Neuromuscular disorders : NMD
-
We constructed a patient-based interval scale using Rasch analysis, specifically suited to quantify the effects of Pompe disease on patient's ability to carry out daily life activities and their social participation: Rasch-built Pompe-specific Activity scale. Between July 2005 and April 2011, 186 patients aged 16 or older, participated to develop this scale. External construct validity was determined through correlations with the MRC sumscore and Rotterdam Handicap Scale. ⋯ Of the original 49 items, 31 were removed after investigation of model fit, internal reliability, threshold examination, item bias, and local dependency. The remaining 18 items were ordered on a linearly weighted scale and demonstrated good discriminative ability (Person Separation Index 0.96), external construct validity (intraclass correlation coefficient (ICC) for MRC sumscore 0.82, and for the Rotterdam handicap scale 0.86), reliability of person's location (ability comparison: ICC 0.95), and responsiveness. We therefore conclude that the R-PAct scale enables us to accurately detect limitations in activities and social participation throughout the entire disease spectrum in patients with Pompe disease.
-
Motor neuron diseases as amyotrophic lateral sclerosis and post-polio syndrome are characterized by prominent muscular weakness and severe motor disability. The prevalence of fatigue in motor neuron diseases is remarkably high, and may contribute significantly to patients' disability and a poor quality of life. Despite its high prevalence, fatigue is an understudied clinical problem in motor neuron diseases and is often overlooked. The present review will attempt to explain the pathogenic mechanisms of muscle fatigue in amyotrophic lateral sclerosis and post-polio syndrome, to cover the various methods of quantification of fatigue that measure both subjective and physiological components, and to summarize the evidence regarding therapeutic interventions that can be used in order to minimize this symptom.
-
Neuromuscul. Disord. · Dec 2012
Case ReportsFat Embolism Syndrome following minor trauma in Duchenne muscular dystrophy.
We describe five patients with Duchenne muscular dystrophy who presented with acute neurologic and respiratory symptoms following minor trauma. Four of the five deteriorated rapidly and died within 36 h after falling. X-rays for fractures were negative. ⋯ Fat Embolism Syndrome needs to be considered in patients with Duchenne muscular dystrophy following minor trauma even without fractures. Early recognition of Fat Embolism Syndrome and aggressive resuscitation are important to improve survival. This report serves as an important reminder that seatbelts need to be used at all times.