Clinical Trials in Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by muscle atrophy and weakness due to degeneration of the anterior horn cells in the spinal cord. A great need…
Respiratory Treatment of Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease with no known cure. The major cause of mortality and major morbidities is related to the effects of the disease on the…
Fatigue in Amyotrophic Lateral Sclerosis
Fatigue is a common and potentially debilitating symptom of amyotrophic lateral sclerosis (ALS). Questionnaire studies show that ALS subjects have increased subjective fatigue. Physiologic studies demonstrate that ALS subjects have…
Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis
Cognitive impairment in amyotrophic lateral sclerosis (ALS) is correlated with pathologic and radiographic changes in cerebral cortex beyond the motor regions. Clinically, evidence of impairment can be detected in up…
Nutrition and Dietary Supplements in Motor Neuron Disease
Compromised nutrition leading to weight loss is a common and significant problem in the amyotrophic lateral sclerosis (ALS) patient population. The benefit of aggressive and early nutritional therapy can profoundly…
Quality of Life in Amyotrophic Lateral Sclerosis
Although quality of life is difficult to define clearly, a number of instruments and questionnaires have been developed and applied to patients who have amyotrophic lateral sclerosis (ALS). This article…
Designing Clinical Trials in Amyotrophic Lateral Sclerosis
Clinical trials in amyotrophic lateral sclerosis have significantly evolved over the last decade. New outcome measures have been developed that have reduced the sample size requirement as compared with survival…
The Role of Exercise in Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting the motor nervous system. It causes progressive and cumulative physical disabilities in patients, and leads to eventual death due to respiratory…
Motor Unit Number Estimation in the Assessment of Performance and Function in Motor Neuron Disease
Motor unit number estimation (MUNE) is a unique electrophysiologic test used to estimate the number of surviving motor units in a muscle or group of muscles. It is used most…
Androgen Receptor Function in Motor Neuron Survival and Degeneration
Polyglutamine repeat expansion in the androgen receptor is responsible for the motor neuron degeneration in X-linked spinal and bulbar muscular atrophy (SBMA; Kennedy’s disease). This mutation, like the other polyglutamine…
