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Arthrogryposis

Introduction Arthrogryposis is a term used to describe the presence of multiple contractures of joints in more than one area that are present at birth. The extended term, arthrogryposis multiplex congenita (AMC), has also been used historically to describe multiple congenital contractures (arthro=joint; gryp=curved; multiplex=multiple; congenita=present at birth). Such contractures are usually nonprogressive and may respond to physical therapy and orthopedic procedures. Arthrogryposis has been recognized…

Neonatal Hypotonia

Introduction Neonatal hypotonia, manifested by the clinical appearance of a “floppy infant” ( Figure 6.1 ) and by diminished resistance to passive movement, is the principal presenting feature of most neuromuscular disorders of the newborn. Thus, the disorders responsible for the hypotonia are discussed throughout this book. This chapter reviews the major features of the examination of a newborn with neonatal hypotonia and a suspected neuromuscular…

Nerve Biopsy

Introduction Although the rapidly expanding area of molecular genetics has reduced the necessity of invasive investigations, peripheral nerve biopsy remains a valuable diagnostic aid when used appropriately. There are now specific DNA tests for a number of the demyelinating hereditary sensorimotor neuropathies. On the other hand, many axonopathies remain poorly understood and difficult to categorize. Nerve biopsy is particularly useful in the evaluation of a child…

Muscle Biopsy for Diagnosis of Neuromuscular and Metabolic Diseases

Introduction In the 1960s and early 1970s, histochemical stains were for the pathological examination of the routine muscle biopsy to define myofiber types and certain metabolic disturbances, and they continue to be the standard of diagnostic examination of the muscle biopsy. Transmission electron microscopy (EM) of the muscle biopsy began in earnest a decade earlier, but the findings and their interpretation were greatly expanded during the…

Electromyography in Pediatrics

Introduction This chapter discusses the use and techniques of pediatric electromyography (EMG). In a comprehensive text on neuromuscular disease such as this, targeted towards clinicians in neuromuscular medicine, the intention of this chapter is not to make readers experts in the art of the EMG, but rather to present a brief summary of the use of EMG in children to foster awareness of what is possible.…

Genetics of Neuromuscular Disorders

Introduction Many neuromuscular disorders in children are single gene disorders, and therefore genetics plays a primary role in the diagnosis of many neuromuscular conditions. Establishing a definitive molecular genetic diagnosis provides clarity about prognosis; suggests possible therapeutic strategies; allows patients, families, and providers to access appropriate clinical trials, research studies, centers of excellence, and family support organizations; and provides parents and other family members with critical…

Prospects for a Robust Cortical Recording Interface

Acknowledgments The authors thank Erika Woodrum and the FES Center for their assistance in preparing illustrations. This work was supported by the Office of the Assistant Secretary of Defense for Health Affairs through the Peer Reviewed Medical Research Program under Awards W81XWH-15-1-0607 and W81XWH-15-1-0608. Opinions, interpretations, conclusions, and recommendations are those of the authors and are not necessarily endorsed by the Department of Defense. Additionally, this…

Introduction : Historical Perspectives

The field of pediatric neuromuscular disorders has continued to expand scientifically since the era of molecular neurogenetics began in the mid-1980s. The rapid changes in the field may be overwhelming to busy, practicing clinicians on a day-to-da… Introduction The role of the clinician in the diagnosis and treatment of a weak child is as important today as it was in the 19th century, when pediatric neuromuscular…

Invasive Brain–Computer Interfaces for Functional Restoration

Introduction Neurological and neuroanatomical injuries and disorders affect a large number of people worldwide, and often result in movement impairment and inability to perform everyday tasks, such as communicating, reaching, and grasping, independently. Persons who have experienced neurological injuries, such as spinal cord injury (SCI), amyotrophic lateral sclerosis, or stroke, can achieve partial restored function through cortical prosthetic systems. A cortical prosthesis is an end effector…

Noninvasive Brain–Computer Interfaces

Acknowledgments This work was supported by the NIH (EB00856, EB006356, and EB018783), the US Army Research Office (W911NF-08-1-0216, W911NF-12-1-0109, W911NF-14-1-0440), and Fondazione Neurone. Introduction Overview of This Chapter Brain–computer interfaces (BCIs) measure brain activity, extract features from that activity, and convert those features into outputs that replace, restore, enhance, supplement, or improve human functions. BCIs may replace lost functions, such as speaking or moving. They may…

Brain–Computer Interfaces: Why Not Better?

Acknowledgments I would like to thank the many students and colleagues who are or have been part of the Brown University team that has laid the groundwork and implemented the translation of brain–computer interfaces, as well as the larger Braingate team, which includes Case Western Reserve University and Stanford, for their energy, dedication, intelligence, and exceptional collaborative spirit (they can be found at www.braingate.org ). I…

MRI Safety and Neuromodulation Systems

Introduction Magnetic resonance imaging (MRI) has been utilized in the clinical setting for more than three decades. During this time, the technology has continued to evolve to improve image quality, acquisition time, and patient comfort. These changes have yielded MRI systems with more powerful static magnetic fields, faster and stronger gradient magnetic fields, and improved radiofrequency (RF) transmission coils. The short-term exposures to the electromagnetic fields…

Designing Neuromodulation Devices for Feedback Control

Overview Neural stimulation is an established therapy for the treatment of chronic pain ( ), movement disorders ( ), epilepsy ( ), and urinary and bowel control ( ), and is now being investigated for numerous other psychological and neurological disorders. For many neuromodulation systems therapy parameter determination is limited to physician programming, resulting in parameters that are static between clinic visits, potentially for months at…

Microstimulators: Minimally Invasive Implantable Neuromodulatory Devices

Background The International Neuromodulation Society defines therapeutic neuromodulation as “the alteration of nerve activity through the delivery of electrical stimulation or chemical agents to targeted sites of the body” ( ). Neuromodulation is often used to replace surgery with implanted neurostimulators that use electrical current to affect neuromodulation. Neurostimulators were originally developed by adapting cardiac pacing technology, and it is not surprising that most neurostimulators are…

Implantable Neural Stimulators

Introduction Implantable neurostimulators are the tools used by clinicians to execute the various and diverse neuromodulation therapies. Just as it is important for the engineers developing these stimulators to understand the diseases, disorders, and injuries the devices will treat, so it is important for the clinicians using them to understand how these devices operate, the tradeoffs involved in their design, and the capabilities and limitations of…

Electrodes for the Neural Interface

Introduction The neural interface can be unidirectional or bidirectional. It is the bridge between the biotic and abiotic systems where information from an engineered system is transferred to the neural system and/or information from the neural system is transferred to an engineered system. Historically, transfer of information to the neural system has been called “stimulation,” and transfer of information from the neural system has been called…

Mechanisms of Action of Sacral Nerve and Peripheral Nerve Stimulation for Disorders of the Bladder and Bowel

Introduction The pelvic visceral organs perform essential excretory functions that are mediated by complex neural circuitry in the brain and spinal cord. Accordingly, injuries or diseases at various sites in the nervous system can produce prominent changes in micturition and defecation. The pelvic organs have a similar peripheral efferent innervation that originates in the lumbosacral spinal cord ( Fig. 19.1D ) ( ). The organs also…

Vagus Nerve Stimulation: Mechanism of Action

Anatomy of the Vagus Nerve The vagus nerve is the 10th cranial nerve, which is a mixed nerve consisting of approximately 80% afferent and 20% efferent fibers ( ). A schematic overview of the anatomic pathways is provided in Fig. 18.2 . The nerve exits the brainstem bilaterally at the level of the medulla oblongata and leaves the skull through the foramen magnum to run in…

Mechanisms of Action of Deep Brain Stimulation: A Review

Acknowledgments The authors wish to acknowledge Penelope S. Duffy, PhD, for her substantial scientific writing and editing contributions, without which this chapter would not have been possible. Introduction The modern history of the therapeutic application of high-frequency electrical stimulation to deep brain structures, now called deep brain stimulation (DBS), began in when Benabid et al. first described it as a treatment for intractable tremor. By the late…

Fundamentals and Mechanisms of Dorsal Root Ganglion Stimulation

Authorship Statement All authors made a substantial contribution to the study’s concept and design and approved the final version of the manuscript. Conflict of Interest Statement Drs. Kramer, Kent, and Cusack are employees of St Jude Medical. Introduction Electrical neuromodulation for the relief of chronic pain has a long and colorful history, beginning with the often-repeated anecdotes involving electric fish ( ), spanning galvanic applications of…