Introduction Mononeuropathies are rare in children, accounting for fewer than 10% of pediatric referrals for electromyographic (EMG) testing. This is in contrast to adults, in whom as many as 30% of EMG referrals are for investigation and characterization of discrete…
Introduction Facial palsy is one of the most frequent mononeuropathies in the pediatric age group. The diagnosis of idiopathic benign Bell’s palsy is based on exclusion of other acquired central or peripheral nervous system conditions, some of which have more…
Anatomy In total, there are 31 spinal nerve root pairs: 8 in relation to the 7 cervical vertebrae, 12 thoracic, 5 lumbar, 5 sacral, and 1 coccygeal. In general, one nerve root is adjacent to each vertebra, but the cervical…
Introduction The stiff-man syndrome (SMS, also known as stiff-person syndrome) is a rare central nervous system autoimmune disease, but is likely underrecognized. This disorder has only been rarely reported in children. Most of the available literature is in case report…
Infantile Poliomyelitis Historical Background To many physicians in the developed world, poliomyelitis serves as a dramatic example of how basic virologic methods can lead to vaccine development and almost complete eradication of a human viral infection and crippling neuromuscular disease.…
Introduction The motor neuron diseases (MNDs) constitute a debilitating range of disorders that cause variable disability and affect all ages from neonates to the elderly. The best known, most aggressive, and most common MND in adults is amyotrophic lateral sclerosis…
Introduction Spinal muscular atrophies (SMAs) are genetic disorders that are clinically characterized by progressive muscle weakness and atrophy, associated with degeneration of spinal and, in the most severely affected patients, lower bulbar motor neurons. Classic proximal SMA is the most…
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…
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…
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…