Pelizaeus-Merzbacher disease (PMD) is a X-linked recessive disorder with dysmyelination in central nervous system caused by proteolipid protein 1 ( PLP1 ) gene mutation. We report a case of PMD with PLP1 exon 1 duplication, previously misdiagnosed as cerebral palsy (CP). A 25-year-old male previously diagnosed as CP visited our clinic with progressive weakness and spasticity of bilateral lower limbs. Next generation sequencing revealed hemizygous duplication of exon 1 in PLP1 . Additionally, multiplex ligation-dependent probe amplification assay of the patient's mother showed the same mutation, which could finally confirm the diagnosis as PMD. This patient received comprehensive rehabilitation program, and helped the patient to achieve functional improvement. Proper diagnosis and therapeutic plan will be needed for the patients with PMD, before diagnosing CP rashly.

We present a case of juvenile parkinsonism with PARK2 gene mutation.• This patient was previously misdiagnosed as dopa-responsive dystonia. • Parkinson's disease was later diagnosed via next-generation sequencing.

• We present a patient with cerebellar ataxia who has chromosomal deletion. • This is the first report of chromosomal deletion in 7q31.2-31.32 including CADPS. • Functional level was improved through balance training with a dopamine agonist.

Study design: Retrospective cohort study. Objective: To determine the risk factors associated with dysphagia in individuals with cervical spinal cord injury (CSCI) and analyze the differences between individuals with improved penetration-aspiration (PA) and persistent PA on follow-up. Setting: Tertiary inpatient rehabilitation facilities. Methods: Medical records of individuals with CSCI admitted between December 2009 and February 2023 who underwent a videofluoroscopic swallowing study (VFSS) were retrospectively reviewed. Multivariate logistic regression analysis was performed to assess risk factors for dysphagia. Differences between individuals with improved PA and persistent PA were analyzed using an independent t-test. Results: In total, 149 participants were enrolled. Age (odds ratio (OR) 1.077, 95% confidence interval (CI), 1.043 to 1.118), percentage of forced vital capacity to predicted normal (FVC (% predicted)) (OR 0.897, 95% CI, 0.850 to 0.941), and skeletal muscle mass ratio (SMMR) (OR 0.888, 95% CI, 0.791 to 0.991) were significant factors associated with the risk of PA. According to the receiver operating characteristic curve analysis, the cut-off values for age, FVC (% predicted), and SMMR were 55.50, 46.11, and 41.01, respectively. A secondary analysis of the follow-up VFSS was performed in 38 participants. The follow-up FVC(%predicted) and degree of weight loss differed significantly between the improved PA and persistent PA groups. Conclusions: Older age, low FVC (% predicted), and low SMMR can be predictors of dysphagia in patients with CSCI. On follow-up VFSS, individuals with improved PA demonstrated greater improvement in FVC (% predicted).

IntroductionWhen it is difficult to determine whether a muscle is grade 0 or 1, manual muscle test (MMT) accuracy can be further improved through utilizing needle electromyography (EMG) as a supplementary and confirmatory examination tool.ObjectiveTo evaluate concordance between needle EMG and MMT findings for key muscles with motor grades 0 and 1 on the International Standards of Neurological Classification of Spinal Cord Injury (ISNCSCI) examination, and to potentially improve the prognosis for grade 0 muscles with proven muscle activity based on needle EMG findings.DesignA retrospective analysisSettingInpatient tertiary rehabilitation facilityInterventionsNot applicablePatientsOne hundred seven patients with spinal cord injury admitted for rehabilitation (n = 1218 key muscles, grades 0 or 1).Main outcome measuresInter‐rater reliability between MMTs and needle EMG was analyzed using Cohen's kappa coefficient (κ). A Fisher's exact test was used to determine whether the presence of motor unit action potentials (MUAPs) in muscles graded 0 on the initial MMT at admission was associated with MMT grades at discharge and readmission.ResultsModerate‐to‐substantial agreement between needle EMG and MMT findings was observed (κ = 0.671, P <. 01). Concerning key upper and lower extremity muscles, moderate and substantial agreement was identified, respectively. The lowest agreement was noted for C6 muscles. During follow up, 68.8% of muscles with proven MUAPs showed improved motor grades.ConclusionsAt initial assessment, distinguishing between motor grades 0 and 1 is imperative as motor grade 1 muscles are more likely to have a better prognosis for improvement. Moderate‐to‐substantial agreement was observed between MMT and needle EMG findings. The MMT is a reliable method of muscle grading, yet needle EMG may be of value in certain clinical situations to evaluate for the presence of MUAPs when evaluating motor function.This article is protected by copyright. All rights reserved.