Fasciculation intensity and limb dominance in amyotrophic lateral sclerosis: a muscle ultrasonographic study.

BACKGROUND AND PURPOSE: Muscle ultrasonography has been increasingly recognized as a useful tool for detection of fasciculations. Separately, concordance between dominant hand and onset side has been reported in amyotrophic lateral sclerosis (ALS). The aim of this study was to reveal the distribution of fasciculations in the whole body, focusing on handedness. METHODS: In 106 consecutive patients with ALS, muscle ultrasonography was systematically performed in 11 muscles (the tongue, and bilateral biceps brachii, 1st dorsal interosseous [FDI], T10-paraspinalis, vastus lateralis and tibialis anterior muscles). The fasciculation intensity was scored from 0 to 3 for each muscle. RESULTS: Fasciculations were more frequently found in the limb muscles than the tongue and paraspinalis. Side and handedness analyses revealed that fasciculation intensity in FDI was significantly more prominent on the right (median [inter-quartile range] 2 [0 - 3]) than left (1.5 [0 - 3]; p = 0.016), and in the dominant hand (2 [1 - 3]) than non-dominant side (1.5 [0 - 3]; p = 0.025). The differences were greater in patients with upper limb onset. There were no side differences in the lower limb muscles. Multivariate analyses showed that male patients had more frequent fasciculations in the dominant FDI (ß = 0.22, p < 0.05). CONCLUSION: More intensive fasciculations are present in the FDI in the dominant hand and gender might be associated with fasciculation intensities. This distribution pattern of fasciculations might be associated with pathogenesis of ALS.

The Association Between Benign Fasciculations and Health Anxiety: A Report of Two Cases and a Systematic Review of the Literature.

BACKGROUND: Benign fasciculation syndrome (BFS) is characterized by persistent spontaneous contractions of muscle fibers in the absence of a pathological cause. Patients with BFS often have concerns around having motor neuron disease, in some cases fulfilling the criteria for health anxiety disorder. Research on how BFS and health anxiety relate to one another and how they should be optimally managed together is sparse. OBJECTIVE: We report two cases of BFS associated with health anxiety. We also review the literature on the association between BFS and health anxiety. METHODS: We systematically reviewed the literature using MEDLINE, Embase, PsycINFO, and OpenGrey for studies investigating benign fasciculations and anxiety up to August 2018. RESULTS: Both cases were successfully treated for health anxiety disorder with cognitive-behavioral therapy (CBT) and antidepressant medication. We identified eight studies that met the inclusion criteria, describing a total of 384 patients. Most studies were of moderate quality. Patients with BFS tended to be male and in their 30s or 40s. There was an overrepresentation of clinicians. Anxiety symptoms were common and frequently coexisted alongside fasciculations. Health anxiety was overwhelmingly focused around motor neuron disease. CONCLUSION: A proportion of individuals with BFS experience anxiety around having motor neuron disease-to the point of developing health anxiety disorder. A bidirectional relationship may exist between BFS and health anxiety disorder. Clinicians should be alert to the possibility of health anxiety disorder in patients with BFS and have a low threshold to refer for psychiatric assessment. There is support for the role of psychological therapy, especially CBT, as well as pharmacotherapy, in the form of antidepressant medication. In severe or treatment-refractive cases, combined treatment may be indicated.

Detection radius of EMG for fasciculations: Empiric study combining ultrasonography and electromyography.

OBJECTIVE: The aims of this study were to investigate the detection radius and sensitivity of EMG for fasciculations. METHODS: Muscle ultrasonography was performed simultaneously to EMG recordings in patients with fasciculations in the context of amyotrophic lateral sclerosis. Ultrasonography and EMG parameters were analyzed for selected fasciculations. RESULTS: A total of 381 fasciculations were detected by ultrasonography in 18 muscles of 10 patients. Out of these, 125 (33%) were EMG-negative. In contrast, none of the fasciculations detected by EMG were ultrasonography-negative. EMG detection probability decreased significantly with increasing distance from the center of the fasciculation. EMG detection rate was 98% when the EMG needle was located within the fasciculation and 50% at 7.75 mm distance from the fasciculation center. In addition, EMG detection depended significantly on cross-sectional area of the fasciculation and presence of neurogenic changes. CONCLUSIONS: For detecting the same fasciculations, EMG is less sensitive than ultrasonography. EMG detection probability decreases sharply at a distance comparable to motor unit size. SIGNIFICANCE: These results extend previous knowledge about superior sensitivity of ultrasonography for fasciculations. Moreover, our novel bimodal detection method provides first in vivo data about the EMG detection radius for fasciculations in a clinical setting.

Benign fasciculation syndrome.

Questions from patients about pain conditions, analgesic pharmacotherapy, and responses from authors are presented to help educate patients and make them more effective self-advocates. In reply to a question about benign fasciculation syndrome, the presentation, causes, treatment, and chances of developing amyotrophic lateral sclerosis will be discussed.

Transitory stapedial myoclonus in a patient with benign fasciculation syndrome.

OBJECTIVE: We report a previously undescribed association between transitory stapedial myoclonus, objective tinnitus and benign fasciculation syndrome. METHOD: Case report and review of the world literature regarding stapedial myoclonus. RESULTS: A 30-year-old man with a diagnosis of benign fasciculation syndrome abruptly developed severe, low-pitched tinnitus on the right side. Otoscopic examination revealed rhythmic movement of the tympanic membrane, which was synchronous with the tinnitus. No palatal spasm was noted on nasopharyngeal examination. Brain magnetic resonance imaging and pure tone audiometry were unremarkable. Based on these findings, a diagnosis of objective tinnitus due to stapedial myoclonus was made. The objective tinnitus spontaneously disappeared within 48 hours of its appearance, but in the following days the patient suffered frequent, brief episodes of objective tinnitus lasting only a few seconds. CONCLUSION: The occurrence of stapedial myoclonus in this patient indicated the presence of an underlying motor unit hyper-excitability. This case suggests that, in some patients, stapedial myoclonus may represent the clinical expression of diffuse motor unit hyper-excitability.

Patrikios syndrome in two patients with treatable flail-leg weakness.

Flail-leg syndrome or lower limb diplegia is a form of motor neuron disease characterized by a slower progression rate. The differential diagnosis with motor neuropathy is important. We present two patients with a previous diagnosis of amyotrophic lateral sclerosis (ALS)-flail-leg syndrome, in whom neurophysiological studies suggested proximal conduction block. Both patients responded to immunomodulatory therapy, which suggested an immunologically mediated, treatable flail-leg syndrome phenotype. We stress the importance of fasciculations in the diagnosis of ALS, and the study of nerve root conduction in the differential diagnosis.

Case report: acute urinary retention secondary to Isaacs' syndrome.

We report an unusual case of acute urinary retention secondary to Isaacs' syndrome due to external urethral sphincter spasm. The patient was able to resume spontaneous voiding after the treatment of the underlying disease. At 6-month follow-up, there were no voiding complaints.

Continuous muscle fibre activity: a case treated with acetazolamide.

A case is reported of the continuous muscle fibre activity syndrome, which includes a group of disorders characterised by sustained motor unit activity due to hyperactivity of peripheral nerve motor axons. In this patient the muscle stiffness and myokymic movements were successfully treated with acetazolamide, which acts as a membrane stabiliser either by blockade of chloride and bicarbonate membrane transport or by producing kaliuresis and raising the transmembrane potential by decreasing extracellular potassium.

A case of Isaacs' syndrome with associated central nervous system findings.

We report a 44-year-old female with Isaacs' syndrome, peripheral motor neuropathy, and features of central pontine myelinolysis (CPM). The patient presented with stiffness and muscle spasms accompanied by profound sweating. She also had bilateral Babinski signs. Electrodiagnostic abnormalities were characteristic of Isaacs' syndrome. Magnetic resonance imaging demonstrated features of CPM. She gained modest relief from baclofen, valproate, and diazepam. She improved dramatically following plasmapheresis and continued to recover on prednisone. She was weaned from steroids without relapse.

Propofol anesthesia in a patient with Isaacs syndrome--report of a case and literature review.

Isaacs syndrome is an unusual lower motor neuron disease characterized by myokymia (muscle twitching), muscular stiffness, and decreased tendon reflexes. We reported a patient who was affected with this rare disease, with manifestation of involuntary muscular contractions and required general anesthesia for bilateral tonsillectomies. Understanding the presentation and characterization of this unusual disease may be helpful in making choice of anesthetics or anesthetic techniques. Its possible mechanisms of action and its specific considerations in anesthesia in the literature are reviewed and discussed.

[Familial periodic ataxia with myokymia sensitive to acetazolamide: a family case]. / Ataxia periódica familiar con mioquimia sensible a acetazolamida: presentación de una familia.

INTRODUCTION: Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia is a type of autosomal dominant cerebellar ataxia which locus was found to be linked to the short arm of chromosome 12 and the etiology is unknown. CLINICAL CASE: A 12 years-old man who suffered from childhood daily episodes of sudden attacks sport induced with giddiness, ataxia and dysarthria for minutes. The familial history shows the same clinical findings in three generations. Intercritical general neurologic evaluation is otherwise normal. The following tests were performed with normal results: Biochemistry, electroencephalogram, cerebral magnetic resonance imaging. The electromyography showed myokymic discharges. The patient's symptoms improve on treatment with acetazolamide immediately. CONCLUSIONS: Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia needs to think on it to be diagnosed. No typical complementary test (electromyography exception) induces to base diagnosis in the clinical findings, the familial history and the fast clinical improvement after starting treatment with acetazolamide.

Familial bulbospinal neuronopathy with optic atrophy: a distinct entity.

A 61 year old woman and her 58 year old brother presented with the clinical picture of late onset progressive bulbar and spinal muscular atrophy with family history of involvement in successive generations. The sister also had optic neuropathy and the brother developed diabetes mellitus and sex hormone abnormalities. Neurophysiological and histopathological studies showed a pattern of motor and sensory neuronopathy. There was no abnormal expansion of CAG repeats in the androgen receptor gene. This family seems to have a previously unrecognised entity with the bulbospinal neuronopathy phenotype.