Neuromuscular Biopsy

Nerve, muscle, and skin biopsy play important roles in neuromuscular diagnosis. Muscle biopsy can be the most important diagnostic tool in several muscle disorders, including inflammatory myopathies and congenital myopathies, and mitochondrial disorders, where both muscle pathology and genetic testing of muscle cells can be of critical utility. Nerve biopsy is particularly useful to establish a diagnosis in cases of suspected vasculitis or infiltrative conditions. Epidermal nerve fiber density testing from skin biopsy provides a minimally invasive and highly sensitive method to confirm a clinical diagnosis of small fiber neuropathy. In this chapter, we describe the techniques of, and indications for, nerve, muscle, and skin biopsy in neuromuscular disorders.