Phenotypic variability in congenital myasthenic syndrome with GFPT1 mutation.

Background: Congenital myasthenic syndrome (CMS) is phenotypically and genetically different from myasthenia gravis. CMS can present in adolescents and can be treatable. Genetic testing is helpful in diagnosis, and guides therapy, alleviating the need of muscle biopsy.

Similarities and Differences in Functional Movement Disorders and Functional Seizures at a Tertiary Care Center: A Prospective Study.

Background: Functional movement disorders (FMDs) and functional seizure (FS) are the two most important subcategories of functional neurologic disorders (FNDs).

Objectives: This study aimed to discern similarities and differences between patients with FMD and FS.

Methods: A prospective comparative study of 94 patients with FNDs (FMD = 47, FS = 47) was conducted.

Clinical Profile and Quality of Life in Myasthenia Gravis Using MGQOL15 R(Hindi): An Indian Perspective.

Background: Myasthenia Gravis (MG) is a chronic fluctuating illness, due to the dysfunction of neuromuscular junction which is autoimmune in nature. The disease severely affects the Quality Of Life (QOL).

Objective: The primary objective of our study was to assess the QOL in patients with MG using Short Form 36 (SF 36) and MGQOL 15 R (Hindi translated).

Impact of JME on quality of life: Does a well-controlled epilepsy also hamper the psychological wellbeing?

Purpose: Epilepsy is a stigmatizing disorder and its diagnosis can have important psychosocial consequences on individuals, severely impacting their quality of life(QOL). There are numerous studies which have seen an adverse impact on the psychosocial aspects of life in patients with intractable epilepsy. The aim of this study was to assess the QOL in adult and adolescent patients with JME, which is largely a well-controlled form of epilepsy.

Movement Disorder in Demyelinating Disease: Tracing the Charcot's Foot Print.

Movement disorders may be one of the neurological manifestations of demyelinating disorders. They can manifest in Parkinsonism or a wide spectrum of hyperkinetic movement disorders including tremor, paroxysmal dyskinesia, dystonia, chorea, and ballism. Some of these disorders occur during an acute episode of demyelination, whereas others can develop later or even may precede the onset of the demyelinating disorders.

Comparative Analysis of Heller Myotomy With Dor Versus Toupet Fundoplication for Achalasia Cardia.

Background Heller myotomy (HM) with partial fundoplication is the standard of care for achalasia cardia. However, the choice of partial fundoplication is controversial. In this study, we compared both types of fundoplication concerning subjective and objective parameters.

Clinical Features, Neuroimaging, and Levodopa-Responsiveness in Holmes' Tremor: A Video-Based Case-Series with a Review of the Literature.

Background: Holmes' tremor (HT) is a low-frequency tremor characterized by a combination of rest, posture, and action components. We are reporting the clinical features, neuroimaging findings, and levodopa responsiveness in 12 patients with HT.

Cases: The majority of the patients were male (11/12).

Functional Neurological Disorders: Clinical Spectrum, Diagnosis, and Treatment.

Background: Functional neurological disorders (FNDs) are common but often misdiagnosed.

Review Summary: The incidence of FNDs is between 4 and 12 per 100,000, comparable to multiple sclerosis and amyotrophic lateral sclerosis, and it is the second most common diagnosis in neurology clinics. Some clues in the history are sudden onset, intermittent time course, variability of manifestation over time, childhood trauma, and history of other somatic symptoms.

Is essential tremor a family of diseases or a syndrome? A syndrome.

In a consensus statement, a task force of the "International Parkinson and Movement Disorder Society" (IPMDS) has recently proposed a two axes classification for tremor: axis I (clinical manifestations) and axis II (etiology). In the axis, I, the clinical features of tremor in a given patient are specified in terms of medical history, tremor characteristics, associated signs, and laboratory tests for some tremors leading to the discovery of axis 2 etiologies. Based on axis I sign and symptoms a specific clinical syndrome is diagnosed which have been categorized as isolated tremor syndrome (a syndrome consisting only of tremor) and combined tremor syndrome (consisting of tremor and other systemic or neurological signs).

Botulinum toxin for the treatment of tremor.

Tremor is one of the common movement disorders worldwide. In the recent classification tremor has been classified into two axes (I and II). Based on axis I feature tremor can be classified as isolated and combined tremor syndrome.

Movement Disorders and Musculoskeletal System: A Reciprocal Relationship.

The association of movement disorders (MDs) with musculoskeletal (MSK) disorders is observed in two principal scenarios. First, MDs patients may present with MSK issues. This phenomenon is primarily observed in parkinsonian syndromes, but may also be seen in patients with dystonia, Tourette syndrome, and some gene-related MDs.

Primary Writing Tremor: Current Concepts.

Primary Writing Tremor (PWT) is a type of task specific tremor which happens only while writing (Type A PWT) or assuming a writing position of the hand (Type B PWT). There is a considerable overlap of clinical features between PWT and writer's cramp which creates difficulty in diagnosing this condition in the clinic. PWT usually affects the dominant hand and is typically 5-7hz in frequency, worsened by anxiety, temporarily relieved by alcohol and associated with reduced writing speeds.

Tremor in Primary Monogenic Dystonia.

Purpose Of Review: Tremor is an important phenotypic feature of dystonia with wide variability in the reported prevalence ranging from 14 to 86.67%. This variability may be due to the types of dystonia patients reported in different studies.

Treatment of focal hand dystonia: current status.

Background: Focal hand dystonia (FHD) is usually adult-onset focal dystonia that can be associated with marked occupational and functional disability leading to reduced quality of life.

Methods: Relevant studies on treatment options for FHD, their limitations, and current recommendations were reviewed using the PubMed search until March 31, 2021. Besides, the reference lists of the retrieved publications were manually searched to explore other relevant studies.

Post-stroke Movement Disorders: Clinical Spectrum, Pathogenesis, and Management.

Involuntary movements develop after 1-4% of strokes and they have been reported in patients with ischemic and hemorrhagic strokes affecting the basal ganglia, thalamus, and/or their connections. Hemichorea-hemiballism is the most common movement disorder following a stroke in adults while dystonia is most common in children. Tremor, myoclonus, asterixis, stereotypies, and vascular parkinsonism are other movement disorders seen following stroke.

Autoimmune Movement Disorders: A Video-Based Case Series of 11 Patients.

Autoimmune encephalitis (AIE) constitutes an important treatable cause of movement disorders. We aimed to highlight the spectrum of movement disorder and other salient features of AIE patients diagnosed at our tertiary care centre and describe their clinical symptoms, diagnostic approach, treatment, and outcome. We evaluated 11 patients who presented with movement disorder in association with AIE at our centre.