
    1. Frameshift mutation
    2. Point mutation
    3. Copy number variation
    4. Missense mutation
    5. Nonsense mutation

    Author of lecture Myopathy Junction and Dystrophinopathies

     Carlo Raj, MD

    Carlo Raj, MD

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