Radiculopathies and Plexopathies
Keywords Nerve root, radiculopathy, plexus, plexopathy, brachial, lumbosacral Anatomy In total, there are 31 spinal nerve root pairs: 8 in relation to the 7 cervical vertebrae, 12 thoracic, 5…
Spinal Muscular Atrophies
Keywords Spinal muscular atrophy, 5q SMA, non-5q SMAs, survival of motor neuron protein, Werdnig-Hoffman disease, Dubowitz disease, Kugelberg-Welander disease Introduction Spinal muscular atrophies (SMAs) are genetic disorders that are…
The Stiff-man Syndrome in Children and Adolescents
Keywords Stiff man, stiff person, stiff child, autoimmune, GAD antibody, GAD65 antibody, diabetes, thyroid, glycine Introduction The stiff-man syndrome (SMS, also known as stiff-person syndrome) is a rare central…
Infectious or Acquired Motor Neuron Diseases
Keywords Poliomyelitis, vaccine associated poliomyelitis, post-polio syndrome, Hopkins syndrome, rabies, tetanus Infantile Poliomyelitis Historical Background To many physicians in the developed world, poliomyelitis serves as a dramatic example of…
Juvenile Amyotrophic Lateral Sclerosis
Keywords Juvenile amyotrophic lateral sclerosis, jALS, ALS, degenerative motor neuron disease, distal hereditary motor neuropathy (dHMN), distal SMA, Brown-Vialetto-Van Laere (BVVL) syndrome, Madras Motor Neuron Disease (MMND), hereditary spastic paraparesis…
Arthrogryposis
Keywords Arthrogryposis, fetal akinesia sequence, multiple congenital contractures, myasthenia syndromes Introduction Arthrogryposis is a term used to describe the presence of multiple contractures of joints in more than one…
Neonatal Hypotonia
Keywords Hypotonia, clinical assessment, distinguishing features, anatomic loci Introduction Neonatal hypotonia, manifested by the clinical appearance of a “floppy infant” ( Figure 6.1 ) and by diminished resistance to…
Neonatal Hypotonia
Keywords Hypotonia, clinical assessment, distinguishing features, anatomic loci Introduction Neonatal hypotonia, manifested by the clinical appearance of a “floppy infant” ( Figure 6.1 ) and by diminished resistance to…
Electromyography in Pediatrics
Keywords Electromyography, pediatrics, neural conduction, infant, neonate Introduction This chapter discusses the use and techniques of pediatric electromyography (EMG). In a comprehensive text on neuromuscular disease such as this,…
Genetics of Neuromuscular Disorders
Keywords Genetic testing, genetic, genomic, mutation, chromosome microarray, DNA sequencing, whole exome sequencing, muscular dystrophy, Duchenne muscular dystrophy Introduction Many neuromuscular disorders in children are single gene disorders, and…
