Spastic dystonia: Still a valid term.

Hypertonia in childhood may arise because of a variable combination of neuronal and non-neuronal factors. Involuntary muscle contraction may be due to spasticity or dystonia, which represent disorders of the spinal reflex arch and of central motor output respectively. Whilst consensus definitions for dystonia have been established, definitions of spasticity vary, highlighting the lack of a single unifying nomenclature in the field of clinical movement science. The term spastic dystonia refers to involuntary tonic muscle contraction in the context of an upper motor neuron (UMN) lesion. This review considers the utility of the term spastic dystonia, exploring our understanding of the pathophysiology of dystonia and the UMN syndrome. An argument is advanced that spastic dystonia is a valid construct that warrants further exploration. WHAT THIS PAPER ADDS: There is no single universally accepted definitions for terms commonly used to describe motor disorders. Spasticity and dystonia are phenomenologically and pathophysiologically distinct entities. Spastic dystonia represents a subset of dystonia, but with pathophysiological mechanisms more in common with spasticity.

Clinical assessment of upper limb hypertonia in central neurological diseases.

The clinical assessment of a hypertonic upper limb in central neurological diseases should be analytical, systematic (shoulder, elbow, extrinsic and intrinsic hand) and focused on the patient or caregiver's wishes and on the expected objectives (esthetic, hygienic, functional). Nerve blocks can help to separate mixed contractures, show the existence of antagonist muscles or find a starter muscle in dystonia patterns. The etiology (especially the evolving nature of the disease), general health condition (especially in older adults), associated deficits (cerebellar, sensory and cognitive; hemineglect) are considered together to arrive at a contract with patients and/or caregivers.

Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia.

Neonatal Schwartz-Jampel syndrome type II is a rare and severe form of genetic disorder. Different from the classical appearance in infancy, neonatal presentation involves respiratory and feeding difficulties, along with characteristic pursed appearance of the mouth, myotonia, skeletal dysplasia and severe fatal hyperthermia. The clinical spectrum of this syndrome is so wide that it easily baffles with more common differentials. In this case report, a neonate born to third-degree consanguineous marriage with previous two abortions presented with respiratory difficulty, severe hyperthermia and feeding difficulty, which were daunting challenges to manage due to being refractory to standard line of management. Severe myotonia and gross dysmorphism were challenging dots to connect. Targeted exome sequencing was a ray of hope, which revealed homozygous mutation in the leukaemia inhibitory factor receptor gene on chromosome 5p13, confirming the genetic diagnosis for a fairly common spectrum of symptoms. The neonate later developed pneumoperitoneum and succumbed to underlying severe neonatal illness.

Identification of a new syndrome: ASS-SSA or anal sphincter syndrome.

AIM: The author proposes a new, original Syndrome, observing the relationship between some of the most frequent anal pathologies, apparently different from each other in terms of morphological aspect and symptomatologic expression, but united by the same pathogenic cause, represented by the hypertonicity of the anal sphincter apparatus. There are already descriptions of other "syndromes" of the pelvic floor, inaccurate and subject to different interpretations. The proposed syndrome, instead, called Anal Sphincter Syndrome - ASS (in Italian SSA - Sindrome dello Sfintere Anale) presents clarity on the determining cause (sphincter hypertonicity) and descriptive simplicity, including only two welldefined pathological conditions: anal fissure and anal thrombosis; other ancillary conditions or symptoms are inconstantly possible, but not decisive. The author will present, as soon as possible, in subsequent works, a retrospective study (still to be completed) on a wide personal case history, dating back to the 1990s. KEY WORDS: Anal sphincter hypertonia, Anal thrombosis, Anal fissure, Syndrome, Proctology, Somatization.

SpES: A new portable device for objective assessment of hypertonia in clinical practice.

Spasticity is a motor disorder that affects millions around the world. It is a particular type of hypertonia characterized by the speed-dependent increase of the muscle stretch reflex, where its correct evaluation is essential for rehabilitation. The preferred method for this assessment is the Modified Ashworth Scale (MAS), a rank derived from clinical observations. Currently, few methods can quantify this disorder objectively. Tonic Stretch Reflex Threshold (TSRT) is a parameter speed-dependent obtained from electromyographic (EMG) measurements and angular signals. Therefore, the objective was to develop portable equipment for quantitative assessments of hypertonia based on TSRT. To this end, we designed an instrument composed of single-channel EMG, flexible optical goniometer, and software for the online computing of TSRT from acquired signals. The new equipment named SpES (Spasticity Evaluation System) was applied to measuring hypertonia of the biceps brachii in twenty-two participants. The experiment was performed during manual passive stretching of the affected limb at predefined speeds. The results provided by SpES presented a satisfactory coefficient of determination (0.70) and a strong correlation with MAS (0.79). In summary, while MAS depends on precise clinical observations, SpES has the TSRT quantitative method embedded for reaching an objective assessment of hypertonia in clinical practice.

Muscle Tone Physiology and Abnormalities.

The simple definition of tone as the resistance to passive stretch is physiologically a complex interlaced network encompassing neural circuits in the brain, spinal cord, and muscle spindle. Disorders of muscle tone can arise from dysfunction in these pathways and manifest as hypertonia or hypotonia. The loss of supraspinal control mechanisms gives rise to hypertonia, resulting in spasticity or rigidity. On the other hand, dystonia and paratonia also manifest as abnormalities of muscle tone, but arise more due to the network dysfunction between the basal ganglia and the thalamo-cerebello-cortical connections. In this review, we have discussed the normal homeostatic mechanisms maintaining tone and the pathophysiology of spasticity and rigidity with its anatomical correlates. Thereafter, we have also highlighted the phenomenon of network dysfunction, cortical disinhibition, and neuroplastic alterations giving rise to dystonia and paratonia.

Classification of Congenital Zika Syndrome: Muscle Tone, Motor Type, Body Segments Affected, and Gross Motor Function.

Aim: To identify abnormalities in muscle tone and motor function associated with congenital Zika syndrome (CZS).Method: A cross-sectional observational study involving 96 children (55 males) with CZS at a mean (SD) age 35.2 ± 2.9 months. Children's muscle tone was investigated using the pull to sit, scarf sign, shoulder suspension and ventral suspension tests and the modified Ashworth scale (MAS). Motor impairment was determined using the Gross Motor Function Classification System (GMFCS) and body segments most affected with motor impairment.Results: 58 (60,5%) children tested positive for ≥1 maneuver used to evaluate muscle tone, while 38 (39.5%) tested negative in all the tests. MAS score was >0 for at least one of the appendicular muscles in 91 children (94.8%). In 88 children (91.7%), all four limbs were affected.Conclusion: Findings suggestive of axial hypotonia and appendicular hypertonia associated with severe motor impairment were prevalent in children with CZS.

Paratonia in Dementia: A Systematic Review.

BACKGROUND: Paratonia is a dementia-induced motor abnormality. Although paratonia affects virtually all people with dementia, it is not well known among clinicians and researchers. OBJECTIVE: The aim of this study was to perform a systematic review of the literature on the definition, pathogenesis, diagnosis, and intervention of paratonia as well as to propose a research agenda for paratonia. METHODS: In this systematic review, the Embase, PubMed, CINAHL, and Cochrane CENTRAL databases were searched for articles published prior to December 2019. Two independent reviewers performed data extraction and assessed the risk of bias of the studies. The following data were extracted: first author, year of publication, study design, study population, diagnosis, assessment, pathogenesis, therapy and interventions. RESULTS: Thirty-five studies met the inclusion criteria and were included. Most studies included in the review mention clinical criteria for paratonia. Additionally, pathogenesis, method of assessment, diagnosis, and paratonia severity as are interventions to address paratonia are also discussed. CONCLUSION: This systematic review outlines what is currently known about paratonia, as well as discusses the preliminary research on the underlying mechanisms of paratonia. Although paratonia has obvious devastating impacts on health and quality of life, the amount of research to date has been limited. In the last decade, there appears to have been increased research on paratonia, which hopefully will increase the momentum to further advance the field.

End Stage Clinical Features and Cause of Death of Behavioral Variant Frontotemporal Dementia and Young-Onset Alzheimer's Disease.

BACKGROUND: Limited literature exists regarding the clinical features of end stage behavioral variant frontotemporal dementia (bvFTD). This data is indispensable to inform and prepare family members as well as professional caregivers for the expected disease course and to anticipate with drug-based and non-pharmacological treatment strategies. OBJECTIVE: The aim of the present study was to describe end stage bvFTD in a broad explorative manner and to subsequently evaluate similarities and dissimilarities with the end stage of the most prevalent form of young-onset dementia, Alzheimer's disease (yoAD). METHODS: We analyzed medical files on patients, using a mixed model of qualitative and quantitative approaches. Included were previously deceased patients with probable bvFTD and probable yoAD. End stage was defined as the last 6 months prior to death. Primary outcome measures comprised somatic, neurological, and psychiatric symptoms and the secondary outcome measure was cause of death. RESULTS: Out of 89 patients, a total of 30 patients were included (bvFTD; n = 12, yoAD; n = 18). Overall, the end stages of bvFTD and yoAD were characterized by a broad spectrum of clinical symptoms including severe autonomic dysfunction and an increased muscle tone. Patients with bvFTD displayed more mutism compared with yoAD while compulsiveness was only present in bvFTD. CONCLUSION: Our study describes the full clinical spectrum of end stage bvFTD and yoAD. In this study, symptoms extend far beyond the initial behavioral and cognitive features. By taking both somatic, psychiatric, and neurological features into account, family members and professional caregivers may anticipate (non) pharmacological treatment.

Fifteen-minute consultation: A clinical approach to the management of the child with hypertonia.

Elevated tone (hypertonia) is a common problem seen in the paediatric clinic. For most children and young people, hypertonia is just one aspect of a broader disorder of movement and posture. This paper describes a clinical approach to the management of hypertonia in children, considering the contribution of high tone to the functional problems experienced by the child, the potential adverse effects of reducing tone, side effects of the intervention and the importance of setting objectives/goals for intervention which can be measured at follow-up. We describe this as the 'MOTOR' approach and provide some examples of how it can be used in practice.

Incidence of complications in the management of non-ambulatory neuromuscular early-onset scoliosis with a rib-based growing system: high- versus low-tone patients.

PURPOSE: The purpose of this study is to evaluate whether patients with high-tone neuromuscular early-onset scoliosis have different surgical outcome and complication rate, when compared to patients with low-tone neuromuscular early-onset scoliosis treated with a rib-to-pelvis rib-based dual growing system. METHODS: This is a retrospective cohort study of 67 neuromuscular early-onset scoliosis patients, collected from a multicenter database, treated with a rib-to-pelvis rib-based dual growing system. All patients were divided into two groups: high tone and low tone. Pre-, intra- and postoperative data were compared between both groups. Complications were reported by a standardized system. RESULTS: Twenty-six high-tone and 41 low-tone patients were found homogeneous regarding gender, age at surgery, weight, height, estimated blood loss and surgery time. High-tone group (19/26 = 73.1%) experiences more postoperative complications than low-tone group (22/41 = 53.7%). Most common complications were infection, device migration, death and hardware failure. Permanent abandonment of rib-based growing technique and device removal was required in 21% of high-tone patients (P < 0.001). None of the low-tone patients required abandonment. CONCLUSION: High-tone patients had more complications than those with low tone in management of neuromuscular early-onset scoliosis treated with a rib-to-pelvis rib-based dual growing system. A different surgical approach may be required to treat the high-tone neuromuscular early-onset scoliosis.

Hypertensive panesophageal pressurization in type II achalasia.

We present a case-report about a patient with type II achalasia. In the high-resolution esophageal manometry (HRM), an atypical hypertensive panesophageal pressurizations were observed. Until now, the presence of hypertensive panesophageal pressurizations in type II achalasia was described in only one case-report. A POEM was performed. After the treatment, the patient presents a complete resolution of the symptoms. Control HRM showed a partial recovery of esophageal motility and the hypotonia of the gastro-esophageal junction.

Lumbar muscles biomechanical characteristics in young people with chronic spinal pain.

BACKGROUND: The prevalence of low back pain is rising among the young adult population. Altered lumbar muscle tone was suggested to be associated with underlying pathologies and symptoms. To date, there is minimum information available on the repeatability of lumbar spine muscle mechanical properties in the young adults who experienced low back pain. This study aimed to assess the reproducibility of mechanical properties of lumbar spinal muscle in young adults with spinal pain by myotonometer and explored the difference in reproducibility when different number of indentations was used. METHODS: Participants who aged between 18 to 25 and reported chronic LBP were recruited. Lumbar muscle tone (Hz) and stiffness (N/m) were assessed by myotonometer on one occasion by two assessors. Parameters were recorded by triple scans and 5-scans mode. Intraclass correlation coefficient (ICC), standard error of measurement (SEM), smallest real difference (SRD), Bland and Altman analysis were used to assess agreement between two measurements. The relationship between muscle mechanical properties and pain score and disability level were assessed by Spearman's rank correlation coefficient. RESULTS: The results of ICCs indicated excellent repeatability in triple scans and 5-scans mode for each lumbar level bilaterally (ICC > 0.75). SEM and SRD were smaller in triple scans than 5-scans mode for most levels. Bland and Altman analysis revealed no systematic bias. Spearman's rank correlation analysis indicated significant high correlations between muscle tone and disability level (r = 0.80, p < 0.05), and between muscle stiffness and disability level (r = 0.81, p < 0.05). CONCLUSIONS: This study found that lumbar spinal muscle tone and stiffness were repeatable parameters when measured by myotonometer. The reproducibility of muscle mechanical parameters did not appear to differ between the two scanning modes with different number of indentations. Muscle tone and stiffness measured by myotonometer may therefore be reliable as outcome measures to assess intervention induced changes. The lack of significant association between intensity of pain and mechanical properties of paraspinal muscles may suggest that muscle properties measured at rest might not be related to pain level at rest but more related to pain elicited during movement.

Approach to infantile colic in primary care.

Infantile colic is a common self-limiting condition that causes significant distress to parents and caregivers. There is no clear cause, gold standard remedy or preventative action. The role of the family physician is to rule out sinister causes while providing counselling and reassurance for parents. The mainstay of management is parental support and reassurance while looking out for red flags in the baby such as fever, lethargy, distended abdomen and failure to thrive. This article provides a framework to approaching infantile colic and practical pointers to share with parents.

The Impact of Paratonia on Fine and Gross Motor Function in Older Adults With Mild and Moderate Dementia.

BACKGROUND: Dementia is associated with impairment in gait, balance, and fine motor function. Paratonia, a form of hypertonia, is often present in severe dementia. However, little is known about muscle tone in early dementia, and the eventual relation between muscle tone abnormalities and changes in fine and gross motor function. METHODS: Three groups of participants were included in the study: healthy controls (n=60), participants with mild dementia (MiD) (n=31), and participants with moderate dementia (n=31). Measurements of fine motricity (Purdue pegboard test), balance and gait (Dynaport Hybrid), the presence of paratonia (PAI), and muscle tone measurements (MyotonPRO) were performed. RESULTS: Paratonia was present in 42% of participants with MiD and in 58% of participants with moderate dementia. Participants with paratonia had lower Purdue Pegboard scores (P<0.001), lower balance coordination in semitandem stance (P<0.001), lower walking speed at a fast pace (P=0.001), and lower step regularity at normal (P=0.025) and fast (P<0.001) pace. CONCLUSIONS: Paratonia is already present in participants with MiD and is associated with a decline in both fine and gross motor performance. Early detection of paratonia might be helpful to detect persons at higher risk of motor deterioration and falls.

Reproducible Measurements of Muscle Characteristics Using the MyotonPRO Device: Comparison Between Individuals With and Without Paratonia.

BACKGROUND AND PURPOSE: The MyotonPRO is a portable device that measures muscle tone and biomechanical muscle properties objectively. MyotonPRO has already proven to be effective in measuring muscle properties in healthy and diseased populations. However, to the best of our knowledge, it has never been tested in individuals suffering from paratonia, a form of hypertonia frequently accompanying dementia. The aims of the present study were to (1) compare muscle tone, elasticity, and stiffness between 3 different subpopulations of young and old healthy adults and individuals with paratonia, and (2) investigate the intra- and interrater reproducibility of MyotonPRO measurements of the biceps brachii (BB) muscle in each subpopulation. METHODS: MyotonPRO measurements of muscle tone, elasticity, and dynamic stiffness were carried out by 2 investigators on 2 different days over the BB muscles of 54 participants (18 healthy young adults, 20 healthy older adults, and 16 older individuals with paratonia). Muscle properties were compared between subpopulations using ANOVA/Welch and post hoc tests. Reliability (intraclass correlation coefficient) and agreement parameters (standard error of measurement and the minimal detectable change) were calculated. RESULTS: Statistically significant differences between subpopulations were found in all parameters, except for stiffness between healthy elderly and individuals with paratonia. In the healthy subpopulations, (a) intrarater reliability was very high and intrarater agreement was good between 2 consecutive series, (b) between days intrarater reliability was low to high and intrarater agreement was variable, (c) interrater reliability was high to very high and interrater agreement was good. In individuals with paratonia, (a) intrarater reliability was moderate to high and agreement was variable between series, (b) between days intrarater reliability was poor to moderate and agreement was poor, (c) interrater reliability ranged from low to high with poor agreement. CONCLUSIONS: MyotonPRO measurements of the BB muscle showed good reproducibility in both healthy subpopulations, particularly for measurements performed within the same day. In individuals with paratonia, reliability and agreement were substantially lower. MyotonPRO can be used in clinical assessment and research. However, in individuals with paratonia, careful interpretation of results is required. Research in a larger sample of persons with paratonia at different stages of disease severity is recommended.

Psychometric Properties of the MyotonPRO in Dementia Patients with Paratonia.

BACKGROUND: Paratonia is a distinctive form of hypertonia, causing loss of functional mobility in early stages of dementia to severe high muscle tone and pain in the late stages. For assessing and evaluating therapeutic interventions, objective instruments are required. OBJECTIVE: Determine the psychometric properties of the MyotonPRO, a portable device that objectively measures muscle properties, in dementia patients with paratonia. METHODS: Muscle properties were assessed with the MyotonPRO by 2 assessors within one session and repeated by the main researcher after 30 min and again after 6 months. Receiver operating characteristic curves were constructed for all MyotonPRO outcomes to discriminate between participants with (n = 70) and without paratonia (n = 82). In the participants with paratonia, correlation coefficients were established between the MyotonPRO outcomes and the Modified Ashworth Scale for paratonia (MAS-P) and muscle palpation. In participants with paratonia, reliability (intraclass correlation coefficient) and agreement values (standard error of measurement and minimal detectable change) were established. Longitudinal outcome from participants with paratonia throughout the study (n = 48) was used to establish the sensitivity for change (correlation coefficient) and responsiveness (minimal clinical important difference). RESULTS: Included were 152 participants with dementia (mean [standard deviation] age of 83.5 [98.2]). The area under the curve ranged from 0.60 to 0.67 indicating the MyotonPRO is able to differentiate between participants with and without paratonia. The MyotonPRO explained 10-18% of the MAS-P score and 8-14% of the palpation score. Interclass correlation coefficients for interrater reliability ranged from 0.57 to 0.75 and from 0.54 to 0.71 for intrarater. The best agreement values were found for tone, elasticity, and stiffness. The change between baseline and 6 months in the MyotonPRO outcomes explained 8-13% of the change in the MAS-P scores. The minimal clinically important difference values were all smaller than the measurement error. CONCLUSION: The MyotonPRO is potentially applicable for cross-sectional studies between groups of paratonia patients and appears less suitable to measure intraindividual changes in paratonia. Because of the inherent variability in movement resistance in paratonia, the outcomes from the MyotonPRO should be interpreted with care; therefore, future research should focus on additional guidelines to increase the clinical interpretation and improving reproducibility.

Management of hypertonia in cerebral palsy.

PURPOSE OF REVIEW: The review provides an update on the treatment of hypertonia in cerebral palsy, including physical management, pharmacotherapy, neurosurgical, and orthopedic procedures. RECENT FINDINGS: Serial casting potentiates the effect of Botulinum neurotoxin A injections for spasticity. Deep brain stimulation, intraventricular baclofen, and ventral and dorsal rhizotomy are emerging tools for the treatment of dystonia and/or mixed tone. The long-term results of selective dorsal rhizotomy and the timing of orthopedic surgery represent recent advances in the surgical management of hypertonia. SUMMARY: Management of hypertonia in cerebral palsy targets the functional goals of the patient and caregiver. Treatment options are conceptualized as surgical or nonsurgical, focal or generalized, and reversible or irreversible. The role of pharmacologic therapies is to improve function and mitigate adverse effects. Further investigation, including clinical trials, is required to determine the role of deep brain stimulation, intraventricular baclofen, orthopedic procedures for dystonia, and rhizotomy.

Hipomagnesemia grave secundaria a inhibidores de la bomba de protones, dos casos clínicos / Severe hypomagnesaemia secondary to proton pump inhibitors: a presentation of two cases

Se describen dos casos clínicos de pacientes con hipomagnesemia grave secundaria a inhibidores de la bomba de protones. Los datos de laboratorio nos pueden ayudar a diferenciar entre la hipomagnesemia producida por pérdida intestinal de magnesio y la producida por pérdidas renales de magnesio. La hipomagnesemia asociada al uso prolongado de inhibidores de la bomba de protones es un efecto adverso que suele pasar inadvertido y que puede ocasionar manifestaciones clínicas graves, siendo conveniente realizar controles periódicos de magnesemia en pacientes que precisen de tratamiento prolongado con inhibidores de la bomba de protones, fundamentalmente en el uso concomitante de antiarrítmicos o diuréticos y en aquellos pacientes con hipocalcemia y/o hipopotasemia. La posibilidad de este y de otros efectos adversos es un motivo más para valorar periódicamente el tratamiento con inhibidores de la bomba de protones a largo plazo (AU)

Two clinical cases are presented on patients with severe hypomagnesaemia induced by proton pump inhibitors. Laboratory data can help us to differentiate between hypomagnesaemia caused by intestinal loss of magnesium and the one produced by renal magnesium losses. Hypomagnesaemia associated with a prolonged use of proton pump inhibitors is an inadvertent adverse effect that can lead to severe clinical manifestations, therefore it is advisable to perform periodic monitoring of magnesium in the blood of patients who require prolonged treatment with proton pump inhibitors, especially in the concomitant use of antiarrhythmic or diuretic drugs, and in those patients with hypocalcaemia and/or hypokalaemia. The possibility of this and other adverse effects is one more reason to periodically evaluate long-term proton pump inhibitors treatment (AU)