Introduction: What are Outcome Measures? Good outcome measures are a critical component of any successful therapeutics evaluation program. Although some pediatric neuromuscular diseases are now seeing discoveries translated into early-phase clinical trials, there remains a great need for better therapeutics.…
Introduction Rehabilitation is that branch of medicine concerned with helping patients gain optimal function within the scope of their physical and cognitive limitations. The development and implementation of a realistic and cost-effective rehabilitation program for the patient necessitates a “correct…
Introduction Childhood-onset neuromuscular diseases are typically inherited genetic diseases characterized by general neurodevelopmental dysfunction, aberrant muscular function and development, and resulting pediatric deformity. This population often requires early orthopedic intervention to address mobility and motor deficits, and in some cases…
Introduction Treatment for the muscular dystrophy group of disorders continues to gain momentum based on improvements in therapeutic strategies, facilitated by a greater availability of funding for translational research. This review emphasizes the progress made for Duchenne muscular dystrophy (DMD)…
Introduction The dominantly inherited ataxias are a heterogeneous group of neurologic disorders that currently include 30 spinocerebellar ataxias (SCAs), the related disorder dentatorubral-pallidoluysian atrophy (DRPLA), and 7 episodic ataxias (EAs). The number of these disorders will undoubtedly grow as only…
Introduction In 1863, Nicholaus Friedreich, professor of medicine in Heidelberg, Germany, wrote three articles “about a degenerative atrophy of the posterior columns of the spinal cord” causing progressive ataxia, sensory loss, and muscle weakness. The cause of what was called…
Introduction The definitions of reflex sympathetic dystrophy (RSD) and causalgia syndromes have been revised recently to avoid implicating the sympathetic nervous system in treatment or mechanism; the syndromes have been renamed with the clinically descriptive terms of complex regional pain…
Introduction Sucking, chewing, and swallowing are vital functions that are dependent upon the coordinated interaction of a set of neural structures designated by several authors as the “oromotor system” (OMS). Also dependent on this system are other not-so-vital but important…
General Principles The extraocular muscles (EOMs) have many anatomic, physiologic, and molecular characteristics distinct from those of other striated muscles. These unique characteristics, which likely developed in response to the specialized demands placed on EOMs, including tonic position, maintaining contractures,…
Malignant Hyperthermia—Deaths in General Anesthesia The name malignant hyperthermia (MH) is derived from the clinical observations of Denborough and Lovell, who analyzed the unexplained deaths of previously asymptomatic patients undergoing general anesthesia in 1960. These patients exhibited symptoms of muscle…