Abstract:
:Congenital myasthenic syndromes (CMSs) are a heterogeneous group of disorders, characterized by dysfunction of neuromuscular junction (NMJ) transmission. These syndromes are genetically inherited and are present since birth. Some have characteristic clinical or electrodiagnostic features but in many cases determination of the specific form requires genetic studies or specialized morphological and electrophysiological studies on muscle tissue. We report a case of a 4-year-old boy with progressive ptosis and limitation of ocular movements who was diagnosed as slow-channel CMS based on the characteristic electrodiagnostic features. Repetitive compound muscle action potentials (R-CMAPs) were recorded after single nerve stimulus, with decremental response after repetitive trains performed at 3 Hz. CMSs are at times clinically difficult to distinguish from acquired myasthenia. The characteristic clinical and electrodiagnostic features help in the diagnosis and enable rational therapy. In this article we discuss the characteristics of synaptic R-CMAPs.
journal_name
Ann Indian Acad Neuroljournal_title
Annals of Indian Academy of Neurologyauthors
Kumar RS,Kuruvilla Adoi
10.4103/0972-2327.64645subject
Has Abstractpub_date
2010-04-01 00:00:00pages
139-41issue
2eissn
0972-2327issn
1998-3549journal_volume
13pub_type
abstract:OBJECTIVE:There is paucity of reports on thyrotoxic periodic paralysis (TPP) from India. We report the patients with TPP and compare them with idiopathic hypokalemic periodic paralysis (IHPP). MATERIALS AND METHODS:Patients with hypokalemic periodic paralysis (HPP) treated during the past 11 years were evaluated retro...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.99708
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND:Guillain-Barré syndrome (GBS) is an acute inflammatory polyneuropathy commonly characterized by rapidly progressive, symmetric weakness and areflexia. MATERIALS AND METHODS:We retrospectively assessed the clinical manifestations, results of electrodiagnostic tests, functional status and prognosis of 36 chil...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.82793
更新日期:2011-04-01 00:00:00
abstract::We report a case of rabies viral encephalitis in a 48-year-old male with an unusually long incubation period, historically suspected to be more than 20 years. The case was referred for histological diagnosis following alleged medical negligence to the forensic department. The histology and immunocytochemical demonstra...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.99728
更新日期:2012-07-01 00:00:00
abstract:Background:Stroke results in significant caregiver burden and strain. Objective:The main objectives of this study is to assess the burden and its consequences in caregivers of stroke patients and to determine the associated factors to caregivers' burden. Methods:A cross-sectional study was conducted over 1 year on 70...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_406_18
更新日期:2020-01-01 00:00:00
abstract:Background:There are few community-based neuroepidemiological studies based in tribal communities. This cross-sectional community-based study explored the prevalence rates of neurological disorders in the tribal region of Kaparada in Gujarat. Methodology:A two-stage methodology was used. Door-to-door surveys were cond...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_284_18
更新日期:2018-10-01 00:00:00
abstract::The nosology, classification and pathophysiology of ophthalmoplegic migraine (OM) remains complex and debatable. A recently proposed classification of OM leaves several caveats. A critical analysis of all reported cases of OM (1993-2010) has been made incorporating the authors' own experience to arrive at a simple, un...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.99985
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to investigate Iintra-rater reliability of the Modified Tardieu Scale (MTS) in elbow flexors and ankle plantar flexors in adult subjects with stroke. MATERIALS AND METHODS:A total of 91 subjects with stroke participated in this test-retest study. Intra-rater reliability of the ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.78045
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Migraine is a chronic and disabling disorder. Treatment of migraine often comprises of symptomatic (abortive) and preventive (prophylactic) treatment. The current drugs used in migraine prophylaxis include antidepressant drugs (Serotonin Reuptake Inhibitors, Tricyclic antidepressants), and anti-epileptic dru...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.144290
更新日期:2015-01-01 00:00:00
abstract:Background:Neuromyelitis optica (NMO) is an inflammatory demyelinating disease that selectively affects the optic nerves and spinal cord and generally follows a relapsing course. Therapeutic plasma exchange (TPE) appears to be effective in patients with central nervous system inflammatory demyelinating disease who do n...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_330_17
更新日期:2018-04-01 00:00:00
abstract::We describe a young patient of acute transverse myelitis (ATM) who developed true lower motor neuron (LMN) type flaccid paraplegia as a result of anterior horn cell damage in the region of cord inflammation that extended from conus upwards up to the D4 transverse level. We infer that flaccidity in acute phase of ATM i...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.138525
更新日期:2014-07-01 00:00:00
abstract::Stroke in young poses a major health problem. Thrombophilic factors have been implicated in 4-8% of the young strokes worldwide. Protein S deficiency is a rare cause of recurrent ischemic stroke in young population. Only a few sporadic cases have been described in the literature. We are reporting a case of protein S d...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.56319
更新日期:2009-07-01 00:00:00
abstract:Background and Aims:Intracranial atherosclerotic disease (ICAD) is common in the Asian population, but less studied in South Asians compared to East Asians. We compared risk factors, treatments, and outcomes among consecutive patients with symptomatic ICAD from India with a mixed-ethnic cohort from Chicago, Illinois. ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_549_19
更新日期:2020-05-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Glutaric aciduria Type-I (GA-I) has characteristic clinical and neuroimaging features, which clinches the diagnosis in a majority of patients. However, there have been few case reports on GA-I from India. This study was undertaken to study the clinical presentations, metabolic profile, neuroim...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.93273
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis. Mutation screening is the gold standard for diagnosis but is difficult as the gene is large and multiple mutations are known. This study evaluates the util...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.175435
更新日期:2016-01-01 00:00:00
abstract::Stent retrieval system is an established treatment modality in acute ischemic stroke with large vessel occlusion. Here, we describe a complication which occurred during mechanical thrombectomy in three cases where the clot dislodged during retrieval. There was a possibility of the clot getting reinjected into the arte...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.176866
更新日期:2016-04-01 00:00:00
abstract::A 67-year-old male smoker had exertional headaches for 2 years. The headaches were holocephalic, very severe, excruciating, and occasionally accompanied by nausea. Physical examinations and neuroimaging were normal. Electrocardiogram (ECG) showed old infarct in inferior leads. Sublingual nitrate provided relief in hea...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.165467
更新日期:2016-04-01 00:00:00
abstract::The medical profession is considered to be one of the noblest professions in the world. The practice of medicine is capable of rendering noble service to humanity provided due care, sincerity, efficiency, and professional skill is observed by the doctors. However, today, the patient-doctor relationship has almost dimi...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章,评审
doi:10.4103/0972-2327.192886
更新日期:2016-10-01 00:00:00
abstract::Stroke is a major health problem world-wide and its burden has been rising in last few decades. Until now tissue plasminogen activator is only approved treatment for stroke. Angiogenesis plays a vital role for striatal neurogenesis after stroke. Administration of various growth factors in an early post ischemic phase,...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章,评审
doi:10.4103/0972-2327.128519
更新日期:2014-01-01 00:00:00
abstract::Headache is the most common symptom of cerebral venous thrombosis (CVT); however, the detailed underlying mechanisms and characteristics of headache in CVT have not been well described. Here, we report two cases of CVT whose primary and lasting presentation was orthostatic headache, suggestive of decreased intracrania...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.107705
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVES:Cross sectional studies have reported a tremendous amount of stress in caregivers of patients with Alzheimer's disease (AD) and Mild Cognitive Impairment (MCI). The present study aimed at evaluating the perceived stress in caregivers of patients with AD and MCI compared to controls. MATERIALS AND METHODS:Ca...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.167695
更新日期:2016-01-01 00:00:00
abstract::One of the first steps toward the correct diagnosis of dementia is to segregate out the nondegenerative dementias from possible degenerative dementias. Nondegenerative dementias could be due to traumatic, endocrine, metabolic, nutritional, toxic, infective, and immunological causes. They could also be caused by tumors...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.74247
更新日期:2010-12-01 00:00:00
abstract::Leigh syndrome (LS) is a heterogeneous familial or sporadic neurodegenerative disorder. It is typically seen in infancy or childhood, although rare cases of adult onset have been described. The authors describe a 37-year-old woman who presented with protracted gastrointestinal symptoms followed by acute brain stem syn...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.175437
更新日期:2016-01-01 00:00:00
abstract::The global workspace of consciousness was proposed in its elementary framework by Baars, in 1982. Since the time of inception, there have been many speculations and modifications of this theory, but the central theme has remained the same, which refers to the global availability of information in the brain. However, t...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.42933
更新日期:2008-07-01 00:00:00
abstract::Limbic encephalitis (LE) is a neurological syndrome that may present in association with cancer, infection, or as an isolate clinical condition often accompanying autoimmune disorders. LE associated with glutamic acid decarboxylase antibodies (anti-GAD) is rare in children. Here, we characterized the clinical and labo...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.150628
更新日期:2015-04-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to assess the effect of sodium valproic acid (SVA) on the sleep quality of patients with juvenile myoclonic epilepsy (JME). MATERIALS AND METHODS:Standardized sleep questionnaires viz. Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to 30 ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.165472
更新日期:2015-10-01 00:00:00
abstract::Movement disorders in childhood comprise a heterogeneous group of conditions that lead to impairment of voluntary movement, abnormal postures, or inserted involuntary movements. Movement disorders in children are frequently caused by metabolic disorders, both inherited and acquired. Many of these respond to vitamin su...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_678_19
更新日期:2020-05-01 00:00:00
abstract:BACKGROUND:The sural sensory nerve action potential (SNAP) is an important electrodiagnostic study for suspected peripheral neuropathies. Incorrect technique and unavailability of reference data can lead to erroneous conclusions. OBJECTIVES:To establish reference data for sural SNAP in age-stratified healthy subjects ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.186786
更新日期:2016-07-01 00:00:00
abstract:Introduction:In Guillain Barre syndrome (GBS), worsening of weakness or disability after initial period of recovery or stabilization is described as treatment-related fluctuations (TRF). Aim:This study aims to describe the clinical characteristics and outcome of six patients with GBS and TRF. Patients and Methods:Six...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_242_17
更新日期:2017-10-01 00:00:00
abstract:Background:Stroke is among the major causes of short- and long-term disability. This study aimed to understand the caregivers (CGs) stress in stroke survivors. Materials and Methods:A 22-item questionnaire was administered to 201 CGs of stroke survivors. The variables tested were physical and mental health, social sup...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_203_17
更新日期:2017-10-01 00:00:00
abstract::Three cases with manifestations of right heart failure, shock, metabolic acidosis, and renal failure in varying combination were admitted with paraparesis. Nerve conduction study suggested predominantly motor and mainly axonal type of neuropathy. Rapid reversal of shock, acidosis, and multi-organ dysfunction with time...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.120467
更新日期:2013-10-01 00:00:00