Lab Values in the Management of Dysphagia
Why Should Clinicians Care? When treating patients with dysphagia, it is important to evaluate the whole patient. The patient, the family, and the medical team consult the speech-language pathologist for…
Basic Neurophysiology Review
Why Should Clinicians Care? • Understanding the basic neurophysiology of the swallow mechanism will help clinicians identify the underlying pathophysiology and the level at which the swallowing system is not…
Anatomy and Physiology
Muscles of the Swallow, Action, Innervation, and Clinical Relevance Muscles of the lips and face are a complex orientation of fibers that act in a synergistic action to generate precise…
Muscle Biopsy Evaluation
Fig. 1.1 Orientation of the muscle biopsy. (a) Larger specimens can sometimes be oriented with the naked eye, but in many cases, the use of a dissecting microscope can ensure…
Nerve Biopsy Evaluation
Fig. 2.1 Properly clamped peripheral nerve is fixed in glutaldehyde for resin embedding and EM processing Once in pathology laboratory, the fresh specimen is snap frozen in isopentane cooled in…
Biopsy with Cutaneous Nerve Fiber Evaluation
Fig. 3.1 3-mm punch skin biopsy for diagnosing small fiber neuropathy. (a) After cleaning the biopsy site, a 3-mm punch is placed on the site perpendicular to the skin surface…
45-Year-Old Woman with Proximal Limb Weakness and Skin Peeling on Fingertips
Fig. 5.1 Hematoxylin and eosin stain (HE) shows active myopathy with a large collection of lymphocytic infiltrates in perimysium and surrounding a perimysial blood vessel. Alkaline phosphatase stain (ALK) shows…
3-Month-Old Boy with Generalized Hypotonia, Weakness, Pneumonia and Respiratory Failure
Fig. 31.1 SMA type 1 . (a) H&E and (b) ATPase at pH 9.4 are images from the rectus abdominis muscle biopsy performed at age of 3 months. (c) H&E of spinal…
6-Year-Old Girl with Muscle Pain and Swelling in the Thighs
Fig. 23.1 Quadriceps muscle biopsy from this patient. (a) H&E stain, arrows point to the macrophages in perimysium and endomysia connective tissue with granular basophilic cytoplasm. (b) Nonspecific esterase stain,…
6-Year-Old Boy with Respiratory and Feeding Difficulties at Birth, Delayed Gross Motor Milestones, and Facial and Proximal Lower Limb Weakness
Fig. 29.1 Representative images from a separate 10-year-old boy with RYR1 mutation. (a) H&E stain shows marked fiber size variation. (b) NADH-TR stain shows well demarcated central cores in type…
