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Laboratory evaluation of muscle disorders

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Abstract

Muscle disease can affect skeletal (striated), cardiac and, more rarely, smooth muscle. It can be primary or secondary to other systemic disorders but can be difficult to recognize clinically owing to its non-specific signs. Even when muscle disease is supected, the appropriate diagnostic work-up is often poorly understood and test results can be misinterpreted. This chapter discusses clinical sign sof muscle disorders, laboratory evaluation of muscle disorders and tests used in the investigation of skeletal (striated) muscle disorders. Case examples are included.

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Figures

Image of 24.6
24.6 A diagram to illustrate taking a muscle biopsy sample. The tissue is grasped at one end and carefully dissected away from the rest of the muscle without touching the body of the sample.
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24.7 Histochemical staining of frozen muscle sections. (a) Haematoxylin and eosin staining of normal canine muscle: the muscle proteins are pink and the nuclei are purple. (Original magnification X180). (b) ATPase, pH 4.3 staining of normal canine muscle. Three different staining intensities are present. Type 2A and B fibres are the palest, type 2 (dog) fibres are intermediate and type 1 fibres are the darkest. (Original magnification X150). (c) Periodic acid–Schiff (PAS) staining. This muscle biopsy was taken from a young Great Dane with a central core-like myopathy. The central cores contain a lot of glycogen and therefore stain an intense pink colour with PAS. (Original magnification X150). (d) A section of normal muscle stained with NADH tetrazolium reductase (NADH-TR). This stain highlights oxidative activity in mitochondria and the endoplasmic reticulum. In normal muscle this produces a delicate pattern of staining of the intermyofibrillar network. (Original magnification X270). (e) Modified Gomori trichrome staining. This section of muscle was taken from a young Jack Russell Terrier with a suspected mitochondrial cytopathy. The muscle proteins stain green and the mitochondria stain red. The mitochondrial accumulations beneath the sarcolemma are clearly highlighted. (Original magnification X150).
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24.8 Labrador Retriever demonstrating poor body condition with a generalized lack of muscle mass.
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24.9 Frozen sections of the biceps femoris muscle (a) stained with haematoxylin and eosin and (b) stained immunohistochemically for dystrophin. There is marked variation in myofibre size and normal subsarcolemmal distribution of dystrophin.
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24.10 Miniature Pinscher at the time of presentation, showing the thin haircoat, the palmigrade stance and hyperextended hindlimbs. The dog also had a lipoma in the left thoracic region that is visible in this image.

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