J Investig Med High Impact Case Rep
December 2021
Dysphagia can be one of the manifestations of inflammatory myopathies (IMs). In some patients, it can be one of the presenting symptoms or the only symptom. We present a patient with dysphagia and progressive muscle weakness who was eventually diagnosed with inclusion body myositis (IBM).
View Article and Find Full Text PDFMyasthenia gravis (MG) and Guillain-Barré Syndrome (GBS) are autoimmune neuromuscular disorders that may present as neuromuscular emergencies requiring mechanical ventilation and critical care. Comparative outcomes of these disease processes, once severe enough to require mechanical ventilation, are not known. In this study, we compared the patients requiring mechanical ventilation in terms of in-hospital complications, length of stay, disability, and mortality between these two disease entities at a national level.
View Article and Find Full Text PDFBackground And Purpose: There is evidence that racial and ethnic differences among intracerebral hemorrhage (ICH) patients exist. We sought to establish the occurrence of disparities in hospital utilization in the United States.
Methods: We identified ICH patients from United States Nationwide Inpatient Sample database for years 2006-2014 using codes (DX1 = 431, 432.
Wound botulism is a potentially lethal condition that can cause paralysis. Its association with black tar heroin is a well-established fact. It is essential to alert clinicians in recognizing the patients with history of injection drug abuse presenting with clinical features of botulism early on admission for prompt diagnosis and treatment.
View Article and Find Full Text PDFBackground: Botulism is a rare potentially fatal and treatable disorder caused by a bacteria-produced toxin that affects the presynaptic synaptic membrane resulting in a characteristic neuromuscular dysfunction. It is caused by either the ingestion of the toxin or the bacteria, inhalation, or wound infection. We present our observations with a descriptive case series of wound botulism secondary to black tar heroin (BTH) injection.
View Article and Find Full Text PDFBackground And Purpose: New effective recanalization therapies are currently available for acute ischemic stroke; yet a vast majority of stroke patients are left untreated. The lack of early recognition may be because often times, stroke patients present with atypical manifestations that resemble other conditions (which are referred to as "stroke chameleons"). We set to study the proportion of patients with delayed stroke recognition in a single center.
View Article and Find Full Text PDFAlien hand syndrome [AHS] is a rare and ill-defined neurological disorder. It produces complex, goal-directed motion of one hand that is involuntarily instigated. This syndrome characteristically arises after brain trauma, brain surgery, stroke or encephalitis.
View Article and Find Full Text PDFObjective: To describe the unique phenotype and genetic findings in a 57-year-old female with a rare form of congenital myasthenic syndrome (CMS) associated with longstanding muscle fatigability, and to investigate the underlying pathophysiology.
Methods: We used whole-cell voltage clamping to compare the biophysical parameters of wild-type and Arg1457His-mutant Nav 1.4.
Muscle Nerve
February 2015
Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. In this review we provide an update regarding the most common form of SMA, proximal or 5q-SMA, and discuss the contemporary approach to diagnosis and treatment. Electromyography and muscle biopsy features of denervation were once the basis for diagnosis, but molecular testing for homozygous deletion or mutation of the SMN1 gene allows efficient and specific diagnosis.
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