Approach to exaggerated startle reflex: a case of hyperekplexia minor.

A broad set of conditions may present with an exaggerated startle reflex in clinics. This, combined with the overall rarity of these disorders, may pose diagnostic uncertainty in the mind of the treating physician. Herein, we report a case of a patient who presented to us with the complaint of exaggerated startle reflex and outline a simple approach towards characterisation of these disorders.

Deep brain stimulation for Parkinson's disease in Pakistan: Current status, opportunities and challenges.

Parkinson's disease is a slowly progressive neurodegenerative disease that commonly affects people aged 60 years and above. So far, no treatment has been shown to halt or slow the progression of the disease and our options are limited to symptomatic management. Levodopa is the most preferred antiparkinsonian medication that provides excellent control of symptoms early in the disease. However, in most patients the response declines over time and complications of motor fluctuations and dyskinesia arise. Other medical therapies play an adjunctive role in the management, as they are not as effective as levodopa. Advanced therapies like deep brain stimulation (DBS) can provide effective control of symptoms in moderate to advanced disease. Deep brain stimulation surgery has recently been started in Pakistan. This review provides an overview of deep brain stimulation, its indications, patient selection process and details of surgery, expected benefits and limitations as well as its history and challenges in Pakistan.

Recognizing Movement Disorder Emergencies - A Practical Review For Non-Neurologist.

Neurology still remains one of the most underserved specialties of medicine in Pakistan with roughly one neurologist per million people. Movement disorders (MD) are neurological problems that interfere with patient's motor abilities and diagnosis is typically clinical. In this review, we describe a practical approach to common MD emergencies that may be encountered by a non-neurologist physician, emphasizing on formulating a working diagnosis and their immediate management. Movement disorder emergencies can be classified based on MD phenomenology and we will provide a brief overview of dystonia including acute dystonic reaction, PAID syndrome and dystonic storm; chorea, myoclonus including serotonin syndrome and startle disease; and rigidity including neuroleptic malignant syndrome and malignant hyperthermia.

Pathogenesis of Primary Orthostatic Tremor: Current Concepts and Controversies.

Background: Orthostatic tremor (OT), a rare and complex movement disorder, is characterized by rapid tremor of both legs and the trunk while standing. These disappear while the patient is either lying down or walking. OT may be idiopathic/primary or it may coexist with several neurological conditions (secondary OT/OT plus). Primary OT remains an enigmatic movement disorder and its pathogenesis and neural correlates are not fully understood. Methods: A PubMed search was conducted in July 2017 to identify articles for this review. Results: Structural and functional neuroimaging studies of OT suggest possible alterations in the cerebello-thalamo-cortical network. As with essential tremor, the presence of a central oscillator has been postulated for OT; however, the location of the oscillator within the tremor network remains elusive. Studies have speculated a possible dopaminergic deficit in the pathogenesis of primary OT; however, the evidence in favor of this concept is not particularly robust. There is also limited evidence favoring the concept that primary OT is a neurodegenerative disorder, as a magnetic resonance spectroscopic imaging study revealed significant reduction in cerebral and cerebellar N-acetyl aspartate (NAA) levels, a marker of neuronal compromise or loss. Discussion: Based on the above, it is clear that the pathogenesis of primary OT still remains unclear. However, the available evidence most strongly favors the existence of a central oscillatory network, and involvement of the cerebellum and its connections.