INTRODUCTION/AIMS:People living with amyotrophic lateral sclerosis (ALS; pALS) have extensive care needs, from wheelchairs to feeding tubes to caregiving support. The financial impact of these needs on pALS and their caregivers (cALS) has not been fully explored. We aimed to explore the types of expenses for which pALS and cALS crowdfund, and the financial circumstances that lead them to resort to crowdfunding. METHODS:We randomly selected 320 ALS-related crowdfunding campaigns posted on the GoFundMe platform from 2010-2020. We conducted a summative content analysis to categorize the expenses for which campaigns requested money and descriptions of financial burden. RESULTS:We included 266 campaigns. Most campaigns were written by people who were not the pALS or cALS, such as children or coworkers (85.3%). Most campaigns fundraised for medication and treatment costs (21.4%), equipment (25.2%), accessibility needs for home (24.0%), and transportation (19.5%), and in-home caregiving services (18%). Multiple campaigns (22.9%) requested assistance with nonmedical expenses ranging from rent and utilities to personal travel and hobby goals. Many campaign writers (47.7%) described financial burden related to the pALS' diagnosis, including medical debt (4.5%) and job loss of the pALS (30.5%) and/or cALS (6.8%). DISCUSSION:Our analysis of ALS-related crowdfunding campaigns highlights the breadth of medical and nonmedical care needs and quality of life goals for which people request additional financial support throughout the disease course. These findings provide important insights for ALS care teams into the expenses of pALS.
INTRODUCTION/AIMS:High-resolution ultrasound (HRUS) may help evaluate traumatic peripheral nerve injuries (PNIs), but the sonographic features that distinguish low- from high-grade injury remain poorly defined. This study evaluated the utility of HRUS for differentiating injury severity by synthesizing data from the literature and applying these findings to an illustrative institutional patient series. METHODS:We queried for studies reporting HRUS findings in iatrogenic/traumatic PNI resulting in neurapraxia or axonotmesis. Individual participant data (IPD) were extracted and synthesized. Meta-analysis was performed via a 1-stage IPD approach to estimate associations between HRUS findings and injury grade. Findings from the review were then applied to an illustrative institutional series of five patients who underwent HRUS during initial clinical evaluation. RESULTS:The systematic review included 74 patients from 24 studies. Focal nerve enlargement, hypoechoic nerve perimeter, and disruption of fascicular echotexture were observed in 82.4%, 63.5%, and 45.9% of patients, respectively. Fascicular echotexture disruption was present in 73.8% of high-grade injuries compared to 9.4% of low-grade injuries. Meta-analysis revealed fascicular echotexture disruption was independently associated with high-grade injury (aOR = 21.6; 95% CI [4.02-116], p = 0.002). Patient series findings were similar; one patient had preserved fascicular architecture and recovered under conservative management (low-grade PNI), while four patients had disrupted fascicular echotexture and were confirmed intraoperatively to have high-grade axonotmesis. DISCUSSION:Traumatic PNIs demonstrated categorizable HRUS findings that may serve as a useful adjunct in multimodal assessment of injury severity. Disruption of fascicular echotexture appeared most associated with high-grade lesions-in-continuity, although prospective validation with standardized imaging protocols is needed.
INTRODUCTION/AIMS:Evidence for the stand-alone effect of neuromuscular electrical stimulation (NMES) on muscle mass in adults with sarcopenia or secondary muscle loss remains fragmented. This systematic review and meta-analysis aimed to quantify this effect and explore whether population, stimulation parameters, and assessment methods modified treatment effects. METHODS:Six electronic databases, including PubMed, Embase, and the Cochrane Library, were systematically searched for randomized controlled trials (RCTs) published between January 2000 and June 2025. Pooled effect sizes (standardized mean difference, SMD) were calculated using random-effects models (PROSPERO: CRD420251114043). RESULTS:Eighteen RCTs involving 676 participants yielded 19 independent effect estimates. NMES improved muscle mass compared with control conditions (SMD = 0.66, 95% CI = 0.30-1.02), with substantial heterogeneity. Leave-one-out sensitivity analyses did not alter the direction of effect. Subgroup analyses suggested differences by population and assessment method: community-dwelling older adults showed the most consistent benefit, whereas hemodialysis patients showed no clear improvement. CT/DXA-based measures yielded larger estimates than ultrasound-based regional measures or indirect methods. Meta-regression suggested a potential positive association between pulse width and effect size, whereas stimulation site and intervention duration were not clearly associated with treatment effects. DISCUSSION:Low-certainty evidence suggests that NMES may improve muscle mass in selected adults with sarcopenia or secondary muscle loss. Future trials should use standardized NMES protocols, reliable muscle-mass assessments, and clinically meaningful outcomes.
INTRODUCTION/AIMS:In amyotrophic lateral sclerosis (ALS), SIMOA-based studies show that baseline serum neurofilament light chain (NfL) predicts the revised ALS Functional Rating Scale (ALSFRS-R) decline rate and survival. The Roche Elecsys electrochemiluminescence immunoassay (ECLIA) reports values approximately six-fold lower; cross-platform comparison confirms comparable performance, but serial clinical-practice data remain limited. We assessed whether ECLIA NfL correlates with the ALSFRS-R decline rate under the sampling conditions of clinical practice, and whether GFAP or S-100B adds prognostic or disease-specific information. METHODS:We retrospectively analyzed 58 patients with medical-record-confirmed ALS at an academic center (2022-2026). Serum NfL, GFAP, and S-100B were measured on the Roche Elecsys ECLIA. The NfL-ALSFRS-R correlation was assessed within matching windows; serial NfL was examined in patients with repeat draws. RESULTS:First-per-patient NfL median was 7.06 pg/mL (IQR 4.06-17.30). NfL correlated strongly with the ALSFRS-R decline rate (Spearman r = 0.704, n = 31; r = 0.809 within 90 days, n = 17; both p < 0.0001). Fast progressors had 3.7-fold higher mean NfL than slow progressors (17.10 vs. 4.64 pg/mL). NfL showed no correlation with King's clinical stage (r = 0.00). GFAP correlated with age but not with progression rate or disease duration; S-100B showed no association with progression. DISCUSSION:Serum NfL on a commercial ECLIA platform retained its strong correlation with progression rate despite unstructured sampling, replicating SIMOA-based findings at platform-specific values. NfL tracked the rate of decline rather than the accumulated disease state; GFAP and S-100B added no prognostic or disease-specific information.
INTRODUCTION/AIMS:Exercise-associated muscle cramps (EAMC) are common in athletic populations and are frequently cited as a factor limiting performance. Despite extensive investigation, uncertainty remains regarding the risk factors associated with EAMC. Therefore, the aim of this systematic review was to identify and synthesize the available evidence on potential risk factors for EAMC. METHODS:A systematic search was conducted in MEDLINE, EMBASE, Web of Science, SPORTDiscus, and CINAHL from inception to April 2026. Longitudinal studies that followed participants over any period to assess the occurrence of EAMC were included. RESULTS:Of 14,181 records, nine studies were included (n = 11,274 participants). Across 36 meta-analyses, only three variables demonstrated statistically significant associations with EAMC. A prior history of EAMC was associated with subsequent episodes, conferring approximately 4.4-fold higher odds of EAMC occurrence (strong evidence). Higher post-race serum potassium (moderate evidence) and magnesium (limited evidence) concentrations were also observed in individuals with EAMC. Strong evidence indicated no associations between EAMC and age, body mass, or height. No other consistent results were identified across anthropometric, demographic, hydration, metabolic, performance, practice, routine, or training domains. DISCUSSION:The association with prior EAMC history supports the concept of a recurrent phenomenon. This suggests that EAMC may be driven primarily by individual history rather than by commonly investigated physiological or training-related factors. The uncertainties regarding hydration status, electrolyte balance, training load, and performance challenge traditional preventive paradigms. However, given that most findings were supported by limited or very limited evidence, further high-quality research is warranted. TRIAL REGISTRATION:PROSPERO: CRD420251061240.
INTRODUCTION/AIMS:To investigate its potential role as a marker of disease severity in facioscapulohumeral dystrophy (FSHD), this study examined the association between whole-body phase angle (PhA) and clinically assessed severity in FSHD patients. METHODS:Patients were evaluated for PhA using bioelectrical impedance analysis (BIA) and for disease severity using the FSHD clinical score. In a subgroup, physical activity level (PAL) was assessed using a questionnaire. Pearson correlations were performed in the total cohort and PAL-assessed subgroup, stratified by sex and clinical phenotype (category A and non-A) according to the Comprehensive Clinical Evaluation Form. Multivariate regression analyses were conducted adjusting for age, body mass index, and PAL. Due to the small sample, correlation was not performed in PAL-assessed non-A patients, while multivariate regression was not performed in non-A patients and PAL-assessed stratified subgroups. RESULTS:Seventy-two patients (mean age 39.94 ± 17.52 years; 27 females and 45 males; 58 category A and 14 non-A) were enrolled. The PAL-assessed subgroup comprised 38 patients (mean age 41.39 ± 14.98 years; 16 females and 22 males; 31 category A and 7 non-A). Pearson analyses revealed that PhA was inversely associated with clinical score in all groups (r -0.63 to -0.84, p 0.02 to < 0.001). Multivariate regression confirmed PhA as the sole independent predictor across all groups (β = -0.64 to -0.93, all p < 0.001). DISCUSSION:These results support the potential role of PhA as a marker of disease severity in FSHD. Longitudinal studies are warranted to determine its sensitivity for monitoring disease progression over time.
Until there is a cure for amyotrophic lateral sclerosis (ALS), it is imperative that everyone facing this devastating illness receives care to alleviate symptoms and suffering and improve quality of life. Emerging evidence has demonstrated benefits of palliative care for people with ALS, but palliative care is not yet widely available or accessed by people with ALS throughout the disease course. The Palliative Care for ALS Working Group was formed within the International Neuropalliative Care Society, consisting of interprofessional ALS and palliative care clinicians, researchers, advocates, and patients and care partner representatives who are committed to improving palliative care for people living with ALS. The group engaged in a strategic planning process to determine what is needed to advance palliative care for people with ALS over the next 3-5 years. This report outlines the core recommendations from that strategic planning process. Recommendations are divided into five sections: (1) clinician education, (2) clinical service expansion, (3) research, (4) public awareness, and (5) policy change. The aim of this report is to provide ALS and palliative care clinicians, researchers, ALS advocacy organizations, and funders with a road map of priority areas where dedicated focus could significantly advance palliative care for people facing ALS, with the goals of relieving suffering and improving quality of life. The Palliative Care for ALS Working Group is making concrete steps toward these priority areas and will continue to serve as a convening and coordinating body for this work.
INTRODUCTION/AIMS:Military service has been associated with increased risk of amyotrophic lateral sclerosis (ALS) but less is known about survival after diagnosis. We evaluated the association between military service and survival after ALS diagnosis among U.S. National ALS Registry participants. METHODS:Participants who completed the Registry's Military History Survey between 2011 and 2023 and had valid ALS diagnosis and mortality follow-up information were eligible. Military service was classified as veteran or nonveteran. Mortality was ascertained through National Death Index linkage. Kaplan-Meier methods evaluated survival distributions, and Cox proportional hazards models estimated adjusted mortality associations. RESULTS:Among 8643 participants, 1735 (20.1%) were veterans and 6908 (79.9%) were nonveterans. Veterans were older at diagnosis and reported greater smoking and alcohol use. The median observed time from ALS diagnosis to death or censoring was 3.77 years among veterans and 4.79 years among nonveterans, an approximate 1-year difference; Kaplan-Meier estimated 5-year survival was 47.1% and 57.4%, respectively. Veterans experienced significantly poorer survival than nonveterans (log-rank χ2 = 113.45, p < 0.0001). In the primary adjusted Cox model, military service remained associated with increased mortality (HR 1.25, 95% CI 1.15-1.35; p < 0.0001). Findings were consistent across sensitivity analyses accounting for disease severity, symptom onset site, and delayed Registry entry. DISCUSSION:Military service was associated with poorer survival after ALS diagnosis. Veterans had lower 5-year survival and higher mortality hazards than nonveterans, suggesting military history may be an important prognostic factor in ALS.
INTRODUCTION/AIMS:In the era of disease modifying treatments (DMT), early-onset scoliosis may occur despite administration to infants with spinal muscular atrophy (SMA). We hypothesize that postural torticollis (Ptort), defined as tilt and/or rotation of the head to the same side due to an assumed asymmetry in cervical muscle strength, could be playing a role in early-onset scoliosis (EOS). The aim of this study was to assess the frequency of Ptort and EOS in infants with SMA. METHODS:Clinical data was collected retrospectively on infants with SMA identified by newborn screening (NBS) seen at a single institution, including SMN2 copy number; presence of torticollis, scoliosis, or both; and the date at which the patient received DMT. When available, spinal x-ray results and Cobb angles were recorded. RESULTS:Twenty-three patients with 2-5 copies of SMN2 were included. Twenty (87%) were treated with DMT at a median age of 23.5 days of life (range 8-233 days). High prevalences of Ptort (52%) and EOS (30.5%) were reported. Four infants (17.4%) were noted to have Ptort preceding the development of EOS. DISCUSSION:Early identification of Ptort and vigilance for the development of scoliosis are warranted even in treated infants. Further longitudinal studies are needed to evaluate the factors that are associated with this clinical observation.
INTRODUCTION/AIMS:Though studies of Veterans with ALS have reported survival rates, scant literature reports longitudinal symptom progression in Veterans using the ALS Functional Rating Scale-revised (ALSFRS-R). In the absence of an existing national database tracking disease progression in Veterans, we sought to use local medical records to characterize a cohort of Veterans with ALS treated at our VA ALS clinic. METHODS:We examined demographic and clinical factors of 216 Veterans with ALS treated at the James J. Peters VA Medical Center (2012-2025) including race, ethnicity, region of symptom onset, and medication use as predictors of diagnostic delay, functional decline (ALS Functional Rating Scale-Revised (ALSFRS-R)), survival, and caregiver burden (Zarit Caregiver Burden Interview). Joint linear mixed modeling estimated longitudinal functional trajectories and survival simultaneously. RESULTS:The cohort was 96.8% male and 74.5% White. Median age at symptom onset was 69.3 years. Mean baseline ALSFRS-R was 30.7. Median survival from symptom onset was 4.4 years. Median age at symptom onset was younger for Black (60.8 years) and Hispanic (62.5 years) Veterans than Whites (70.1 years). Blacks had faster initial ALSFRS-R progression than Whites (mean 1.9 vs. 0.9 points per month). Blacks and Hispanics had 2.8-fold and 2.3-fold higher adjusted mortality hazard than Whites, respectively. Forty-nine percent of caregivers reported high caregiver burden at first assessment, rising to 66.2% at subsequent assessments. DISCUSSION:Racial and ethnic disparities in ALS progression and survival are pronounced in this single-site Veteran cohort. Standardized ALS-specific data collection across the VHA is needed to enable system-wide analyses.
INTRODUCTION/AIMS:Percutaneous endoscopic gastrostomy (PEG) is widely used to manage dysphagia in patients with amyotrophic lateral sclerosis (ALS). However, some patients experience rapid clinical deterioration following the procedure. Prognostic factors specific to outcomes following PEG remain insufficiently defined. METHODS:This two-center retrospective cohort study included 117 patients with ALS who underwent PEG prior to tracheostomy between April 2011 and June 2023. Cox proportional hazards modeling was used to identify independent prognostic factors following PEG. Explanatory variables included age, sex, onset site, percent of normal forced vital capacity (%FVC), disease duration from onset to PEG, and body mass index. Optimal cutoff values for continuous variables were determined using time-dependent receiver operating characteristic analyses. RESULTS:Among six examined clinical variables, four were independently associated with worse outcomes after PEG placement as follows: male sex, spinal onset, lower %FVC at the time of PEG, and shorter duration from onset to PEG. Cutoff values were determined as %FVC < 63% and disease duration < 12 months. Log-rank analyses confirmed significantly shorter post-PEG survival in patients meeting these criteria. DISCUSSION:Poorer respiratory function and shorter duration from disease onset to PEG were strongly associated with worse prognosis after PEG. Male sex emerged as an independent prognostic factor, suggesting potential biological differences in disease progression after gastrostomy. These findings underscore the importance of comprehensive clinical evaluation when considering PEG in patients with ALS.
INTRODUCTION/AIMS:Leprosy-associated neuropathy and vasculitic neuropathy (VN) share overlapping clinical features, making differentiation challenging in nonendemic regions. High-resolution ultrasound may aid in distinguishing these conditions, but comparative data are limited. This pilot study aimed to characterize and compare ultrasound findings in biopsy-confirmed leprosy-associated neuropathy and VN, and to identify distinctive sonographic features for early differential diagnosis. METHODS:We retrospectively included 12 patients with biopsy-confirmed neuropathy (3 leprosy-associated, 6 systemic VN, 3 nonsystemic VN) from a prospectively maintained database at Peking Union Medical College Hospital (2020-2025). All had undergone standardized clinical assessments, nerve conduction studies, and high-resolution ultrasound of median, ulnar, tibial, fibular, and sural nerves, cervical roots, and brachial plexus. Cross-sectional areas (CSA) were measured at predetermined sites. Power Doppler assessed intraneural vascularization in enlarged segments. RESULTS:In leprosy patients, nerve enlargement predominated proximal to entrapment sites (carpal tunnel, cubital tunnel/above-elbow, fibular head), with moderate-to-marked CSA increases. Intraneural power Doppler signals were detected in all enlarged segments (12/12, 100%). In VN patients, enlargement was mild-to-moderate, predominantly in nonentrapment regions (mid-forearm, upper arm), with less frequent vascularization (SVN: 25.0%; NSVN: 83.3%). Brachial plexus/cervical root enlargement was uncommon in both groups. Lower limb nerve enlargement occurred exclusively in leprosy. DISCUSSION:Distinct ultrasound patterns may help distinguish leprosy-associated neuropathy from VN. Marked enlargement near entrapment sites with increased vascularization was more commonly observed in leprosy, while mild nonentrapment enlargement was more frequent in VN.
INTRODUCTION/AIMS:Various signs of selective muscle involvement have been reported in amyotrophic lateral sclerosis (ALS) but such studies for the lower limbs are scarce. We formed a preliminary impression that hip abductors (Ab) are often preserved in ALS. We named this phenomenon "abductor sparing", and this study aimed to verify our findings. METHODS:Patients with a confirmed diagnosis of ALS (ALS group) and patients with pyramidal weakness other than ALS (pyramidal group) were retrospectively identified. Medical Research Council (MRC) scores of 10 muscle groups in the lower limbs were evaluated. The proportion of patients with weakness (MRC score 4 or less) was compared between different groups. RESULTS:We enrolled 61 patients in the ALS group and 27 patients in the pyramidal group. The most frequently weak muscle groups in both groups were big toe extensors and hip flexors. Ab was the third (70%) in the pyramidal group, whereas it was weak only in 30% of patients with ALS. This held true also for patients with ALS with shorter duration or less severity. "The lower limb flexor pattern", i.e., flexor muscles being weaker than extensor muscles, was observed both in ALS and pyramidal groups. DISCUSSION:Patients with ALS generally showed similar muscle weakness patterns to those with pyramidal syndrome, except for abductor sparing. The reason for the latter phenomenon is unclear. Abductor sparing may be useful for early diagnosis of ALS, although larger studies with blinded evaluators are needed to confirm these findings.
BACKGROUND:Assistive technology offers an important means of compensating for lost upper extremity function in adults with progressive neuromuscular diseases (NMD), enabling participation in daily activities, supporting independence, and promoting quality of life. However, the range of available technologies and the evidence supporting their use have not been comprehensively summarized. AIM:The aim of this scoping review was to identify and characterize upper extremity assistive technologies tested in adults with NMD and to summarize the current evidence regarding their functional applications and clinical outcomes. MATERIALS AND METHODS:Electronic searches for published and unpublished literature were conducted using MEDLINE, Embase.com, Web of Science, Cochrane Central, and IEEE Xplore. The search strategy incorporated controlled vocabulary and free-text synonyms for the concepts of upper extremity, rehabilitation, selected progressive neurodegenerative diseases, and assistive equipment. Following title/abstract and full-text screening, studies evaluating assistive devices tested on adults with NMD during functional task performance were included. RESULTS:After screening 2289 articles, 27 studies met the inclusion criteria. The studies collectively demonstrate the potential benefits and diverse range of assistive devices available to support upper extremity function. These devices ranged from low-tech solutions, such as static mobile arm supports and fabricated splints, to high-tech devices, including dynamic mobile arm supports, robotic systems, exoskeletons, and brain-computer interface systems. However, most studies were feasibility or case studies that primarily demonstrated proof of concept, with limited evidence regarding long-term effectiveness, functional outcomes, or quality of life. DISCUSSION:The findings illustrate the rapidly evolving landscape of upper extremity assistive devices for adults with NMD and their potential to improve functional performance, while highlighting the need for prospective studies that assess meaningful improvements in function, participation, and quality of life. CONCLUSIONS:As advances in disease-modifying therapies extend survival and preserve function for individuals with NMD, interdisciplinary collaboration among engineers, clinicians, therapists, individuals with NMD, caregivers, and regulators will be essential to develop, evaluate, and implement assistive technologies that meet users' evolving needs.
AIMS:Facioscapulohumeral muscular dystrophy (FSHD) is a genetic progressive muscle disorder often presenting with facial weakness. However, imaging studies specifically evaluating facial muscle involvement and its relationship with clinical severity remain limited. This preliminary study explored magnetic resonance imaging (MRI) and ultrasound (US) assessment of facial muscle involvement and correlations with clinical severity. METHODS:This single-center prospective study enrolled 12 genetically confirmed FSHD1 patients (mean age 57.8 years). Clinical evaluation included the FSHD score, Comprehensive Clinical Evaluation Form (CCEF), and Facial Weakness Score (FWS). Muscle thickness of the orbicularis oris (OOr) and zygomaticus major (ZMj) was measured on both MRI and US, while MRI was additionally used for qualitative assessment of muscle bulk. Inter-rater reliability was assessed for imaging measurements. RESULTS:MRI and US showed comparable facial muscle thickness, with mean ZMj thickness of 2.34 ± 0.75 mm and 2.12 ± 0.55 mm, and OOr thickness of 2.28 ± 0.70 mm and 2.20 ± 0.67 mm, respectively. Inter-rater reliability for MRI was high (ICC = 0.84), and reduced ZMj thickness showed moderate to strong correlation with greater disease severity (ρ up to 0.87, p < 0.001) and impaired facial gestures (ρ = 0.50-0.77, p < 0.05). DISCUSSION:Despite the small sample size, MRI, and US assessment of facial muscles correlated with clinical severity and functional outcomes in FSHD, supporting their use as complementary tools. Longitudinal studies are required to establish imaging's role in monitoring changes over time.
INTRODUCTION/AIMS:Sensory cortical hyperexcitability, reflected by enlarged median nerve somatosensory evoked potentials (SEPs), has been reported in amyotrophic lateral sclerosis (ALS) and is associated with shorter survival. This study investigated whether similar changes involve the ulnar nerve representation within the hand area of the primary somatosensory cortex and examined their relationship with survival. METHODS:Ninety-nine patients with sporadic ALS and 42 healthy controls were retrospectively studied. Sensory nerve action potentials (SNAPs) and SEPs were recorded following median and ulnar nerve stimulation. SNAP amplitudes and the peak-to-peak amplitudes between N20 and P25 (N20p-P25p) were compared between groups. Patients were followed until death or tracheostomy, and associations between SEP amplitudes and survival were analyzed using Kaplan-Meier and Cox proportional hazards analyses. RESULTS:SNAP amplitudes did not differ between patients and controls. In contrast, patients with ALS showed larger N20p-P25p amplitudes for both median and ulnar nerve SEPs. N20p-P25p amplitudes were positively correlated between the two nerves, and the ulnar-to-median amplitude ratio did not differ from controls. Patients with ulnar N20p-P25p ≥ 4.89 μV had significantly shorter survival than those with lower amplitude (log-rank test, p = 0.035). Multivariate Cox analysis identified increased N20p-P25p amplitude as an independent predictor of shorter survival for both nerves. DISCUSSION:Sensory cortical hyperexcitability in ALS extends beyond the median nerve to the ulnar nerve hand area of the somatosensory cortex. Its association with survival supports the notion that sensory cortical dysfunction represents a fundamental pathophysiological feature of ALS and a potential electrophysiological prognostic marker.
INTRODUCTION/AIMS:Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease accompanied by bulbar dysfunction, in which tongue atrophy contributes to dysarthria and dysphagia. Conventional tongue assessments rely on inspection, palpation, or electrophysiological testing but are limited by subjectivity and invasiveness. A rapid, objective, and repeatable imaging-based method for evaluating tongue size would be valuable. We quantified tongue atrophy in ALS using a standardized protocol for transoral tongue ultrasonography (TOTU) and assessed discrimination. METHODS:This retrospective, cross-sectional study included 15 patients with ALS and 15 controls who underwent TOTU. Using standardized mid-sagittal images, tongue cross-sectional area (cm2) and tongue thickness (mm) were measured three times per subject and averaged. Associations with age, body mass index (BMI), disease duration, and ALS Functional Rating Scale-Revised (ALSFRS-R) scores were explored. Discrimination was evaluated using receiver operating characteristic (ROC) analyses. RESULTS:Both tongue cross-sectional area (6.26 ± 1.37 vs. 9.44 ± 1.02 cm2) and tongue thickness (31.47 ± 3.0 vs. 39.44 ± 1.39 mm) were significantly lower in the ALS group than in controls (both p < 0.001). These indices showed no significant associations with age, BMI, disease duration, or ALSFRS-R scores. ROC analyses showed high discriminative ability, with an area under the curve of 0.982 for tongue cross-sectional area and 1.000 for tongue thickness. DISCUSSION:Standardized TOTU enables rapid, quantitative, noninvasive assessment of tongue size and reliably detects tongue atrophy in ALS, supporting bedside evaluation of bulbar involvement.
The advent of novel disease-modifying therapeutics for spinal muscular atrophy (SMA) increased life expectancy with better motor function and potentially better quality of life. While the benefits of these therapies are well established, most trials were conducted only in high-income and middle-income countries, and there is a lack of global representation. Furthermore, although these medications are now approved in over 50 countries worldwide, they remain unavailable to many who need them, potentially widening the gap in clinical care. Moreover, with these therapies, the standard SMA phenotype is changing, and the percentage of adult patients in the SMA cohort is increasing rapidly, requiring adjustments and modifications to the traditional therapeutic approach to SMA. It is important to identify potential sources of health inequalities to address them. Clinical opportunities for access include expanding screening availability by employing novel, affordable technologies, improving continuity of care through patient registries, and ensuring transitions of care for long-term monitoring of adult patients with the disease. New technologies also offer the possibility of expanding the scope of telehealth to ensure access and of using artificial intelligence for rapid screening and disease monitoring. Regulatory changes and drug policies to reduce medication costs are also critical. Additional research on SMA population disparities and clinical trials that recruit from diverse populations and across the globe will help bridge the gap. Ensuring equitable healthcare access to disease screening and lifesaving medications is not just a recommendation but a call to action that can promote health for all.
