Electrodiagnosis in Motor Unit Dysfunction

Electrodiagnosis of motor neuron disease.

Electrodiagnostic testing has proved useful in helping to establish the diagnosis of amyotrophic lateral sclerosis by eliminating possible disease mimics and by demonstrating abnormalities in body areas that are clinically unaffected. Electrodiagnosis begins with an understanding of the clinical features of the disease, because clinical correlation is essential. To improve the sensitivity of th...

Gene Therapy: Strategies to Treat Motor Unit Dysfunction.

Pompe disease results from a defi ciency or absence of the lysosomal enzyme acid alpha glucosidase (GAA), resulting in lysosomal glycogen accumulation that impacts cardiac, respiratory and neuromuscular function. Respiratory failure is the leading cause of morbidity and mortality in Pompe patients. AAV vectors expressing GAA are currently being evaluated in a phase I/II study in ventilator-depe...

Reduced endplate currents underlie motor unit dysfunction in canine motor neuron disease.

Hereditary canine spinal muscular atrophy (HCSMA) is an autosomal dominant degenerative disorder of motor neurons. In homozygous animals, motor units produce decreased force output and fail during repetitive activity. Previous studies suggest that decreased efficacy of neuromuscular transmission underlies these abnormalities. To examine this, we recorded muscle fiber endplate currents (EPCs) an...

Electrodiagnosis in Cranial Botulism

Botulism is an acute neurologic disorder that causes potentially life-threatening neuroparalysis resulting in weakness and laccid paralysis. In addition to the autonomic nervous system, botulism may involve only the cranial nerves, thus posing special diagnostic problems. Almost all cranial nerves are not easily testable. The anatomical and physiological characteristics of the spinal accessory ...

Ophthalmic Electrodiagnosis