Alternant hemiplegia

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CONTEXT: Spasticity is characterized by increased muscle tone and stretch reflexes, often caused by an upper motor neuron (UMN) syndrome. Many patients live with their dysfunction of their upper or lower limbs for many years and are managed by a multidisciplinary team including physical medicine and rehabilitation specialists, neurologists, and/or physical therapists in an attempt to decrease their spasticity and enhance their quality of life. Reconstructive surgery is a treatment option for many patients living with spasticity...

No abstract text is available yet for this article.

BACKGROUND: Intrathecal baclofen (ITB) therapy, a viable alternative for unsuitable candidates of conventional spasticity medications, is a preferred method of administration over the oral route. Owing to its enhanced bioavailability, ITB ensures a more effective delivery at the target site. OBJECTIVE: There is a lack of conclusive evidence regarding the use of ITB treatment in managing ambulatory patients with spastic dystonia. Before ITB pump implantation, patients commonly undergo an ITB bolus injection trial to rule out potential adverse reactions and verify the therapeutic effects on hypertonic issues...

BACKGROUND: Many alternating hemiplegia of childhood (AHC) patients have received Cannabidiol (CBD) but, to our knowledge, there are no published data available. GOALS: Test the hypothesis that CBD has favorable effects on AHC spells. METHODS: Retrospective review of available data of AHC patients who received CBD. Primary analysis: Clinical Global Impression Scale of Improvement (CGI-I) score for response of AHC spells to CBD with calculation of 95% confidence interval (CI) for rejection of the null hypothesis...

BACKGROUND & OBJECTIVE: Cerebrovascular Accident (CVA) or stroke, Spinal Cord injury can lead to neurological diseases resulting in major loss in motor function causing hemiplegia or tetraplegia. In 2019, according to The Global Burden of Diseases (GBD) CVA/Stroke is the second leading cause of death and the third leading cause of death and disability combined, globally. Its prevalence vary drastically among South Asian countries. The objective of this study was to determine the effectiveness of Functional Electrical Stimulation (FES) machine on neurologically impaired patients at the Physical Therapy department at IHHN, Karachi, Pakistan...

INTRODUCTION: Migraines are common and debilitating, and have high direct and indirect costs. They can be difficult to treat, and many patients make use of alternative medicine techniques. One of these is acupuncture applied to locations on the auricle thought to modulate migraine symptoms. Some patients obtain piercings in these locations in hopes of relieving their symptoms; however, the literature does not address the possibility of migraine symptoms being worsened or even induced by such piercings...

BACKGROUND: With the increasing demand for aesthetic procedures, autologous fat grafting (AFG) seems to be an attractive option for facial volumization and rejuvenation. The aim of this study was to assess the type and severity of associated complications after facial AFG for aesthetic purposes. METHODS: The entire PubMed/Medline and Cochrane databases were screened to identify studies describing complications that occurred after the injection of autologous fat into the face...

BACKGROUND: ATP1A3 is a gene that encodes the ATPase Na + /K + transporting subunit alpha-3 isoenzyme that is widely expressed in GABAergic neurons. It maintains metabolic balance and neurotransmitter movement. These pathways are essential for the proper functioning of the nervous system. A mutation in the ATP1A3 gene demonstrates remarkable genotype-phenotype heterogeneity. OBJECTIVES: To provide insight into patients with ATP1A3 mutation...

Stroke is the main cause of disability in the middle and old age. Hemiplegia, especially lower limb paralysis, often leads to the loss of self-care ability and a series of secondary injuries. The main method to improve hemiplegic limb movement is exercise therapy, but there are still many patients with disabilities after rehabilitation treatment. As one of the non-pharmacological therapies for stroke, acupuncture has been recognized to improve motor function in patients. Here, we propose a new method, anterior sciatic nerve acupuncture, which can stimulate both the femoral nerve and the sciatic nerve...

This review aimed to evaluate whether the association between 'anosognosia for hemiplegia' and lesions of the right hemisphere points to a special self-awareness role of the right side of the brain, or could instead be due to a working mode typical of the right hemisphere. This latter viewpoint is consistent with a recently proposed model of human brain asymmetries that assumes that language lateralization in the left hemisphere might have increased the left hemisphere's level of consciousness and intentionality in comparison with the right hemisphere's less conscious and more automatic functioning...

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopment disorder that is typically characterized by debilitating episodic attacks of hemiplegia, seizures, and intellectual disability. Over 85% of individuals with AHC have a de novo missense variant in ATP1A3 encoding the catalytic α3 subunit of neuronal Na+/ K+ ATPases. The remainder of the patients are genetically unexplained. Here, we used next-generation sequencing to search for the genetic cause of 26 ATP1A3-negative index patients with a clinical presentation of AHC or an AHC-like phenotype...

BACKGROUND: Non-sleep related apnea (NSA) has been observed in alternating hemiplegia of childhood (AHC) but has yet to be characterized. GOALS: Investigate the following hypotheses: 1) AHC patients manifest NSA that is often severe. 2) NSA is usually triggered by precipitating events. 3) NSA is more likely in patients with ATP1A3 mutations. METHODS: Retrospective review of 51 consecutive AHC patients (ages 2-45 years) enrolled in our AHC registry...

BACKGROUND: Spastic hemiplegia following ischemic strokes seriously impedes the recovery of motor function posing a vast rehabilitation challenge. As the uncertain effects of recommended conventional treatments such as botulinum toxin injections on active functional improvement and potential adverse effects cannot be bypassed, there is an increasing need in alternative, more effective and safer modalities. Acupoints-based transcutaneous electrical nerve stimulation (Acu-TENS) and transcranial direct current stimulation (tDCS) are effective non-invasive modalities for stroke rehabilitation, particularly showing anti-spastic effect and functional improvements as well...

OBJECTIVE: To investigate the effects of task-oriented biomechanical sensors-balance training on lower limb motor function and gait balance function in stroke patients with hemiplegia. METHODS: Researchers divided 106 stroke patients with hemiplegia into observation and control groups. All received essential rehabilitation training treatment. The observation group's rehabilitation consisted of task-oriented biomechanical sensors-balance training. The modified Ashworth Scale score, FuGL-Meyer Motor Function Scale score, and other indicators measured the results of the two groups...

Alternating hemiplegia of childhood (AHC) is characterized by recurrent episodes of hemiplegia which may alternate sides between attacks. The condition is associated with severe neurodevelopmental disorder presenting in early infancy, and may encompass a wide range of other paroxysmal manifestations (e.g., dystonia, nystagmus, dysautonomia) and pervasive neurological disabilities (e.g., developmental delay, learning disabilities, choreoathetosis, and ataxia). Epileptic seizures are particularly common among patients with AHC...

BACKGROUND: We present the case of an individual with acute occlusion of the middle cerebral artery caused by atherosclerosis. The patient underwent angioplasty using a coronary perfusion balloon, which resulted in a favorable clinical outcome. CASE DESCRIPTION: A 66-year-old male patient presented with an acute onset of right hemiplegia and dysarthria. Magnetic resonance imaging revealed an occlusion of the left middle cerebral artery, and alteplase was administered, followed by a mechanical thrombectomy and intracranial balloon catheter angioplasty...

ATP1A2 encodes a subunit of sodium/potassium-transporting adenosine triphosphatase (Na+ /K+ -ATPase). Heterozygous pathogenic variants of ATP1A2 cause familial hemiplegic migraine, alternating hemiplegia of childhood, and developmental and epileptic encephalopathy. Biallelic loss-of-function variants in ATP1A2 lead to fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, resulting in fetal death. Here, we describe a patient with compound heterozygous ATP1A2 variants consisting of missense and nonsense variants...

Here, we describe the process of development of the methodology for an international multicenter natural history study of alternating hemiplegia of childhood as a prototype disease for rare neurodevelopmental disorders. We describe a systematic multistep approach in which we first identified the relevant questions about alternating hemiplegia of childhood natural history and expected challenges. Then, based on our experience with alternating hemiplegia of childhood and on pragmatic literature searches, we identified solutions to determine appropriate methods to address these questions...

BACKGROUND: Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7-year-old boy with hypotonia, global developmental delay, strabismus, seizures, and previously suspected mitochondrial myopathy. This proband comes from an underrepresented minority and was denied exome sequencing by his public insurance. METHODS: After informed consent was obtained, buccal cells from the proband were collected and whole exome sequencing was performed...