Diagnostics of Amyotrophic Lateral Sclerosis: Up to Date

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by gradual loss of upper and lower motor neurons and their pathways, usually without affecting the extraocular and sphincter muscles. The cause of the disease is not yet known. It is a chain of subsequent events, ending in programmed cell death in selective neuronal subpopulations. The prognosis for survival is rather short with a median of 2 to 4 years. Survival may be prolonged based on prompt diagnosis, ALS subtype and proper management with supportive treatment (tracheostomy, gastrostomy, etc.). According to the clinical picture, the typical form of ALS with upper and lower motoneuron involvement and progressive bulbar paralysis with bulbar muscle involvement is observed. The ALS form with progressive muscle atrophy, where only the lower motoneuron is affected, and primary lateral sclerosis with only upper motoneuron damage are rare. Familiar forms of ALS (FALS) associated with specific genes (the most common is C9orf72) have been discovered. FALS is usually associated with dementia (frontotemporal lobar dementia, FTLD), behavioral disorders, cognitive dysfunction and impairment of executive functions. The diagnosis of ALS is determined by excluding other conditions and utilizing clinical examinations, laboratory and genetic tests and nerve conduction/needle electromyography studies (EMG). Needle EMG records abnormal activities at rest and looks for neurogenic patterns during muscle contraction. Motor evoked potentials after transcranial magnetic stimulation remain the test of choice to identify impairment of upper motor neurons. New biochemical, neurophysiological and morphological biomarkers are extensively studied as early diagnostic and prognostic factors and have implications for clinical trials, research and drug development.

To the pathological anatomy of bulbar paralysis of vascular origin

Bulbar paralysis has long been attracting the attention of neuropathologists, due to its diversity in the clinical picture, the duration of the course of the disease and the severity of the disease. In Germany, the term bulbar paralysis was first used in 1864 by Wachsmuth in relation to the chronic form, which is now called Duschenns progressive bulbar paralysis. Due to the difficulties of recognition, cases of intravital diagnosis of paralysis with lesions of the medulla oblongata were almost absent at that time. In France, the acquaintance with this disease began, apparently, a little earlier than Germany, but there and here they soon began to distinguish acute cases (Lange) of paralysis from chronic ones.

PARALISIA BULBAR PROGRESSIVA (PBP): relato de caso

Motor neuron disease is a term used in several clinical syndromes, among them Progressive Bulbar Paralysis, a rare degenerative and progressive disease of rapid evolution and loss of early respiratory muscle strength. The characteristics are dysphonia, dysphagia, dysarthria, inability in bronchial hygiene, wheezing breaths and atrophy of the tongue musculature, affecting chewing, the grinding of food is increasingly difficult, affecting chewing, causing a potentially disabling and debilitating disease. This study aimed to describe a clinical case of an individual with a clinical diagnosis of Progressive Bulbar Paralysis in Propaedeutics at the Clinical School of the Faculty of the Alto Paranaíba-MG region. The object of study was a 57-year-old male, who underwent an initial physical therapy evaluation and was collected with maximum physiological pressure: maximum inspiratory pressure, maximum expiratory pressure, Borg CR-10 scale, heart rate (HR), respiratory pressure (RF), systolic blood pressure (SBP), diastolic blood pressure (DBP), peripheral oxygen saturation (SPO2). Then, follow a course of action in accordance with the provisions of the literature on the performance of the disease. The results found in this study are satisfactory, for all eight variables analyzed, with the possibility of highlighting the variable Borg CR-10 as the most satisfactory variable compared.

Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report

Background Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhythmias have a strong impact on the outcomes for these patients and are potentially treatable. Case presentation A girl with severe congenital RYR1-related myopathy exhibited atrial tachycardia and sinus node dysfunction during infancy. She was born after uncomplicated caesarian delivery. She showed no breathing, complete ophthalmoplegia, complete bulbar paralysis, complete facial muscle paralysis, and extreme floppiness. At 5 months old, she developed persistent tachycardia around 200–210 beats per minutes. Holter monitoring revealed ectopic atrial tachycardia during tachyarrhythmia and occasional sinus pauses with junctional escape beats. Propranolol effectively alleviated tachyarrhythmia but was discontinued due to increased frequency and duration of the sinus pauses that led to bradyarrhythmia. There was no evidence of structural heart diseases or heart failure. The arrhythmia gradually resolved spontaneously and at 11 months old, she showed complete sinus rhythm. Conclusions Although supraventricular arrhythmia is sometimes encountered in congenital myopathies, this is the first report of cardiac arrhythmia requiring drug intervention in RYR1-associated myopathy.

Cardiopulmonary failure as a result of brainstem encephalitis caused by enterovirus D68

Enterovirus D68 (EV-D68) causes respiratory illnesses such as pneumonia, and has been reported to cause acute flaccid myelitis. Enterovirus A71 (EV-A71) is known to cause cardiopulmonary failure due to brainstem encephalitis, but there have been few reports of these conditions being associated with EV-D68. Outbreaks of EV-D68 infection have occurred in the USA, Canada, Europe and Asia. Clinical management is largely supportive and there are no specific antivirals available. The case patient, a 4-year-old girl, had cardiopulmonary failure due to brainstem encephalitis. EV-D68 was isolated from a throat swab. On admission, she had cardiopulmonary failure, which required intensive care using a ventilator and inotropic agents. Her cardiac function improved, but she had residual bulbar paralysis and limb weakness, which resolved over a 6-month period. This case confirms that EV-D68, may cause severe illness due to brainstem encephalitis, similar to that caused by EV-A71.

Blow: a case of pufferfish intoxication in South Florida

We report the case of a 43-year-old African American man with a history of hypertension and chronic kidney disease presenting with hypertensive emergency and bulbar paralysis in a descending fashion, which ultimately led to acute respiratory failure. He ingested pufferfish liver during the preceding 4 hours prior to presentation, as well as canned foods and cocaine over the prior 3 days. He had a complicated hospital course requiring intubation and mechanical ventilation, as well as the development of acute respiratory distress syndrome and acute renal failure requiring haemodialysis. This case exemplifies the classic manifestations of tetrodotoxin poisoning with some unique overlapping features, in the setting of an interesting social history.

Doss Porphyria (δ-Aminolevulinic Acid Dehydratase Porphyria) Presenting with Acute Onset Flaccid Paralysis

δ–Aminolevulinic acid dehydratase porphyria is an autosomal recessive disorder of heme synthesis resulting from deficiency of δ-aminolevulinic acid dehydratase (ALAD). Patients present with fatal neurovisceral manifestations and motor neuropathy. Here we report a patient with rapidly progressive flaccid tetraplegia with respiratory and bulbar paralysis. The importance of early diagnosis, prompt treatment and screening of relatives is stressed.J Nepal Paediatr Soc 2015;35(3):280-282