Keywords Muscular dystrophy, gene therapy, exon skipping, mutation suppression, myostatin, follistatin Introduction Treatment for the muscular dystrophy group of disorders continues to gain momentum based on improvements in therapeutic…
Keywords Glycogen, polyglucosan, rhabdomyolysis, weakness, cramps, enzyme replacement therapy (ERT) Introduction and Background Metabolic myopathies are clinical disorders in which defects of adenosine triphosphate (ATP) production cause muscle dysfunction….
Keywords Orthopedic surgery, pediatric orthopedics, neuromuscular disease, pediatric deformity, scoliosis Introduction Childhood-onset neuromuscular diseases are typically inherited genetic diseases characterized by general neurodevelopmental dysfunction, aberrant muscular function and development,…
Keywords Juvenile idiopathic inflammatory myopathy (JIIM), overlap connective tissue disease, muscle enzymes in JIIM, inclusion body myositis, orbital myositis, myositis specific antibodies, immunogenetics of JIIM, therapy of JIIM Introduction…
Keywords Extraocular, ptosis, strabismus, ophthalmoplegia, pediatric, oculomotor, trochlear, abducens General Principles The extraocular muscles (EOMs) have many anatomic, physiologic, and molecular characteristics distinct from those of other striated muscles….
Keywords Outcome measures, endpoints, trial, neuromuscular disease Introduction: What are Outcome Measures? Good outcome measures are a critical component of any successful therapeutics evaluation program. Although some pediatric neuromuscular…
Keywords Ataxia, cerebellum, episodic ataxia, neurodegeneration, spinocerebellar ataxia Introduction The dominantly inherited ataxias are a heterogeneous group of neurologic disorders that currently include 30 spinocerebellar ataxias (SCAs), the related…
Keywords Rehabilitation therapies, assistive devices, assistive technology, mobility Introduction Rehabilitation is that branch of medicine concerned with helping patients gain optimal function within the scope of their physical and…
Keywords Mitochondrial DNA, nuclear DNA, maternal inheritance, heteroplasmy, intergenomic communication, membrane phospholipids, mitochondrial dynamics, mtDNA depletion, single mtDNA deletions, multiple mtDNA deletions, oxidative stress Introduction Historical Background The history…
Keywords Fatty acid oxidation, lipid storage myopathies, recurrent myoglobinuria Historical Background Defects in fatty acid oxidation (FAO) are an important group of disorders because they are potentially rapidly fatal…
