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1.
Mitochondrial Membrane-protein Associated Neurodegeneration (MPAN) is a rare disease, caused by C19orf12 mutations and up to 29 different mutations have been described. We report a young woman presented with spastic paraparesis due to C19orf12 gene. MPAN presenting like Hereditary spastic paraplegia-43 is rare and the genetic mutation had been described only once in the literature. 相似文献
2.
目的:应用Meta分析评价肌电生物反馈治疗痉挛型脑瘫的作用。方法:检索PubMed、Embase、Cochrane图书馆及中国生物医学文献数据库、CNKI、维普、万方数据库中2009年1月~2019年6月关于肌电生物反馈治疗痉挛型脑瘫的随机对照试验,利用RevMan 5.3软件进行Meta分析。结果:纳入10项随机对照试验,共613个病例;肌电生物反馈可以改善脑瘫患儿踝关节活动度(MD=5.06,95%CI=4.01~6.10,P<0.01),改善粗大运动功能(GMFM D区MD=3.75,95%CI=2.75~4.75,P<0.01;GMFM E区MD=6.04,95%CI=4.82~7.26,P<0.01),改善腓肠肌痉挛程度(MD=5.19,95%CI=-0.52^-0.39,P<0.01)。结论:肌电生物反馈在改善脑瘫患儿下肢运动功能方面具有一定效果,但所纳入研究的方法有局限性,还需更严格的设计和高质量的研究方法进一步证明。 相似文献
3.
《Annals of physical and rehabilitation medicine》2019,62(6):426-430
This paper revisits the taxonomy of the neurophysiological consequences of a persistent impairment of motor command execution in the classic environment of sensorimotor restriction and muscle hypo-mobilization in short position. Around each joint, the syndrome involves 2 disorders, muscular and neurologic. The muscular disorder is promoted by muscle hypo-mobilization in short position in the context of paresis, in the hours and days after paresis onset: this genetically mediated, evolving myopathy, is called spastic myopathy. The clinician may suspect it by feeling extensibility loss in a resting muscle, although long after the actual onset of the disease. The neurologic disorder, promoted by sensorimotor restriction in the context of paresis and by the muscle disorder itself, comprises 4 main components, mostly affecting antagonists to desired movements: the first is spastic dystonia, an unwanted, involuntary muscle activation at rest, in the absence of stretch or voluntary effort; spastic dystonia superimposes on spastic myopathy to cause visible, gradually increasing body deformities; the second is spastic cocontraction, an unwanted, involuntary antagonist muscle activation during voluntary effort directed to the agonist, aggravated by antagonist stretch; it is primarily due to misdirection of the supraspinal descending drive and contributes to reducing movement amplitude; and the third is spasticity, one form of hyperreflexia, defined by an enhancement of the velocity-dependent responses to phasic stretch, detected and measured at rest (another form of hyperreflexia is “nociceptive spasms”, following flexor reflex afferent stimulation, particularly after spinal cord lesions). The 3 main forms of overactivity, spastic dystonia, spastic cocontraction and spasticity, share the same motor neuron hyperexcitability as a contributing factor, all being predominant in the muscles that are more affected by spastic myopathy. The fourth component of the neurologic disorder affects the agonist: it is stretch-sensitive paresis, which is a decreased access of the central command to the agonist, aggravated by antagonist stretch. Improved understanding of the pathophysiology of deforming spastic paresis should help clinicians select meaningful assessments and refined treatments, including the utmost need to preserve muscle tissue integrity as soon as paresis sets in. 相似文献
4.
V. Chelban M. Alsagob K. Kloth A. Chirita‐Emandi J. Vandrovcova R. Maroofian I. Davagnanam S. Bakhtiari M. D. AlSayed Z. Rahbeeni H. AlZaidan N. T. Malintan J. Johannsen S. Efthymiou E. Ghayoor Karimiani K. Mankad S. A. Al‐Shahrani M. Beiraghi Toosi M. AlShammari S. Groppa N. A. Haridy L. AlQuait A. Qari R. Huma M. A. Salih R. Almass F. B. Almutairi M. H. Hamad I. A. Alorainy K. Ramzan F. Imtiaz M. Puiu M. C. Kruer T. Bierhals N. W. Wood D. Colak H. Houlden N. Kaya 《European journal of neurology》2020,27(2):334-342
5.
Tarishi Nemani Dora Steel Marios Kaliakatsos Catherine DeVile Athina Ververi Richard Scott Spas Getov Sniya Sudhakar Alison Male Kshitij Mankad Francesco Muntoni Mary M Reilly Manju A Kurian Lucinda Carr Pinki Munot 《Journal of the peripheral nervous system : JPNS》2020,25(2):117-124
KIF1A‐related disorders (KRD) were first described in 2011 and the phenotypic spectrum has subsequently expanded to encompass a range of central and peripheral nervous system involvement. Here we present a case series demonstrating the range of clinical, neurophysiological, and radiological features which may occur in childhood‐onset KRD. We report on all the children and young people seen at a single large tertiary centre. Data were collected through a retrospective case‐notes review. Twelve individuals from 10 families were identified. Eight different mutations were present, including four novel mutations. Two patients displayed a very severe phenotype including congenital contractures, severe spasticity and/or dystonia, dysautonomia, severe sensorimotor polyneuropathy and optic atrophy, significant white matter changes on brain MRI, respiratory insufficiency, and complete lack of neurodevelopmental progress. The remaining 10 patients represented a spectrum of severity with common features including a movement disorder with spasticity and/or dystonia, subtle features of dysautonomia, sensory axonal neuropathy, varying degrees of optic atrophy and of learning and/or behavioural difficulties, and subtle or absent—but sometimes progressive—changes in white matter on MRI. Epilepsy was common among the more severely affected children. This case series demonstrates that KRD comprise a range of neurological disorders, with both the milder and the more severe forms combining central and peripheral (including autonomic) nervous system deficits. 相似文献
6.
7.
Shozo Sueda 《Internal medicine (Tokyo, Japan)》2020,59(24):3117
Objective Acetylcholine (ACh) use in patients with bronchial asthma (BA) is contraindicated. We examined the clinical usefulness and safety of ACh spasm provocation tests in rest angina patients with BA. Patients The study subjects were 495 rest angina patients (mean age: 64.4±10.9 years old, male: 81.0%). Organic stenosis was found in 69 patients (13.9%). Methods We investigated 495 rest angina patients who underwent ACh spasm provocation tests. ACh was injected in incremental doses of 20/50/100/200 μg into the left coronary artery and 20/50/80 μg into the right coronary artery. Provoked positive spasm was defined as transient ≥90% luminal narrowing and usual chest pain or ischemic electrocardiogram changes. Results Among 495 rest angina patients, 13 (2.6%) were complicated with BA. Eleven patients with BA were controlled under medications, and two patients had a history of medication for BA. The clinical characteristics were not markedly different between rest angina patients with and without BA. The rate of multi-vessel spasm was markedly higher in patients with BA than that in those without BA. No complications during ACh spasm provocation tests were recognized in rest angina patients with BA, whereas major complications in those without BA were observed in eight patients including two ventricular fibrillations, three non-sustained ventricular tachycardias, and three shocks. We were able to perform all 495 ACh spasm provocation tests without any irreversible complications, while electrical defibrillation was necessary for 2 patients without BA. Conclusion We were able to perform ACh spasm provocation tests in rest angina patients with BA irrespective of the off-label use of ACh. 相似文献
8.
Aakash Shetty Ziv Gan-Or Setareh Ashtiani Jennifer A. Ruskey Bart van de Warrenburg Tessa Wassenberg Erik-Jan Kamsteeg Guy A. Rouleau Oksana Suchowersky 《European journal of medical genetics》2019,62(12):103605
Aims and objectiveTo characterize the phenotype of CAPN1 (SPG76) mutations in patients diagnosed with hereditary spastic paraplegia (HSP).BackgroundThe CAPN1 gene, located on chromosome 11q13.1, is a protein-coding gene involved in neuronal plasticity, migration, microtubular regulation and cerebellar development. Several families with CAPN1 mutations have recently been reported to present with autosomal recessive (AR) HSP and/or ataxia.MethodPatients with HSP were identified through neurological and genetic clinics with detailed phenotyping. Whole exome sequencing revealed novel pathogenic CAPN1 mutations in four patients from 3 families.ResultsAffected families were of Turkish, Japanese, and Punjabi descent and all were consanguineous. Onset of spastic paraplegia in the four patients was between 20 and 37 years. Two also had mild ataxia. Three different novel, homozygous mutations in CAPN1 were found: c.2118+1G > T, c.397C > T, c.843+1G > C. The patient with the earliest onset also manifested profound muscle weakness, likely related to a second homozygous mutation in DYSF (dysferlinopathy).ConclusionsThe phenotype of AR CAPN1 mutations appears to be spastic paraplegia with or without ataxia; onset is most commonly in adulthood. Eye movement abnormalities, skeletal defects, peripheral neuropathy and amyotrophy can sometimes be seen. Occasionally, patients can present with ataxia, illustrating the genotypic and phenotypic overlap between HSP and spastic ataxia. With the advent of exome sequencing, mutations in more than one gene can be identified, which may contribute to the phenotypic variation, even within a family. 相似文献
9.
Suzanna G.M. Frints Friederike Hennig Roberto Colombo Sebastien Jacquemont Paulien Terhal Holly H. Zimmerman David Hunt Bryce A. Mendelsohn Ulrike Kordaß Richard Webster Margje Sinnema Omar Abdul‐Rahman Vanessa Suckow Alberto Fernndez‐Jan Kees van Roozendaal Servi J.C. Stevens Merryn V.E. Macville Salwan Al‐Nasiry Koen van Gassen Norbert Utzig Suzanne M. Koudijs Lesley McGregor Saskia M. Maas Diana Baralle Abhijit Dixit Peter Wieacker Marcus Lee Arthur S. Lee Elizabeth C. Engle Gunnar Houge Gyri A. Gradek Andrew G.L. Douglas Cheryl Longman Shelagh Joss Danita Velasco Raoul C. Hennekam Hiromi Hirata Vera M. Kalscheuer 《Human mutation》2019,40(12):2270-2285
Pathogenic variants in the X‐linked gene ZC4H2, which encodes a zinc‐finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. We present genetic and detailed phenotypic information on 23 newly identified families and simplex cases that include 19 affected females from 18 families and 14 affected males from nine families. Of note, the 15 females with deleterious de novo ZC4H2 variants presented with phenotypes ranging from mild to severe, and their clinical features overlapped with those seen in affected males. By contrast, of the nine carrier females with inherited ZC4H2 missense variants that were deleterious in affected male relatives, four were symptomatic. We also compared clinical phenotypes with previously published cases of both sexes and provide an overview on 48 males and 57 females from 42 families. The spectrum of ZC4H2 defects comprises novel and recurrent mostly inherited missense variants in affected males, and de novo splicing, frameshift, nonsense, and partial ZC4H2 deletions in affected females. Pathogenicity of two newly identified missense variants was further supported by studies in zebrafish. We propose ZC4H2 as a good candidate for early genetic testing of males and females with a clinical suspicion of fetal hypo‐/akinesia and/or (neurogenic) AMC. 相似文献
10.