Gait Disturbance Research Articles (Page 1)

Krabbe disease (KD), also known as globoid cell leukodystrophy, is a rare autosomal recessive neurodegenerative disorder caused by pathogenic variants in the GALC gene. While infantile-onset KD is prevalent globally, adult-onset KD is frequently presented in East Asian populations and typically manifests with progressive spastic paraparesis. We herein report a unique case of a 28-years-old male who initially presented with generalized tonic-clonic seizures, rather than the classic gait disturbance. Brain MRI revealed symmetrical white matter lesions and early cortical involvement. Genetic testing revealed compound heterozygous GALC variants (c.908C > T/p.Ser303Phe and c.136G > T/p.Asp46Tyr). Subsequent enzyme assays confirmed low galactocerebrosidase activity. This case broadens the clinical spectrum of adult-onset KD and highlights the importance of considering KD in the differential diagnosis of adult epilepsy with progressive neurological symptoms.

Background Parkinson’s disease (PD) is a neurodegenerative disorder characterized by progressive motor deficits and gait disturbances. While medication offers symptomatic relief, long-term complications and gradual functional decline remain significant challenges. Robot-assisted training provides intensive, task-specific motor rehabilitation and has shown promise in improving gait for PD patients. Soft wearable robot suits, designed with lightweight, flexible materials, offer enhanced comfort, adaptability, and biomechanical support compared to traditional robots. However, there is limited evidence regarding the effectiveness of hip extensor assistance with soft wearable robots for gait improvement in PD. Methods This is a prospective, single-center, single-blind, parallel-group study, and will recruit 34 PD patients. The participants will be assigned to either a robot or control group. Both groups will receive identical rehabilitation interventions, each session comprising 20-min of strength training, 5-min rest, and 20-min of treadmill walking. The rehabilitation program will be applied identically to all participants. The key difference between the groups will be whether participants wear the soft wearable robot suit during treadmill walking session. The intervention will be conducted 2 times per week, a total of 12 sessions for 6 weeks. The H-Medi (HUROTICS, Inc.), a cable-driven soft wearable robot suit will be utilized for the intervention and hip extensor assistance will be applied. For outcome measures, the following assessments will be performed at baseline (T0) and post-intervention (T1): Gait speed, Timed-Up and Go test, Short Physical Performance Battery, Berg Balance Scale, Movement Disorder Society-Unified Parkinson’s Disease Rating Scale, Freezing of Gait Questionnaire, gait parameters, muscle strength and endurance, quadriceps muscle thickness, body composition, cognition, and depression. The primary outcome will be the difference of gait speed from T0 to T1. The secondary outcomes will be the differences of other measures. Discussion This study will be the first to assess hip extensor assistance provided by a soft wearable robot suit as a targeted therapy for gait impairment in PD. Results are expected to clarify device usability, safety, and impact on gait. By focusing on hip extension, the findings may help advance personalized gait rehabilitation and inform the design and clinical adoption of future wearable robotic devices for PD. Clinical trial registration KCT0010793.

The relationship between femoral deformity and gait deviation is complex. Femoral anteversion can be assessed using the trochanter prominence angle test or by imaging techniques. Hip rotation during gait can be determined using conventional 3D gait analysis methods including palpation of femoral epicondyles or by using functional calibration. This study re-evaluates the indications for femoral osteotomies in this context. Hip rotation was analysed using predictive and functional methods in 80 patients who were referred for gait analysis due to rotational gait issues. Femoral anteversion was determined both manually and via MRI. In severe cases of femoral malalignment, the trochanter prominence angle test systematically underestimates the deformity by up to 15° compared to MRI results. Hip rotation, as measured by functional methods, also underestimates the outcome obtained by conventional methods, by up to 5°. Regardless of the method used, significant variability in hip rotation is observed during gait when the femoral deformation is moderate (anteversion between 0° and 30°). More severe deformities are not fully compensated for during gait. In cases of severe femoral malalignment, the functional change after osteotomy does not match the amount of derotation. Furthermore, both the trochanter prominence angle test and hip rotation during gait, as monitored via functional methods, underestimate the problem in the transverse plane.

The pathophysiology of idiopathic normal pressure hydrocephalus (iNPH) remains poorly understood. While it is commonly accepted that iNPH has an insidious onset, little is known about its preclinical and early stages and its development over time. To gain more insight into how iNPH becomes manifest clinically and radiologically, and how its major clinical symptoms evolve in non-shunted patients. For this critical review a literature search was performed using specific search terms concerning the evolution of iNPH. Manuscripts were categorized according to their content providing information on different domains including the early manifestation of clinical features, the evolution of the three major clinical symptoms, and the development of radiological findings. Gait disturbance in general, is the earliest clinical symptom of iNPH. There is a gradual but variable decline within the first years resulting in a change of phenotype. Cognitive impairment varies widely depending on co-morbidities. Urinary dysfunction evolves from urinary urgency to incontinence. Radiological features of iNPH such as ventricular enlargement, enlarged subarachnoid spaces, and flattening of sulci at the parasagittal high convexity are present in the preclinical stage of iNPH, but the sequence of their appearance remains unclear as well as the impact of white matter lesions. The evolution of iNPH shows remarkable heterogeneity. While there is a need to define distinct clinical stages, it is also important to better identify the preclinical stages of iNPH. Assessment of treatment outcomes needs to consider the stage of the disease at the time of intervention.

Enlarged perivascular spaces are associated with worse gait velocity and recovery in individuals with a small ischemic hemisphere stroke: A cross-sectional study.

Clinical integration of markerless motion capture: A multicentre study of gait in knee osteoarthritis.

Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease. While PD is typically characterized by motor symptoms such as bradykinesia, tremor, rigidity, postural instability, and gait disturbances, patients frequently present numerous non-motor symptoms, including gastrointestinal manifestations. These gastrointestinal symptoms may be fundamentally related to alpha-synuclein pathology, and dopaminergic treatments may further contribute to reduced gastrointestinal motility. Gastrointestinal symptoms can occur before the diagnosis of PD and at any stage during the disease course, affecting the gastrointestinal tract from the oral cavity to the anus. If left untreated, gastrointestinal problems can impair medication absorption, leading to motor fluctuations and potentially causing complications such as malnutrition and aspiration pneumonia, which may be life-threatening. Therefore, clinicians should not overlook gastrointestinal symptoms in PD patients. Gastrointestinal symptoms in PD can manifest diversely throughout the entire disease course, requiring healthcare providers to recognize these symptoms and provide individualized management. Since current treatments for PD-related gastrointestinal symptoms are largely derived from data in non-PD patients, future research and clinical guideline development in this field are required for establishing evidence-based care protocols.

Optimal Application Indices for Shunt Surgery for Idiopathic Normal Pressure Hydrocephalus with an Evans Index Below 0.3.

Foot drop, a form of paralysis affecting ankle and foot control, impairs walking and increases the risk of falls. Effective rehabilitation requires monitoring gait to guide personalized interventions. This study presents a proof-of-concept smart foot–ankle brace integrating low-cost sensors, including gyroscopes, accelerometers, and a Fiber Bragg Grating (FBG) array, with an Arduino-based processing platform. The system captures, in real time, the key locomotion parameters, namely, angular rotation, acceleration, and sole deformation. Experiments using a 3D-printed insole demonstrated that the device detects foot-drop-related gait deviations, with toe acceleration approximately twice that of normal walking. It also precisely detects foot deformation through FBG sensing. These results demonstrate the feasibility of the proposed system for monitoring gait abnormalities. Unlike commercial gait analysis devices, this work focuses on proof-of-concept development, providing a foundation for future improvements, including wireless integration, AI-based gait classification, and mobile application support for home-based or tele-rehabilitation applications.

Hip joint mechanics during swing limb advancement with bone-anchored limb use.

Vascular cognitive impairment and dementia (VCID) is common in the ageing population. VCID is often the cause of alterations in vascular perfusion or function, reflected for example in strokes, haemorrhages, and small vessel disease. The risk of developing VCID is accelerated by the presence of cardiovascular risk factors like hypertension, hyperlipidemia, diabetes mellitus, smoking, and atrial fibrillation. Symptoms of VCID vary depending on the brain regions affected and the extent of blood flow disruption. Common early signs include slowed thinking, difficulty planning or organizing, trouble concentrating, confusion, and changes in mood or behaviour. Motor function disturbances in gait and balance are increasingly recognized as early features, and functional consequences may well be aggravated in the presence of multi-domain impairment in motor function as well as cognition. While some patients experience sudden onset of these symptoms following a cerebrovascular event, many experience a gradual progression of symptoms due to cerebral small vessel damage. In the absence of a cure for VCID, emphasis on clinical treatment is on timely preventive interventions as well as supportive care and management. The collection of selected studies on VCID published in Age and Ageing provides an overview of the impact of modifiable risk factors on motor function impairment as well as cognitive symptoms, and points towards developments in preventative risk factor management and recent combined cognitive-motor interventions aimed at maintaining cognitive and functional ability.

A retrospective case series of 4 patients with spinal ochronosis. To evaluate the clinical, radiological, and surgical outcomes in patients with spinal ochronosis undergoing surgical intervention. Ochronosis, resulting from alkaptonuria, leads to homogentisic acid deposition in connective tissues, affecting the spine early. Due to its rarity, limited literature addresses the clinical, radiological, and surgical aspects of spinal ochronosis. We reviewed four cases of spinal ochronosis where patients underwent surgery for symptoms such as pain, paresthesia, and myelopathy. Radiological findings, intraoperative observations, and postoperative outcomes were analysed. The iOS 'Measure' app was used to quantify angles intraoperatively. Patients, aged 45-56, presented with leg pain, paresthesia, and gait disturbances. Radiographs revealed disc degeneration, spinal stenosis, and sagittal imbalance. Surgical interventions included decompression, fusion, and en bloc resection of calcified ligamentum flavum. Dural tears occurred in 2 cases but were successfully repaired. All patients experienced significant symptom relief, though residual sagittal imbalance persisted in some. Spinal ochronosis presents significant surgical challenges due to tissue fragility, adhesions. Surgical intervention can provide symptom relief, however, complete correction of deformities may not always be feasible. Further research is required to optimize treatment strategies for this rare condition.

Cognitive decline and gait disturbance are often observed simultaneously in patients with small vessel disease (SVD), also known as motoric cognitive dysfunction. However, it remains unknown whether cholinergic system disruption contributes to motoric cognitive dysfunction. In this cross-sectional, single-center study conducted in the Netherlands, we included 213 patients with SVD between 2020 and 2021, all of whom had multimodal magnetic resonance imaging scans, gait assessments using the 6-meter walk test, and cognitive test battery data available. Cholinergic cortical (through external capsule and cingulum) and thalamic projections (pedunculopontine nucleus to thalamus) were reconstructed using probabilistic tractography on diffusion images, followed by the quantification of the disruption in these tracts with diffusion metrics derived from neurite orientation dispersion and density imaging model. Conventional magnetic resonance imaging markers for SVD were assessed.Covariates, including neurite orientation dispersion and density imaging metrics in the white matter control mask and SVD markers, were adjusted in linear regression. A total of 213 patients with SVD were included, with a mean (SD) age of 74.6 (6.8) years, of whom 96 (45.1%) were women. Conventional SVD markers are differentially associated with disrupted cholinergic pathways, with white matter hyperintensities (WMH) being the main contributor (R² highest for neurite density index, 0.38). WMH within the external capsule cholinergic pathway is more strongly associated with the neurite orientation dispersion and density imaging metrics in this tract compared with total WMH volume or WMH outside cholinergic projections. In contrast, WMH within the cingulum pathway contributes less to neurite orientation dispersion and density imaging variability (R²=0.18-0.33 versus 0.22-0.38). Disruption in cholinergic cortical pathways was associated with concurrent decline in performance of cognition and gait (external capsule pathway cerebrospinal fluid isotropic volume fraction, β=-10.77; P=0.004; cingulum pathway cerebrospinal fluid isotropic volume fraction, β=-13.38; P=0.011), adjusted for the covariates. Taken together, our findings suggest that disruption in cholinergic cortical pathways attributable to SVD, rather than cholinergic thalamic pathways, contributes to the motoric cognitive dysfunction in patients with SVD.

Staged bilateral magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy is FDA approved to treat essential tremor (ET), but patient-reported outcomes and satisfaction data are limited. We present tremor outcomes, patient-reported adverse effects, and satisfaction in a cohort of 30 treated patients. Patients underwent staged bilateral MRgFUS thalamotomy from 2020 to 2024, with minimum three-months of follow-up. Upper extremity tremor was assessed using the Clinical Rating Scale for Tremor Part B. Patients were asked directly about speech changes, sensory changes, gait disturbance, dysphagia, taste changes, ataxia, weakness, and satisfaction with bilateral treatment. Thirty patients underwent staged bilateral MRgFUS, of which 25 (83%) have 6 months, 20 (67%) have 12 months, and 10 (33%) have 24+ months of follow-up. Tremor severity at baseline was similar bilaterally and was significantly improved bilaterally by treatment (P < 0.001); however, not as greatly on the second treated side. Twenty-six patients (87%) reported at least one new mild or moderate adverse effect after bilateral treatment; no severe adverse effects were reported. Notably, at 12 months 55% reported persistent speech changes, 30% reported persistent sensory changes, and 20% reported persistent gait disturbance. At 3 and 6 months of follow-up, more than 80% of patients reported that they would repeat second-side treatment in retrospect, but this declined to 67% at 12 months, and 60% at 24+ months. Significant bilateral tremor control was achieved after bilateral MRgFUS thalamotomy for ET, but rates of some adverse effects were higher than previously reported.

The second most prevailing neurodegenerative disorder is Parkinson’s disease (PD) that have been affected nearly 6 million of people in the world. The availability of emblematic treatment has the ability to increase the survivability of disease but there is no curing treatment available. The PD predominance and the disability life years are endured to increase steadily that may lead to a viable burden on patients and their families. Dopaminergic medications can typically slow down the PD progression whileused during the earlier stages. Theses treatment is frequently become less efficiency with the disease progress. Diagnosis of PD at early state is essential for immediate interventions which assist the patients to remain self-sufficient with long time period probably. Disturbances of balance, gait and posture are a hallmark of parkinsonian syndromes. Specifically, to uncover PD at an early stage, several indicators have been considered by testing the person by Neuro-radiological tools, cognitive tests, freezing of gait questionnaire and Movement Disorders Society- Unified Parkinson's Disease Rating Scale (MDSUPDRS). In this paper,the proposed fuzzy logic approach for prediction of PD and their severity classification withLong Short Term Memory (LSTM) is utilized for overcoming the curse dimensionality. The dataset involved consists of both numerical and categorical data which performs classification of PD patient at early stage by categorical data. Based on LSTM, the fuzzy rule get generated and the fuzzy logic computation technique is depend upon degree of truth. Using fuzzy logic the accurate prediction of PD at early stage and its level of severity is identified based on fuzzy rule with LSTM with accuracy of 96.5%.

Arnold-Chiari 1 malformation is a congenital anomaly of the craniovertebral junction, often presenting with diverse neurological, endocrine, and musculoskeletal manifestations. Growth and pubertal delay may coexist with neurological deficits, making early recognition essential. Here we report a 17-year-old male, 3rd issue of non-consanguineous parents, admitted to BMU with growth failure for 6-8 years and progressive difficulty in walking along with gait abnormality for 4 years. He experienced chronic occipital headaches, blurring of vision, and occasional dizziness. Pubertal delay was evident by underdeveloped secondary sexual characteristics, notably scanty facial hair and an underpitched voice. Examination reveals short stature (H-147 cm, SDS -2.6) and delayed puberty (Tanner-P2, left testis 10 ml, right undescended testis palpable in the inguinal region). Neurological signs included dysarthria, tongue fasciculation with wasting, exaggerated deep tendon reflex, plantar extensor, positive ankle clonus, wide-based gait, and other cerebellar dysfunctions. Biochemically, GH deficiency was found. MRI of the spine showed dysplastic occipital condyle with foramen magnum stenosis, cervico-medullary compression indicating Arnold-Chiari 1 malformation. This case illustrates an unusual presentation of chairi-1 malformation with growth retardation and delayed puberty, emphasizing the importance of a multidisciplinary approach for timely diagnosis and management. [J Assoc Clin Endocrinol Diabetol Bangladesh, 2025;4(Suppl 1): S67]

Whole genome sequencing (WGS) comprehensively detects DNA sequence variation, enabling assessment of genetic disorders. The primary aim of this study was to investigate the diagnostic utility of WGS for pediatric musculoskeletal disorders by comparing it with whole exome sequencing (WES), which is more widely used but not as comprehensive in its coverage of the genome. This multi-center cohort study consists of WGS and WES analysis for 36 pediatric patients with musculoskeletal disorders of unknown etiology and, where available, their parents and siblings. WGS and WES were performed on DNA extracted from saliva samples. Secondary analysis of sequence data and tertiary analysis with interpretation of sequence variants were performed using the Illumina DRAGEN and Emedgene platforms, respectively. We evaluated 36 patients, and the median age was 11 years. The most common phenotypes included thoracolumbar scoliosis and gait disturbance. The median number of candidate variants per patient identified by WES and WGS were 57.5 and 90.5, respectively. 38 pathogenic or likely pathogenic variants were identified by WGS, providing a potentially diagnostic (tier-1) candidate for 22 of 36 (61.1%) patients. 12 of the 38 tier-1 variants (31.6%) were identified only by WGS. Of these 12 variants missed by WES, two candidates had variants that are likely to solve the respective case after undergoing manual curation. WGS resulted in a larger number of variants predicted as pathogenic/likely pathogenic in patients with musculoskeletal phenotypes, including variants potentially capable of solving their respective cases. WGS showed particular advantage in detecting CNVs. This study demonstrates that WGS is a promising method for improving our understanding of musculoskeletal disorders marked by genetic and phenotypic heterogeneity.Supplementary InformationThe online version contains supplementary material available at 10.1038/s41598-025-21421-8.

People with Parkinson's disease (PD) and rapid eye movement (REM) sleep without atonia (RSWA) often have more severe gait disturbances compared to PD without RSWA. The association between the presence and expression of RSWA and the rate of progression of gait impairment in PD is unknown. This study examined the changes in spatiotemporal gait metrics over 3 years in people with mild-to-moderate PD (median 1.5 years since diagnosis at baseline) with (PD+RSWA, n = 16) and without RSWA (PD-RSWA, n = 14), and matched controls (n = 16). Steady-state gait metrics were obtained using a pressure-sensitive walkway at baseline and 3-year follow-up. RSWA scores were measured from electromyographic recordings during video-based polysomnography at baseline. Linear mixed models tested for the effects of visit, group, side (less vs. more affected), and their interactions. In people with PD, Spearman's correlations examined the relationship between baseline RSWA scores and the change in gait metrics. Stride velocity variability was larger in PD+RSWA, compared to PD-RSWA and controls. Spatial and temporal measures of gait significantly worsened in both PD groups over 3 years. The PD+RSWA group showed a significantly larger decrement in step length (p < 0.05; mean = 7.9%) compared to PD-RSWA (2.6%) and controls (2.3%). Variability measures did not change significantly. In PD, the change in stride length correlated with chin RSWA scores at baseline. RWSA in early PD may be a harbinger of a more rapid progression in gait impairment, characterized primarily by a shortening of steps.

Diffuse Leptomeningeal Glioneuronal Tumor (DLGNT) is a rare neoplasm in children with variable clinical and radiological features, often leading to diagnostic delays.We present the case of a 3-year-old boy with tonic-clonic seizures and gait disturbance. Brain and spine MRI revealed widespread, non-enhancing, cystic lesions along the cerebral sulci and subarachnoid space. Biopsy confirmed the diagnosis of DLGNT. This case demonstrates a unique radiological presentation of DLGNT as diffuse, non-enhancing cystic lesions. Recognizing this unique imaging pattern is crucial for early diagnosis, especially in pediatric patients.

Multidimensional abnormal gait analysis and biomarker identification for patients with spinocerebellar ataxia type 3 using an Azure Kinect-based motion capture system.