Neuromuscular disorders

Author(s):  
Tim Theologis

♦ Neurological disorders can be sensory, motor, or a combination of the two♦ Motor disorders may be flaccid or spastic, static or progressive♦ Splints may improve function but are not proven to prevent contractures♦ Botulinum toxin and tenotomy can be used to manage spasticity♦ Osteotomies may be needed to manage rotatory abnormalities♦ Sensory nerve abnormalities may cause Charcot joints.

Toxins ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 42
Author(s):  
Charenya Anandan ◽  
Joseph Jankovic

Since its initial approval in 1989 by the US Food and Drug Administration for the treatment of blepharospasm and other facial spasms, botulinum toxin (BoNT) has evolved into a therapeutic modality for a variety of neurological and non-neurological disorders. With respect to neurologic movement disorders, BoNT has been reported to be effective for the treatment of dystonia, bruxism, tremors, tics, myoclonus, restless legs syndrome, tardive dyskinesia, and a variety of symptoms associated with Parkinson’s disease. More recently, research with BoNT has expanded beyond its use as a powerful muscle relaxant and a peripherally active drug to its potential central nervous system applications in the treatment of neurodegenerative disorders. Although BoNT is the most potent biologic toxin, when it is administered by knowledgeable and experienced clinicians, it is one of the safest therapeutic agents in clinical use. The primary aim of this article is to provide an update on recent advances in BoNT research with a focus on novel applications in the treatment of movement disorders. This comprehensive review of the literature provides a critical review of evidence-based clinical trials and highlights recent innovative pilot studies.


2021 ◽  
pp. jmedgenet-2020-107369
Author(s):  
Quentin Thomas ◽  
Antonio Vitobello ◽  
Frederic Tran Mau-Them ◽  
Yannis Duffourd ◽  
Agnès Fromont ◽  
...  

ObjectiveTo assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.MethodsSixty-seven probands with various progressive neurological disorders (cerebellar ataxias, neuromuscular disorders, spastic paraplegias, movement disorders and individuals with complex phenotypes labelled ‘other’) were recruited over a 4-year period regardless of their age, gender, familial history and clinical framework. Individuals could have had prior genetic tests as long as it was not cES. cES was performed in a proband-only (60/67) or trio (7/67) strategy depending on available samples and was analysed with an in-house pipeline including software for CNV and mitochondrial-DNA variant detection.ResultsIn 29/67 individuals, cES identified clearly pathogenic variants leading to a 43% positive yield. When performed as a first-tier test, cES identified pathogenic variants for 53% of individuals (10/19). Difficult cases were solved including double diagnoses within a kindred or identification of a neurodegeneration with brain iron accumulation in a patient with encephalopathy of suspected mitochondrial origin.ConclusionThis study shows that cES is a powerful tool for the daily practice of neurogenetics offering an efficient (43%) and appropriate approach for clinically and genetically complex and heterogeneous disorders.


1994 ◽  
Vol 710 (1 Toxins and Ex) ◽  
pp. 76-87 ◽  
Author(s):  
MIRO DENIŠLIČ ◽  
ZVEZDAN PIRTOŠEK ◽  
DAVID B. VODUŠEK ◽  
JANEZ ZIDAR ◽  
DUŠKA MEH

2016 ◽  
Vol 49 (2) ◽  
pp. 131-132 ◽  
Author(s):  
Marcia Wang Matsuoka ◽  
Sílvia Maria Sucena da Rocha ◽  
Lisa Suzuki ◽  
João Paulo Barnewitz ◽  
Rui Imamura ◽  
...  

Author(s):  
Christopher D. Stephen ◽  
Louis R. Caplan

‘Stroke mimics: Transient focal neurological events’ explores the important stroke-like symptoms that are due to non-cerebrovascular causes. Stroke mimics account for up to 31% of code stroke presentations, and up to 60% of potential TIAs. The most common stroke mimics are seizures, migrainous auras, and functional neurological disorders. Making an astute clinical decision based on the history and examination is particularly important as imaging cannot definitely rule out stroke. The chapter includes interesting case vignettes and discusses differential diagnoses like migraine, seizures, transient global amnesia, vertigo, functional neurological disorders, neuromuscular disorders, tumours, syncope, primary ophthalmic problems, and some other rare conditions.


2009 ◽  
Vol 9 ◽  
pp. 1300-1305 ◽  
Author(s):  
Lori Dyer ◽  
Israel Franco

Although, the role of Botulinum Toxin-A in the treatment of the neurogenic and non-neurogenic neurogenic bladder is becoming more defined, this is the first review article to characterize the emerging role of Botulinum Toxin-A in the pediatric urologic population. Injection of Botulinum Toxin-A at the level of the bladder works by inhibiting uninhibited bladder contractions and, possibly, by blocking some of the sensory nerve fibers. In children with sphincter dyssynergy, injection at the level of the urethral sphincter works by inhibiting the involuntary guarding reflex and blocking dyssynergic voiding.


Author(s):  
Carl Waldmann ◽  
Neil Soni ◽  
Andrew Rhodes

Agitation and confusion 360Status epilepticus 362Meningitis 364Intracerebral haemorrhage 366Subarachnoid haemorrhage 368Ischaemic stroke 370Guillain–Barre syndrome 372Myasthenia gravis 374ICU neuromuscular disorders 376Tetanus 378Botulism 380Neurorehabilitation 382Hyperthermias 384Agitation and confusion are common features in critical illness. Agitation is a symptom or sign of numerous acute and chronic disease states that include pain, anxiety and delirium. Agitation is present in around half of ICU patients, with 15% experiencing severe agitation. Confusion may also be chronic or acute and arise from an overlapping set of pathological processes that includes hypoxia, hypotension, hypoglycaemia and dementia. It is possible to be agitated and not confused, and vice versa. Recognition and treatment of the underlying condition is of utmost importance, rather than treating the symptoms alone....


2007 ◽  
Vol 19 (4) ◽  
pp. 363-363
Author(s):  
Hajime Asama ◽  
◽  
Jun Ota ◽  

Animals behave adaptively in diverse environments. Adaptive behavior, which is one of intelligent sensory-motor functions, is disturbed in patients with neurological disorders. Mechanisms for the generation of intelligent adaptive behaviors are not well understood. Such an adaptive function is considered to emerge from the interaction of the body, brain, and environment, which requires that a subject acts or moves. Intelligence for generating adaptive motor functions is thus called mobiligence. This special issue features papers dealing with mobiligence. The 18 papers were selected after a thorough peer review. The scope of these papers extends from analytical studies close to biology to synthetic studies close to engineering. Subjects are diverse – insects, monkeys, human beings, robots, networks. All papers play a part in mobiligence studies. We thank the Editorial Board of Journal of Robotics and Mechatronics for giving us the opportunity for publishing this special issue. We also thank the authors for their perseverance and expertise, and deeply appreciate the timely and helpful comments of the reviewers.


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