BACKGROUND: Spasticity is a common feature in patients with disruptions in corticospinal pathways. However, the term is used ambiguously. Here, spasticity is defined as enhanced velocity-dependent stretch reflexes and placed within the context of deforming spastic paresis encompassing other forms of muscle overactivity. OBJECTIVE: This scoping review aims at evaluating the clinimetric quality of clinical outcome assessments (COAs) for spasticity across different pathologies and to make recommendations for their use. METHODS: A literature search was conducted to identify COAs used to assess spasticity. An international expert panel evaluated the measurement properties in the included COAs. Recommendations were based on the MDS-COA program methodology based on three criteria: if the COA was (1) applied to patients with spastic paresis, (2) used by others beyond the developers, and (3) determined to be reliable, valid, and sensitive to change in patients with spasticity. RESULTS: We identified 72 COAs of which 17 clinician-reported outcomes (ClinROs) and 6 patient-reported outcomes (PROs) were reviewed. The Tardieu Scale was the only ClinRO recommended for assessing spasticity. One ClinRO-Composite Spasticity Index-and two PROs-Spasticity 0-10 Numeric Rating Scale and 88-Item Multiple Sclerosis Spasticity Scale-were recommended with caveats. The Ashworth-derived COAs were excluded after evaluation due to their focus on muscle tone rather than spasticity, as defined in this review. CONCLUSIONS: The Tardieu Scale is recommended for assessing spasticity, and two PROs are recommended with caveats. Consistent terminology about the various types of muscle overactivity is necessary to facilitate their assessment and treatment. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

• MeSH
• hodnocení výsledků zdravotní péče * normy   MeSH
• lidé MeSH
• svalová spasticita * patofyziologie   diagnóza   etiologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

STUDY DESIGN: A psychometric study. OBJECTIVES: To introduce a novel simple tool designed to evaluate the intensity of the phasic (dynamic) component of spastic motor behavior in spinal cord injury (SCI) people and to assess its reliability and validity. SETTING: The study was developed in the Spinal Cord Unit at University Hospital Motol and Paraple Centre in Prague, Czech Republic. METHODS: The Muscle Excitability Scale (MES) is designed to rate muscle motor response to exteroceptive and proprioceptive stimuli. The impairment rating ranges from zero muscle/muscle group spasm or clonus to generalized spastic response. The selected 0 to 4 scale allows for comparing the MES results with those of the Modified Ashworth Scale (MAS). After long-term use and repeated revisions, a psychometric analysis was conducted. According to the algorithm, two physiotherapists examined 50 individuals in the chronic stage after SCI. RESULTS: The inter-rater reliability of MES for both legs showed κ = 0.52. The intra-rater reliability of MES for both legs showed κ = 0.50. The inter-rater reliability of simultaneously assessed MAS for both legs was higher, with κ = 0.69. The intra-rater reliability of MAS for both legs showed κ = 0.72. Spearman's rank correlation coefficient between MES and spasm frequency of Penn Spasm Frequency Scale (PSFS) was low, while the correlation coefficient between MES and the severity part of PSFS was moderate. CONCLUSIONS: The MES is a complementary tool for assessing the dynamic component of spastic motor behavior in SCI people. It allows a more comprehensive clinical characterization of spastic reflexes when used along with the MAS.

• MeSH
• dospělí MeSH
• kosterní svaly patofyziologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• poranění míchy * patofyziologie   diagnóza   komplikace   MeSH
• psychometrie * MeSH
• reprodukovatelnost výsledků MeSH
• senioři MeSH
• stupeň závažnosti nemoci MeSH
• svalová spasticita * patofyziologie   diagnóza   etiologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• afázie rehabilitace   MeSH
• časné pohybování * MeSH
• heterotopická osifikace terapie   MeSH
• lidé MeSH
• management bolesti MeSH
• neurogenní močový měchýř rehabilitace   MeSH
• neurorehabilitace * MeSH
• poruchy polykání rehabilitace   MeSH
• svalová spasticita diagnóza   rehabilitace   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

Centrální poiktový bolestivý syndrom (Central Post­‐Stroke Pain, CPSP) je definován jako bolestivý stav po proběhlé centrální mozkové příhodě s prokázanou lézí v centrálním nervovém systému (CNS). Klinické příznaky se objevují již 1-3 měsíce po proběhlém iktu, ale u většiny postižených pacientů je to doba až 6 měsíců. Mezi hlavní klinické projevy patří bolest hlavy tenzního charakteru, bolest spojená se svalovou spasticitou a syndrom bolestivého ramene s možným rozvojem komplexního regionálního bolestivého syndromu (KRBS). Léčba kombinuje užívání analgetik (amitriptylin, karbamazepin, gabapentinoidy), fyzioterapii a psychoterapeutické postupy.

Central Post-Stroke Pain (CPSP) is defined as a painful condition after a central stroke with a proven lesion in the central nervous system (CNS). Clinical signs appear as early as 1-3 months after the stroke, but in most affected patients it is up to 6 months. Major clinical manifestations include tension headache, pain associated with muscle spasticity and pain shoulder syndrome with possible development of complex regional pain syndrome (CRPS). The treatment combines the use of analgesics (amitriptyline, carbamazepine, gabapentinoids), physiotherapy and psychotherapeutic procedures.

• Klíčová slova
• centrální poiktový syndrom,
• MeSH
• analgetika farmakologie   klasifikace   terapeutické užití   MeSH
• cévní mozková příhoda * diagnóza   komplikace   MeSH
• elektrostimulační terapie klasifikace   metody   přístrojové vybavení   MeSH
• komplexní regionální syndromy bolesti * diagnóza   etiologie   farmakoterapie   MeSH
• lidé MeSH
• management nemoci MeSH
• svalová spasticita diagnóza   etiologie   MeSH
• tenzní bolesti hlavy diagnóza   etiologie   farmakoterapie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

Spasticita je závažným klinickým projevem poškození centrálního motoneuronu, k němuž dochází při ischemii, hemoragii, traumatu, zánětu, nádoru či v rámci neurodegenerativních onemocnění. Rozlišují se dva typy spasticity - cerebrální a spinální. U cerebrálních lézí dochází ke ztrátě vlivu mozkové kůry na kmenové inhibiční struktury, zatímco u spinálních lézí je přítomna spastická dystonie a převažuje postižení flexorů. Pro posouzení typu a stupně spasticity je důležité u každého nemocného provést pečlivé klinické vyšetření. K tomu slouží řada škál a dotazníkových metod. Nejčastěji se používá Ashworthova stupnice svalového hypertonu a její modifikace. Cílem léčby spasticity je zlepšit funkci spastických končetin, zvýšit soběstačnost pacienta, snížit výskyt komplikací, zmírnit doprovodné bolesti, zlepšit kvalitu života. Léčba spasticity zahrnuje rehabilitaci a farmakologickou léčbu, případně ji lze řešit chirurgicky. Jednotlivé léčebné postupy je možno zvolit podle stupně a intenzity spasticity, ale záleží i na aktivitách a cílech konkrétního nemocného. Obvykle se začíná kombinací rehabilitace a farmakologické léčby. Z léčiv se nejčastěji používá baklofen a tizanidin, případně kanabinoidy. Lokalizovanou spasticitu lze ovlivnit aplikací botulotoxinu do spastických svalových skupin. U těžké difuzní spasticity má velmi dobrý efekt intratékální podání baklofenu pumpovými systémy. V indikovaných případech lze přistoupit k chirurgickému řešení (myelotomie, DREZotomie). Léčba spasticity je dlouhodobá a vyžaduje multidisciplinární přístup.

Spasticity is one of the serious clinical manifestations of damage to the central motoneuron, which occurs during ischemia, hemorrhage, trauma, inflammation, tumor or as part of neurodegenerative disorders. There are two types of spasticity - cerebral and spinal. In cerebral lesions, there is a loss of the influence of the cerebral cortex on trunk inhibitory structures, while in spinal lesions, spastic dystonia of a severe degree is present and flexor involvement predominates. A careful clinical examination of each patient is important to assess the type and degree of spasticity. A number of scales and questionnaire methods are used for this. Ashworth scale of muscle hypertonia and its modifications are most often used. The goal of spasticity treatment is to improve the function of spastic limbs, enable better independence, reduction of complications, decrease of accompanying pain, and improvement quality of life. The treatment of spasticity consists of rehabilitation, pharmacological or can be solved surgically. Individual treatment procedures are chosen according to the degree and intensity of spasticity, but it also depends on the activities and goals of the specific patient. Treatment of spasticity in most cases begins with a combination of rehabilitation and pharmacological treatment. The most often used drugs are baclofen and tizanidine, or cannabinoids. Focal spasticity can be treated by administration of botulinum toxin into spastic muscle groups. In severe diffuse spasticity, the intrathecal administration of baclofen by continuous pump systems has a very good effect. In some cases, a surgical approach to spasticity treatment (myelotomy, DREZotomy) can also be chosen. The treatment of spasticity is a long-term process and requires multidisciplinary approach.

• MeSH
• antikonvulziva aplikace a dávkování   terapeutické užití   MeSH
• baklofen aplikace a dávkování   farmakologie   terapeutické užití   MeSH
• botulotoxiny aplikace a dávkování   terapeutické užití   MeSH
• centrálně působící myorelaxancia MeSH
• lidé MeSH
• mozková obrna * diagnóza   rehabilitace   terapie   MeSH
• svalová spasticita * diagnóza   rehabilitace   terapie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. Neonatal and early-onset patients mostly exhibit a life-threatening acute neurologic deterioration. Furthermore, data on early-onset patients' long-term outcomes are scarce. The aims of this study were (1) to study and describe the clinical and laboratory parameters of early-onset MTHFR-deficient patients (i.e., ≤3 months of age) and (2) to identify predictive factors for severe neurodevelopmental outcomes in a cohort with early and late onset MTHFR-deficient patients. To this end, we conducted a retrospective, multicentric, international cohort study on 72 patients with MTHFR deficiency from 32 international metabolic centres. Characteristics of the 32 patients with early-onset MTHFR deficiency were described at time of diagnosis and at the last follow-up visit. Logistic regression analysis was used to identify predictive factors of severe neurodevelopmental outcome in a broader set of patients with early and non-early-onset MTHFR deficiency. The majority of early-onset MTHFR-deficient patients (n = 32) exhibited neurologic symptoms (76%) and feeding difficulties (70%) at time of diagnosis. At the last follow-up visit (median follow-up time of 8.1 years), 76% of treated early-onset patients (n = 29) exhibited a severe neurodevelopmental outcome. Among the whole study population of 64 patients, pre-symptomatic diagnosis was independently associated with a significantly better neurodevelopmental outcome (adjusted OR 0.004, [0.002-0.232]; p = 0.003). This study provides evidence for benefits of pre-symptomatic diagnosis and appropriate therapeutic management, highlighting the need for systematic newborn screening for MTHFR deficiency and pre-symptomatic treatment that may improve outcome.

• MeSH
• homocystein MeSH
• homocystinurie * diagnóza   farmakoterapie   MeSH
• kohortové studie MeSH
• lidé MeSH
• methylentetrahydrofolátreduktasa (NADPH2) nedostatek   genetika   MeSH
• novorozenec MeSH
• psychotické poruchy MeSH
• retrospektivní studie MeSH
• svalová spasticita diagnóza   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency usually presents as a severe neonatal disease. This study aimed to characterize natural history, biological and molecular data, and response to treatment of patients with late-onset MTHFR deficiency. The patients were identified through the European Network and Registry for Homocystinuria and Methylation Defects and the Adult group of the French Society for Inherited Metabolic Diseases; data were retrospectively colleted. To identify juvenile to adult-onset forms of the disease, we included patients with a diagnosis established after the age of 10 years. We included 14 patients (median age at diagnosis: 32 years; range: 11-54). At onset (median age: 20 years; range 9-38), they presented with walking difficulties (n = 8), cognitive decline (n = 3) and/or seizures (n = 3), sometimes associated with mild mental retardation (n = 6). During the disease course, symptoms were almost exclusively neurological with cognitive dysfunction (93%), gait disorders (86%), epilepsy (71%), psychiatric symptoms (57%), polyneuropathy (43%), and visual deficit (43%). Mean diagnostic delay was 14 years. Vascular events were observed in 28% and obesity in 36% of the patients. One patient remained asymptomatic at the age of 55 years. Upon treatment, median total homocysteine decreased (from 183 μmol/L, range 69-266, to 90 μmol/L, range 20-142) and symptoms improved (n = 9) or stabilized (n = 4). Missense pathogenic variants in the C-terminal regulatory domain of the protein were over-represented compared to early-onset cases. Residual MTHFR enzymatic activity in skin fibroblasts (n = 4) was rather high (17%-58%). This series of patients with late-onset MTHFR deficiency underlines the still unmet need of a prompt diagnosis of this treatable disease.

• MeSH
• dítě MeSH
• dospělí MeSH
• epilepsie diagnóza   patologie   MeSH
• homocystinurie diagnóza   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mentální retardace diagnóza   patologie   MeSH
• methylentetrahydrofolátreduktasa (NADPH2) nedostatek   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• opožděná diagnóza MeSH
• psychotické poruchy diagnóza   patologie   MeSH
• retrospektivní studie MeSH
• svalová spasticita diagnóza   patologie   MeSH
• věk při počátku nemoci MeSH
• záchvaty diagnóza   patologie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

ABSTRACT: In dystonic and spastic movement disorders, abnormalities of motor control and somatosensory processing as well as cortical modulations associated with clinical improvement after botulinum toxin A (BoNT-A) treatment have been reported, but electrophysiological evidence remains controversial. In the present observational study, we aimed to uncover central correlates of post-stroke spasticity (PSS) and BoNT-A-related changes in the sensorimotor cortex by investigating the cortical components of somatosensory evoked potentials (SEPs). Thirty-one chronic stroke patients with PSS of the upper limb were treated with BoNT-A application into the affected muscles and physiotherapy. Clinical and electrophysiological evaluations were performed just before BoNT-A application (W0), then 4 weeks (W4) and 11 weeks (W11) later. PSS was evaluated with the modified Ashworth scale (MAS). Median nerve SEPs were examined in both upper limbs with subsequent statistical analysis of the peak-to-peak amplitudes of precentral P22/N30 and postcentral N20/P23 components. At baseline (W0), postcentral SEPs were significantly lower over the affected cortex. At follow up, cortical SEPs did not show any significant changes attributable to BoNT-A and/or physiotherapy, despite clear clinical improvement. Our results imply that conventional SEPs are of limited value in evaluating cortical changes after BoNT-A treatment and further studies are needed to elucidate its central actions.

• MeSH
• botulotoxiny typu A aplikace a dávkování   MeSH
• cévní mozková příhoda komplikace   patofyziologie   MeSH
• dospělí MeSH
• horní končetina inervace   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• následné studie MeSH
• nervosvalové látky aplikace a dávkování   MeSH
• nervus medianus účinky léků   patofyziologie   MeSH
• rehabilitace po cévní mozkové příhodě metody   MeSH
• senioři MeSH
• somatosenzorické evokované potenciály účinky léků   MeSH
• somatosenzorické korové centrum účinky léků   patofyziologie   MeSH
• svalová spasticita diagnóza   farmakoterapie   etiologie   patofyziologie   MeSH
• terapie cvičením metody   MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• pozorovací studie MeSH

PURPOSE: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. METHODS: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres. RESULTS: NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second-tier marker total homocysteine (tHcy). The median decision limits of all centres were ≥ 2.35 for high and ≤ 0.44 MoM for low methionine, ≥ 1.95 for high and ≤ 0.47 MoM for low methionine/phenylalanine, ≥ 2.54 for high propionylcarnitine and ≥ 2.78 MoM for propionylcarnitine/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second-tier testing costs, we further adapted these decision limits using the data of 15 000 healthy newborns. CONCLUSIONS: Due to the favorable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, for example, birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second-tier markers.

• MeSH
• acylkarnitin metabolismus   MeSH
• fenylalanin metabolismus   MeSH
• glycin-N-methyltransferasa nedostatek   metabolismus   MeSH
• homocystein metabolismus   MeSH
• homocystinurie diagnóza   metabolismus   MeSH
• karnitin analogy a deriváty   metabolismus   MeSH
• kyselina methylmalonová metabolismus   MeSH
• lidé MeSH
• methionin metabolismus   MeSH
• methylentetrahydrofolátreduktasa (NADPH2) nedostatek   metabolismus   MeSH
• novorozenec MeSH
• novorozenecký screening metody   MeSH
• psychotické poruchy diagnóza   metabolismus   MeSH
• svalová spasticita diagnóza   metabolismus   MeSH
• vrozené poruchy metabolismu aminokyselin diagnóza   metabolismus   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

BACKGROUND: Neuroanatomic substrates responsible for development of post-stroke spasticity are still poorly understood. The study is focused on identification of brain regions within the territory of the middle cerebral artery associated with spasticity development. METHODS: This is a single-center prospective cohort study of first documented anterior circulation ischemic strokes with a neurologic deficit lasting >7 days (from March 2014 to September 2016, all patients are involved in a registry). Ischemic cerebral lesions within the territory of middle cerebral artery were evaluated using the Alberta Stroke Program Early CT Score (ASPECTS) on control 24-hour computed tomography or magnetic resonance imaging. Spasticity was assessed with modified Ashworth scale. RESULTS: Seventy-six patients (mean age 72 years, 45% females; 30% treated with IV tissue plasminogen activator, 6.5% mechanical thrombectomy) fulfilled the study inclusion criteria. Forty-nine (64%) developed early elbow or wrist flexor spasticity defined as modified Ashworth scale >1 (at day 7-10), in 44 (58%) the spasticity remained present at 6 months. There were no differences between the patients who developed spasticity and those who did not when comparing admission stroke severity (National Institutes of Health Stroke Scale 5 [interquartile range {IQR} 4-8] versus 6 [IQR 4-10]) and vascular risk factors (hypertension, diabetes mellitus, dyslipidemia, atrial fibrillation, coronary artery disease). Nor was there a difference in 24-hour ASPECTS score (9 [IQR 8-10] versus 9 [IQR 7-10]). No differences were found between the groups with and without the early upper limb flexor spasticity of particular regions (M1, M2, M3, M4, M5, M6, lentiform, insula, caudate, internal capsule) and precentral-postcentral gyrus, premotor cortex, supplementary motor area, posterior limb of internal capsule, and thalamus were compared. CONCLUSIONS: We did not find any middle cerebral artery territory associated with post-stroke spasticity development by detailed evaluation of ASPECTS.

• MeSH
• časná diagnóza MeSH
• časové faktory MeSH
• difuzní magnetická rezonance MeSH
• horní končetina inervace   MeSH
• infarkt arteria cerebri media komplikace   diagnostické zobrazování   patofyziologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• metody pro podporu rozhodování * MeSH
• mozek krevní zásobení   diagnostické zobrazování   MeSH
• mozkový krevní oběh MeSH
• multidetektorová počítačová tomografie * MeSH
• pohybová aktivita MeSH
• prediktivní hodnota testů MeSH
• prognóza MeSH
• prospektivní studie MeSH
• registrace MeSH
• rizikové faktory MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• stupeň závažnosti nemoci MeSH
• svalová spasticita diagnóza   etiologie   patofyziologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH