Cerebral palsy (CP) is the most common motor disability in children, characterized by diverse clinical manifestations and often uncertain etiology, which has spurred increasing interest in genetic diagnostics. This review synthesizes findings from various studies to enhance understanding of CP’s genetic underpinnings. The discussion is structured around five key areas: monogenic causes and copy number variants directly linked to CP, differential genetic disorders including atypical CP and mimics, ambiguous genetic influences, co-occurrence with other neurodevelopmental disorders, and polygenic risk factors. Case studies illustrate the clinical application of these genetic insights, underscoring the complexity of diagnosing CP due to the phenotypic overlap with other conditions and the potential for misdiagnosis. The review highlights the significant role of advanced genetic testing in distinguishing CP from similar neurodevelopmental disorders and assessing cases with unclear clinical presentations. Furthermore, it addresses the ongoing challenges in establishing a consensus on genetic contributors to CP, the need for comprehensive patient phenotyping, and the integration of rigorous genetic and functional studies to validate findings. This comprehensive examination of CP genetics aims to pave the way for more precise diagnostics and personalized treatment plans, urging continued research to overcome the current limitations and refine diagnostic criteria within this field.

Objective
To determine the factors influencing the life satisfaction of people with physical disabilities during the COVID-19 pandemic, considering demographics, disability-related characteristics, health behaviors, and psychosocial characteristics.
Methods
We used cross-sectional data from 301 respondents of the 2021/2022 survey of the Korean Health Cohort Study for People with Physical Disabilities. Descriptive statistics were used to analyze the research subjects’ characteristics, and chi-square tests and multiple logistic regression were used to identify the determinants of life satisfaction.
Results
Among socio demographic variables, occupation had a strong association with life satisfaction. Significant health behavior variables included daily regular meals, weight control effort, and chronic pain. All psychosocial characteristics (perceived stress, depression, suicidal ideation, cognitive function assessment, subjective health status, family satisfaction, income satisfaction) were strongly associated with life satisfaction. Results of the analysis of factors affecting life satisfaction showed that unemployment, lack of regular exercise, elevated stress, suicidal thoughts, and dissatisfaction with family contributed to increased life dissatisfaction.
Conclusion
Economic support through job creation that considers the specific characteristics of people with disabilities, and social access through community integration services that encourage participation in social activities, should be prioritized.

Objective
To evaluate muscle strength and cardiorespiratory parameters, this study uses simple tests in older adults, including those who have and have not recovered from mild coronavirus disease 2019 (COVID-19).
Methods
Eighty older adults (age≥60 years old) were divided into two groups: those without previous COVID-19 (control group, n=40) and those with recovery from mild COVID-19 (recovered group, n=40). Muscle strength was assessed using a handgrip strength test and the sit-to-stand test (STS10). Cardiorespiratory parameters were evaluated with a 1-minute sitto- stand (1-min STS) test and a 6-minute walk test (6MWT).
Results
Both groups had normal values for body mass index, blood pressure, heart rate, and pulse oxygen saturation. The recovered group showed significant differences in handgrip strength test (24.73±6.99 vs. 22.03±4.36, p=0.041) and duration for the STS10 (25.15±6.11 vs. 33.40±7.56, p<0.001) when compared to the control group. Furthermore, the recovered group had significantly decreased repetitions of a 1-min STS (31.38±4.89 vs. 21.25±3.64, p<0.001) and increased the rate of perceived exertion (RPE) (7.43±1.20 vs. 8.95±1.01, p=0.01) and leg fatigue (1.49±1.13 vs. 3.00±1.04, p=0.03) after performing a 1-min STS when compared with the control group. Moreover, the recovered group had also significantly decreased distances for the 6MWT (421.68±8.28 vs. 384.35±6.17, p<0.001) and increased the post-test RPE (7.63±1.37 vs. 12.05±1.63, p<0.001) and the post-test leg fatigue (1.71±0.88 vs. 5.28±0.91, p<0.001) compared with the control group.
Conclusion
Older adults with recovery from mild COVID-19 reported reduced muscle strength and exercise tolerance when compared with older adults without COVID-19.

Objective
Tremors are caused by contractions of reciprocally innervated muscles. The role of ultrasound in diagnosing tremors has not yet been investigated, although it appears to be promising because it can visualize muscle movements. In the present study, we report four cases of tremor (Holmes’ tremor, extremity tremor associated with palatal myoclonus, dystonic tremor, and tremor associated with dystonia), which were evaluated using ultrasound and treated with botulinum toxin injections.
Methods
The muscles of patients with tremors were examined using B- or M-mode ultrasound while they were in the supine position. Tremor was determined by involuntary muscular contraction (B-mode) or fasciculation (M-mode) from recorded sonography clips. Thereafter, tremors were measured as frequency and amplitude of specific muscles. Ultrasound-guided botulinum toxin type A injection was administered, and follow-up ultrasonography was used to assess tremors.
Results
Tremors, which manifest as a specific set of muscle contractions, were measured using ultrasonography and treated with botulinum toxin injection. Follow-up ultrasonography revealed improved tremors as seen with decreased frequency and amplitude of specific muscle after the intervention, which included medication and botulinum toxin injections.
Conclusion
Ultrasonography is an effective assessment tool for tremors, allowing further information regarding tremor characteristics with high sensitivity, playing a role in detecting specific muscles that are affected by tremors, and guiding an exact intervention with botulinum toxin.

Objective
To compare the progression of muscle fibrosis of various site and its relation between cardiac deterioration in Duchenne muscular dystrophy (DMD). In this study aimed to examine the associations between echocardiogram-based cardiac function indices and fibrosis of the abdominal and lower extremity muscles in patients with DMD to facilitate early detection of cardiac dysfunction and identify its predictors.
Methods
Twenty-one patients with DMD patients were enrolled in the study. The association between cardiac dysfunction and fibrosis of the abdominal and lower extremity muscles was determined by analyzing the echocardiography and elastography. Non-parametric Spearman rank correlation coefficients were used to examine the pairwise relationships between cardiac function and muscle elasticity.
Results
All patients were male and non-ambulant. Their mean age was 18.45±4.28 years. The strain ratios of the abdominal muscle and quadriceps muscles were significantly higher than those of the medial gastrocnemius. The strain ratio of the rectus abdominis muscle has a significant negative correlation with left ventricular ejection fraction. Cardiac function and valvular insufficiency were not significantly correlated with muscle strain ratio. According to the result of our study, the only skeletal muscle which showed significant correlation with cardiac dysfunction was degree abdominal muscle fibrosis.
Conclusion
The degree of fibrosis of respiratory muscles was also significantly associated with cardiac dysfunction; therefore, it can be used as a predictor of cardiac dysfunction in patients with DMD in clinical practice.

Objective
To identify the prevalence and factors associated with T-score discordance between the spine and hip, as well as between the paretic and non-paretic hips in hemiplegic stroke patients, this study investigated bone mineral density (BMD) patterns. Bone loss predominantly affects the paretic hip after a stroke, and typical clinical assessments using dual-energy X-ray absorptiometry (DXA) that scan the lumbar spine (LS) and a single hip may overlook an osteoporosis diagnosis. This oversight could potentially lead to suboptimal treatment for stroke patients.
Methods
This study was a multicenter retrospective analysis of 540 patients admitted for stroke rehabilitation between October 2014 and February 2022, who underwent DXA of LS and bilateral hips.
Results
The prevalence rates of concordance, low LS discordance, and low hip discordance between the LS and hips were 48.2%, 12.2%, and 39.6%, respectively. The discordance rate between bilateral hips was 17.0%. The paretic side had significantly lower total hip T-scores than the non-paretic side (p<0.001). Notably low paretic hip discordance was more prevalent during the chronic phase. DXA scans of the LS and both hips revealed a 0.7%–0.9% higher major discordance compared to LS and single hip DXA scans. The multivariate analysis revealed a significant correlation between a low paretic hip discordance and cognitive impairment (adjusted odds ratio 0.071, 95% confidence interval 0.931–1.003, p<0.05).
Conclusion
Since stroke survivors are at high risk for hip fractures, comprehensive BMD assessments, which include LS and bilateral hips, should be considered for post-stroke osteoporosis care to enhance diagnostic accuracy and timely treatment.

Citations

• Association between bone mineral density and stroke: a meta-analysis
  Peng Zhao, Huaxia Sun
  Frontiers in Neurology.2025;[Epub]     CrossRef