Search Results (59)

Background/Objectives: The paretic wrist after stroke may exhibit median nerve conduction abnormalities, but factors underlying hemiplegic–contralateral asymmetry remain uncertain. We compared electrodiagnostic and ultrasonographic wrist measures between sides and assessed predictors of side-to-side differences in distal motor latency (ΔDML) and distal sensory latency (ΔDSL). Methods: We retrospectively analyzed 85 patients with stroke. Distal motor latency (DML), distal sensory latency (DSL), wrist-to-forearm ratio (WFR), and median nerve inlet cross-sectional area (CSA) were measured bilaterally. Paired t-tests evaluated hemiplegic–contralateral differences, and Wilcoxon signed-rank tests were performed as sensitivity analyses. Multivariable linear regression with robust (HC3) standard errors modeled ΔDML as the primary outcome and ΔDSL as the secondary outcome, with wrist flexor spasticity (Modified Ashworth Scale, MAS) specified a priori as the primary explanatory variable; extended models additionally included ΔWFR. Sensitivity analyses re-specified MAS as an ordered category, and complementary linear mixed-effects models using raw bilateral latency values were fitted to assess the robustness of Δ-based modeling. Results: The hemiplegic side showed higher DML (5.51 ± 0.79 vs. 4.81 ± 0.42 ms; mean difference 0.694; p < 0.001), DSL (4.51 ± 0.88 vs. 3.66 ± 0.45 ms; mean difference 0.852; p < 0.001), WFR (1.21 ± 0.30 vs. 1.07 ± 0.16; p = 0.008), and CSA (11.16 ± 3.67 vs. 9.69 ± 2.04 mm²; p = 0.032). MAS was associated with ΔDML (β = 0.336; p < 0.001) and ΔDSL (β = 0.238; p = 0.015). ΔWFR remained significant for ΔDML (β = 1.314; p < 0.001) and ΔDSL (β = 1.371; p = 0.001), improving adjusted R² from 0.251 to 0.370 for ΔDML and from 0.142 to 0.253 for ΔDSL. Findings remained directionally consistent when MAS was modeled as an ordered category. Complementary mixed-effects models using raw bilateral latency values showed significant hemiplegic-side-by-MAS interactions for both DML (β = 0.425; 95% CI 0.275 to 0.575; p < 0.001) and DSL (β = 0.366; 95% CI 0.195 to 0.537; p < 0.001). Conclusions: In chronic stroke hemiplegia, median nerve latencies and wrist morphology may differ between sides. Wrist flexor spasticity and side-to-side increases in WFR may be independently associated with greater latency asymmetry. These interlimb latency differences should be interpreted as physiological markers of side-to-side median nerve involvement at the wrist rather than as stand-alone diagnostic criteria for carpal tunnel syndrome. Full article

Background: Central cord syndrome (CCS) is the most common incomplete spinal cord injury, producing more severe motor deficits in the upper than lower extremities and impairing sensory and autonomic function. Although transcutaneous spinal cord stimulation (tSCS) has shown benefits in motor and sensory recovery after spinal cord injury, studies have not explicitly documented whether CCS subjects were included. The aim of this study was to assess the effects of tSCS over 12 weeks on motor and sensory outcomes in a subject with CCS. Methods: A 20-year-old male with a C7 injury was evaluated at baseline and after 12 weeks with the American Spinal Cord Injury Impairment scale, Modified Ashworth Scale, Penn and Spasm Frequency Scale, 3-Meter Walk Test and 6-Minute Walk Test, 9-Hole Peg Test, Box and Block Test, hand dynamometry, and lower-limb EMG. tSCS was applied between T9 and L1 at 30 Hz. Results: At 12 weeks, upper-limb motor and sensory scores improved, while spasm frequency and hand spasticity were reduced. Manual dexterity improved bilaterally in the 9-Hole Peg and Box and Block Tests, with a 2 kg gain in right-hand grip strength. In the 6-Minute Walk Test, the distance covered increased from 224.4 m to 295.2 m, and a 1.36 s reduction in 3-Meter walking time was achieved. Conclusions: tSCS improved motor and sensory function and reduced spasticity and spasms. These findings suggest that tSCS may serve as an effective complementary intervention for motor and sensory rehabilitation in individuals with mild cervical injuries, including CCS. Full article

Background: Upper-limb spasticity involving the shoulder girdle and elbow flexors often impairs functional hand use, and although Botulinum toxin type A (BoNT-A) is a first-line therapy, severe proximal synergies may persist while higher doses risk distal weakness. Methods: We report a case of a 47-year-old woman with neurodegenerative tetraparesis and marked shoulder and elbow flexor spasticity treated with bilateral percutaneous cryoneurolysis of the lateral pectoral, thoracodorsal, and musculocutaneous nerves, followed by distal BoNT-A injections, and we conducted a scoping review following Arksey and O’Malley, Levac, and PRISMA-ScR methods to contextualize the current evidence. Results: At one-month follow-up, the patient showed a reduction in MAS from 4 to 1–2, complete resolution of pain, improved passive shoulder abduction and elevation, preserved distal dexterity, and high satisfaction with no adverse events. The scoping review identified consistent MAS and range-of-motion improvements across multiple case reports and small series involving similar proximal nerve targets. Conclusions: The combined proximal cryoneurolysis–distal BoNT-A approach appears to be a feasible dual-modulation strategy for complex upper-limb spasticity when the preservation of hand function is essential, and the emerging literature supports its further investigation. Full article

Background/Objectives: There is limited information on the interplay between passive joint motion and joint kinematics from three-dimensional gait analysis (3DGA) and its longitudinal evolution in cerebral palsy (CP). We aimed to associate clinical measurements and gait kinematics over time using a longitudinal study design. Methods: Ambulatory individuals with spastic CP, aged 4–18, who performed a minimum of two 3DGA at the Karolinska University Hospital between 2008 and 2025 were recruited. Primary outcomes were sagittal plane kinematics and maximum passive knee extension (pKE). Canonical correlation (R) with statistical parametric mapping was used to associate passive maximum knee extension with sagittal hip, knee, and ankle angles at two timepoints. Results: the 3DGA data of 31 children (age 4–17 years; mean age 10.4 +/− 2.9) with 22 bilateral (bCP, GMFCS I = 6; II = 13; III = 3) and 9 unilateral CP (uCP, GMFCS I = 8; II = 1) was included. For the whole and bCP groups, respectively, knee flexion/extension and pKE were correlated throughout stance (p < 0.001), with R between −0.47 and −0.57/−0.49 and −0.59 at T1 and between −0.46 and −0.72/−0.50 and −0.76 at T2. Hip flexion/extension and knee pKE were correlated from 17 to 62%/46–52% of the gait cycle (p < 0.001/p = 0.045) for the whole and bCP groups, respectively, with R between −0.41 and −0.57/−0.38 and −0.41 at T1 and from 15 to 64%/17 to 61% with R between −0.50 and −0.57/−0.42 and −0.57 at T2. Conclusions: Reported associations between structural knee properties and knee position during gait demonstrated progression over time, implying that a restricted range of motion may be driven by functional constraints. Combining knee contractures and their longitudinal development with 3DGA is a powerful approach for pre-intervention planning. Full article

Background: SPATA5L1-related neurodevelopmental disorder is a recently described condition characterized by psychomotor delay, sensorineural hearing loss, and variable motor dysfunction. Because only a few cases have been reported, the full phenotypic spectrum remains poorly defined. Expanding clinical characterization is crucial for improving early diagnosis and targeted management. Case Presentation: We report a 24-month-old female with compound heterozygous SPATA5L1 variants c.1918C>T (p.Arg640Ter) and c.2066G>T (p.Gly689Val). She presented with global psychomotor delay, bilateral sensorineural hearing loss, strabismus, and craniofacial dysmorphism. Brain MRI showed cortical and white matter atrophy, delayed myelination, and a thin corpus callosum. Vojta neurodevelopmental assessment demonstrated an 11-month motor delay, abnormal responses in all seven Vojta postural reactions, and persistent primitive reflexes. Early EEG recordings were without significant changes, whereas abnormalities emerged later in the clinical course. Genetic testing confirmed the variants in trans. Management and Outcomes: Early rehabilitation including reflex locomotion therapy was initiated. The persistence of primitive reflexes, central hypotonia, and pathological postural reactions provided a coherent neuromotor profile and indicated a high vulnerability to atypical motor development, and do not rule out the possibility of later evolution toward a spastic–dystonic motor pattern. These findings, combined with neuroimaging abnormalities, refined the patient’s neuromotor phenotype and guided individualized therapeutic planning. Conclusions: This case expands the clinical and neurodevelopmental spectrum associated with SPATA5L1 variants and highlights the diagnostic value of integrating genomic sequencing with structured motor assessments. Early, multidimensional evaluation may improve recognition of rare neurodevelopmental disorders and support more precise prognostication and rehabilitation strategies. Full article

Background: Cerebral palsy (CP) is a group of permanent disorders affecting movement, posture, and balance. Spasticity is the most common movement disorder in CP, and muscle weakness is its primary impairment. There is a lack of studies that have examined the effects of short-term, moderate-intensity strength training (ST) in adults with CP, whereas recommendations suggest that long-term interventions are necessary for substantial improvements in strength in the CP population. This study investigated the effects of a 5-week, moderate-intensity ST intervention, that targets various upper and lower extremity muscles, on multiple morphological characteristics (MC) and motor abilities (MA) in a sedentary 30-year-old adult male with asymmetrical bilateral spastic CP level II. Methods: Body composition, maximal knee strength, maximal squat strength, leg explosive strength, and hip mobility were assessed before and after the ST intervention. Results: Changes in body composition were modest (0.6–6.4%). Maximal knee strength increased moderately on the less spastic side (40.7–65.9%) and substantially on the more spastic side (118.5–130.6%). Hip mobility showed a similar pattern, with small to moderate improvements (11.4–30.0%), while maximal squat strength and leg explosive strength increased moderately (29.5–46.3%). Conclusions: A short-term, moderate-intensity ST intervention produced meaningful improvements in MC and MA in this subject, especially on the more spastic side. The applied ST program was feasible and potentially efficient, and the results of this single-case study support its approach and methodology in necessary future studies on larger trials in an attempt to generalize these preliminary findings. This in turn may encourage practitioners to promote increased participation in physical activity among individuals with CP, given the short-term period of adaptations. The study discusses the potential of further refinement of the existing CP-specific ST guidelines and load programming aspects. Full article

The gene SPG7 codes for the protein paraplegin, a subunit of the m-AAA protease in the inner mitochondrial membrane involved in protein quality control. SPG7 was initially identified as causing autosomal recessive hereditary spastic paraplegia (HSP), with a pure (insidiously progressive bilateral leg weakness and spasticity) and complex (with additional neurologic features including cerebellar signs and optic atrophy) forms. Now identified as one of the most common causes of HSP, SPG7-associated disease has been linked to additional neuro-ophthalmologic features, including isolated dominant optic atrophy, cerebellar eye signs (various forms of nystagmus, dysmetric saccades), progressive external ophthalmoplegia (PEO), and supranuclear vertical palsy. This review describes in detail the various neuro-ophthalmologic presentations of SPG7-associated disease, illustrating the role of mitochondrial dysfunction in the pathophysiology of these different entities. Knowledge of the different manifestations of SPG7-associated disease is crucial for both neurologists and ophthalmologists, and SPG7 should be considered in the work-up of patients presenting with entities such as optic atrophy, PEO, and cerebellar eye signs. Full article

Background and Clinical Significance: Thoracic dorsal arachnoid web (DAW) is a rare intradural extramedullary condition characterized by a thin band of arachnoid tissue compressing the dorsal spinal cord. A hallmark imaging feature is the “scalpel sign”, which refers to anterior displacement of the thoracic spinal cord with dorsal cerebrospinal fluid (CSF) accumulation, producing a sagittal profile resembling a surgical scalpel. Although highly specific for DAW, this sign may also appear in other intradural conditions such as idiopathic ventral spinal cord herniation and arachnoid cysts. The clinical presentation is typically progressive and nonspecific, including lower limb weakness, sensory changes, gait disturbances, and, less frequently, sphincter dysfunction. Diagnosis is often delayed due to the subtle nature of the lesion and limited resolution of conventional Magnetic Resonance Imaging (MRI). High-resolution Three-Dimensional Constructive Interference in Steady State (3D-CISS) sequences improve diagnostic accuracy by highlighting indirect signs such as spinal cord deformation and dorsal CSF flow obstruction. Case Presentation: We report the case of a 57-year-old woman presenting with chronic cervico-dorsalgia, bilateral lower limb weakness, paresthesia, and progressive gait instability. Neurological examination revealed spastic paraparesis and hyperreflexia. Conventional MRI was inconclusive. However, sagittal T2-weighted and 3D-CISS sequences demonstrated the scalpel sign at the T4–T5 level, with anterior cord displacement and dorsal subarachnoid space enlargement. Surgical exploration confirmed the presence of a dorsal arachnoid web, which was resected. Postoperative follow-up showed clear improvement in motor function and gait. Conclusions: DAW should be considered in cases of unexplained thoracic myelopathy or cervico-dorsalgia with neurological signs. Early recognition of the scalpel sign using advanced MRI sequences is critical for timely diagnosis and surgical planning, which may lead to significant clinical improvement. Full article

Objective: Neurosurgical interventions for medically refractory hypertonia (MRH) benefit both patients and their caregivers. Concurrent severe rotatory scoliosis and fusion constructs can make traditional microsurgical rhizotomy and navigated radiofrequency ablation (RFA) peripheral rhizotomy technically infeasible. We report the first case series of lumbosacral endoscopic ventral–dorsal rhizotomy (eVDR) in patients with MRH, and highlight this novel, minimally invasive, safe, and effective technique. Material and Methods: We retrospectively reviewed our single institution series of four patients with advanced hypertonia, gross motor function classification scale (GMFCS) 5, and severe rotatory scoliosis who underwent an eVDR using a flexible endoscope. We report demographics, operative characteristics, and outcomes. Results: Four patients underwent bilateral L1-S1 eVDR. Two patients had spastic quadriplegia and two had mixed spastic and dystonic hypertonia. Mean operative time was 225 ± 11 min and mean estimated blood loss (EBL) was 28.8 ± 26.2 mLs. Average length of stay was 2.75 days (range = 1–5 days), and average follow-up was 5.75 months (range = 3–9 months). All patients had significant decrease in bilateral lower extremity modified Ashworth Scale (mAS) scores (median decrease = 3, interquartile range [IQR] = 1; Wilcoxon rank-sum test z = −2.3, p = 0.02). The median decrease in Barry–Albright Dystonia Scale (BADS) scores for both patients with dystonia was 8 (IQR = 0). Two patients had minor perioperative events; none required additional surgery. All parents reported improvement in caregiving metrics. Conclusions: eVDR offers a safe and effective approach for tone reduction in patients with MRH and severe rotatory scoliosis and/or fusion hardware, which disallows traditional approaches. Full article

Objective: Our aim was to investigate the oral health-related quality of life (OHRQoL) and dental care experiences of adults with Cerebral Palsy (CP). Methods: In 2023, adults with CP and their caregivers from four Australian states completed questionnaires, including the Oral Health Impact Profile-14 (OHIP-14). Non-parametric tests were conducted to analyze associations between demographic and CP-related variables and OHRQoL. Results: A total of 69 respondents participated, including n = 22 adults with CP and n = 47 caregivers of adults with CP. Most adults with CP were diagnosed with a spastic motor type (46/69, 66%), with bilateral spasticity being the most common (30/46, 65%). The mean OHIP-14 score was 10.3 ± 9.3 (mean ± SD). Nearly 70% reported challenges cleaning their teeth, over 25% lacked a dentist, more than 60% found dental exams challenging, and nearly 50% required specialized dental care. In bivariate analysis, OHIP-14 was associated with daily oral care routines (p = 0.012) and “simple dental check-up” (p = 0.017). There was a statistically significant relationship between socio-economic status and scores for the handicap dimension (p = 0.040). Higher OHIP-14 scores were associated with greater levels of impairment regarding gross motor (p = 0.199), manual functioning limitations (p = 0.001), speech (p = 0.123), and communication function scales (p = 0.319). Conclusion: Adults with CP reported challenges participating in and maintaining oral health and accessing dental care, influenced by physical, functional, and socio-economic factors. These findings indicate the need for inclusive care and strategies to support access to services. Full article

Weakness, spasticity, and muscle shortening are common in children with cerebral palsy (CP), leading to deficits in gross motor, gait, and selective motor functions. While traditional assessments, such as the Gross Motor Function Measure (GMFM-66), instrumented gait analysis, and the Selective Control Assessment of the Lower Extremity (SCALE), are widely used, they are often limited by the resource-intensive nature of hospital-based evaluations. We employed cyclogram-based analysis, utilizing simple hip and knee joint kinematics to assess clinical measures, including GMFM-66, normalized gait speed, the gait deviation index (GDI), and the gait profile score (GPS). Principal component analysis was used to quantify the cyclogram shape characteristics. A total of 144 children with ambulatory spastic CP were included in the study. All the cyclogram parameters were significantly correlated with GMFM-66, gait speed, the GDI, and the sagittal plane subscore of the GPS for the hip and knee, with the swing phase area showing the strongest correlation. Regression models based on the swing phase area were used to estimate the GMFM-66 (R² = 0.301) and gait speed (R² = 0.484). The PC1/PC2 ratio showed a moderate correlation with selective motor control, as measured by the SCALE (R² = 0.320). These findings highlight the potential of hip–knee cyclogram parameters to be used as accessible digital biomarkers for evaluating motor control and gait function in children with bilateral spastic CP. Further prospective studies using wearable sensors, such as inertial measurement units, are warranted to validate and build upon these results. Full article

Upper-limb impairments after stroke significantly affect patients’ quality of life and require effective rehabilitation strategies. Rehabilitation devices play a vital role in enhancing motor recovery. This study evaluated the efficacy of the Arm Booster, a bilateral arm-training device, in improving upper-limb impairment in patients with chronic stroke. Eighteen participants were randomly assigned to two groups: a device group (n = 9), using the Arm Booster; and a conventional physiotherapy group (n = 9). Both groups performed six bilateral upper-limb exercises (32 repetitions each) three times per week for eight weeks. Participants were further classified into mild spasticity (n = 5) and moderate-to-severe spasticity (n = 4) subgroups. The primary outcome was motor impairment, assessed using the Fugl-Meyer Assessment of the Upper Extremity (FMA-UE). Secondary outcomes included spasticity, measured by the Modified Ashworth Scale (MAS), and daily functional use of the arm, assessed with the Motor Activity Log (MAL). Both groups showed significant improvements in FMA-UE scores and overall arm movement. The conventional group demonstrated additional gains in hand and wrist function and coordination. Notably, in the moderate-to-severe spasticity subgroup, the device group exhibited improvements in upper-limb movement and a trend toward reduced spasticity. These findings suggest that the Arm Booster may support motor recovery, encourage the use of the affected arm, improve movement control, and provide an efficient means for patients to exercise more frequently on their own. Full article

Introduction: Patients with cerebral palsy (CP) present mobility limitations that alter their activity and participation in social life. This study aimed to assess changes in gait kinematic measurements using the Observational Gait Scale (OGS) and preselected parameters related to the foot, knee, and hip in children with CP who received repeated BoNT-A injections within a rehabilitation treatment over a five-year follow-up period. Material and methods: This single-center retrospective observational study included 200 consecutive children with bilateral CP (GMFCS I–IV). The five-year follow-up period was analyzed. Patients received between 5 and 10 BoNT-A treatments (mean 7.6 ± 2.3), with total doses per session varying from 20 units/kg to 30 units/kg for ABOBoNT-A and from 10 units/kg to 20 units/kg for OnaBoNT-A. In most cases, multilevel injections were performed, including in the hip flexors and adductors, knee flexors, and foot plantar flexors. Results: The mean age of the patients at the beginning was 32.23 months (±6.96). The OGS score improved in 74.5% and 76.5% of the patients, and deterioration occurred in 8.5% and 7% of patients for the right and left lower extremities, respectively. The changes in the OGS typically ranged from 1 to 4 points. Significant improvements in the knee position at midstance, initial foot contact, foot contact at midstance, timing of heel rise, and knee and hip positions at terminal stance were observed. Conclusions: The data from our retrospective observational study show a significant, long-term, positive effect of integrated treatment on gait kinematics in patients with CP in a homogenous group of young children with bilateral spastic cerebral palsy. Full article

We report on a sporadic patient suffering Leigh syndrome characterized by bilateral lesions in the lenticular nuclei and spastic dystonia, intellectual disability, sensorineural deafness, hypertrophic cardiomyopathy, exercise intolerance, and retinitis pigmentosa. Complete sequencing of mitochondrial DNA revealed the heteroplasmic nucleotide change m.15635T>C affecting a highly conserved amino acid position (p.Ser297Pro) in the cytochrome b (MT-CYB) gene on a haplogroup K1c1a background, which includes a set of four non-synonymous polymorphisms also present in the same gene. Biochemical studies documented respiratory chain impairment due to complex III defect. This variant fulfils the criteria for being pathogenic and was previously reported in a sporadic case of fatal neonatal polyvisceral failure. Full article

Background: Klippel–Feil disease is a condition characterized by a defect in the spine, consisting of the fusion or non-separation of two or more vertebrae of the cervical tract. It affects 1 in every 50,000 newborns, and the pathogenesis remains unknown to date, although the role of certain genes that are involved in segmentation processes is being studied. A single case of a genetic Myosin Heavy Chain 3 (MYH3) mutation is described here. Affected patients are typically distinguished by a relatively short neck, which leads to limited mobility, a low hairline, and obesity; they may also experience various other health issues. The common occurrence of comorbidities further diminishes the quality of life of these young individuals. Methods: The following case report describes the synergistic effect of Incobotulinum toxin type A and physiotherapy in a 7-year-old patient with MYH3 mutation-related Klippel–Feil syndrome (KFS) complicated by bilateral paraplegia to improve the spasticity condition of the lower limbs. To assess improvements over time, the patient underwent rating scales to determine spasticity (Modified Ashworth Scale: MAS), the neck’s range of motion (ROM), and muscle tone by using MyotonPro^®. Specifically, measurements were taken on the day of the first medical examination (T0), the month after the injection and the startup of therapeutic exercise (T1), at three months (T2), and then once a month for a total of 6 months (T3, T4, and T5). Results: This therapeutic approach resulted in highly satisfactory outcomes for the child’s well-being, which was maintained until the sixth month and was accompanied by a complete absence of any side effects. Full article