The chair-mounted passive trunk orthosis (CMPTO) is designed to enhance wheelchair safety for individuals with dystrophinopathy during their daily activities. Given the disease\'s progressive nature, it is crucial to ensure that assistive devices are carefully evaluated to prevent overexertion. This study aims to assess the CMPTO\'s user experience and its impact on fatigue-related psychophysiological measurements. We conducted electromyography (EMG) evaluations of four trunk muscles and assessed perceived exertion using the Borg CR-10 scale in 40 healthy subjects while they performed seated maximal reaching tasks with the CMPTO. Additionally, fifteen dystrophinopathy patients evaluated the CMPTO for usability with the System Usability Scale. Paired t-tests were employed to compare the median frequency (MDF) of EMG signals, the Wilcoxon signed-rank test for evaluating exertion, and the Mann-Whitney U test to compare the usability reported by patients to those of healthy subjects. The 4-way ANOVA revealed that MDF patterns were significantly influenced by task orientation for each muscle. The CMPTO did not cause a significant reduction in the MDF. Tasks requiring greater trunk rotation were perceived as more exhaustive. Patients reported acceptable usability with the CMPTO, with scores higher than those of healthy subjects. The CMPTO\'s usability was comprehensively evaluated in both healthy subjects and patients with dystrophinopathy. Our findings indicate that the CMPTO can be safely used by individuals with dystrophinopathy as an assistive device to improve seated comfort and functional abilities.

Miyoshi Muscular Dystrophy Type 1 is a rare autosomal recessive myopathy caused by mutations in the dysferlin (DYSF) gene. This disease presents with progressive distal lower limb weakness, such as gastrocnemius and soleus muscles resulting in difficulty standing on tiptoes, walking, and climbing stairs. We describe a family consisting of 6 siblings, 2 affected males, 1 affected female, 1 affected-death female, and 2 unaffected females. The affected members of this family have lived without an appropriate diagnosis for more than 20 years. Our patients have a homozygous nonsense pathogenic variant of the DYSF gene with 0 frequency in the Genome Aggregation Database. Our study shows that genetic testing provides a crucial aid to doctors when the physical examination and the clinical history are insufficient. It also emphasizes that a precise and accurate diagnosis prompts the correct management of a complex case.

OBJECTIVE: This study aimed to evaluate the effectiveness of somatostatin analogues (SA) for cystoid maculopathy (CM) in retinitis pigmentosa (RP) patients.
METHODS: In this retrospective case series, clinical and imaging characteristics of 28 RP patients with CM, unresponsive to carbonic anhydrase inhibitors, were collected from medical charts. All patients received SA treatment as an alternative (octreotide long-acting release at 20 mg/month or 30 mg/month, or lanreotide at 90 mg/month or 120 mg/month). Outcome measures were mean reduction in foveal thickness (FT) and foveal volume (FV) and mean increase in best-corrected visual acuity at 3, 6 and 12 months of treatment initiation. Linear mixed models were used to calculate the effectiveness over time.
RESULTS: 52 eyes of 28 RP patients were included; 39% were male. The median age at the start of treatment was 39 years (IQR 30-53). Median follow-up was 12 months (range 6-12). From baseline to 12 months, the mean FT decreased from 409±136 µm to 334±119 µm and the mean FV decreased from 0.31±0.10 mm3 to 0.25±0.04 mm3. Linear mixed model analyses showed a significant decrease in log FT and log FV at 3, 6 and 12 months after the start of treatment compared with baseline measurements (p<0.001, p<0.001, p<0.001). Mean best-corrected visual acuity did not increase significantly (0.46±0.35 logMAR to 0.45±0.38 logMAR after 12 months).
CONCLUSIONS: SA may be an effective alternative treatment to reduce CM in RP patients.

UNASSIGNED: Biallelic pathogenic variants in CDH23 can cause Usher syndrome type I (USH1), typically characterized by sensorineural hearing loss, variable vestibular areflexia, and a progressive form of rod-cone dystrophy. While missense variants in CDH23 can cause DFNB12 deafness, other variants can affect the cadherin 23 function, more severely causing Usher syndrome type I D. The main purpose of our study is to describe the genotypes and phenotypes of patients with mild retinitis pigmentosa (RP), including sector RP with two pathogenic variants in CDH23.
UNASSIGNED: Clinical examination included medical history, comprehensive ophthalmologic examination, and multimodal retinal imaging, and in case 1 and 2, full-field electroretinography (ERG). Genetic analysis was performed in all cases, and segregation testing of proband relatives was performed in case 1 and 3.
UNASSIGNED: Three unrelated cases presented with variable clinical phenotype for USH1 and were found to have two pathogenic variants in CDH23, with missense variant, c.5237 G > A: p.Arg1746Gln being common to all. All probands had mild to profound hearing loss. Case 1 and 3 had mild RP with mid peripheral and posterior pole sparing, while case 2 had sector RP. ERG results were consistent with the marked loss of retinal function in both eyes at the level of photoreceptor in case 1 and case 2, with normal peak time in the former.
UNASSIGNED: Patients harbouring c.5237 G > A: p.Arg1746Gln variants in CDH23 can present with a mild phenotype including sector RP. This can aid in better genetic counselling and in prognostication.

OBJECTIVE: To study the prevalence of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in individuals with dystrophinopathy compared with the general population.
METHODS: Retrospective chart review to examine the prevalence of ADHD and ASD, diagnosed both formally and informally, in individuals with dystrophinopathy receiving care in the multidisciplinary neuromuscular clinic at the Ann and Robert H. Lurie Children\'s Hospital of Chicago.
RESULTS: Our results demonstrate an ADHD prevalence of 18.40% and ASD prevalence of 12.73%, both significantly higher than those reported for the general population. Our results revealed a significant association between ADHD diagnosis and a positive family history but did not show a statistically significant association between prevalence of ADHD and the use of steroids.
CONCLUSIONS: Based on our current study results, we plan to further evaluate the prevalence, in a prospective cross-sectional manner, using validated screens for both ADHD and ASD.

Sorsby macular dystrophy is an autosomal dominant disorder secondary to heterozygous mutations in the TIMP3 gene in 22q12. It begins with fine, pale, drusen-like deposits or confluent, faint yellow material or sheets beneath the retinal pigment epithelium, but it eventually progresses to either geographic atrophy with pigmentary clumps or scars due to the choroidal neovascular membrane around the fourth decade of life. We describe a patient who presented with a progressive loss of unilateral visual acuity, wrongly suggesting an infectious or inflammatory disease.

UNASSIGNED: Stride Velocity 95th Centile (SV95C) is the first wearable device-derived clinical outcome assessment (COA) to receive European Medicines Agency (EMA) qualification as a primary endpoint in ambulant patients with Duchenne muscular dystrophy (DMD) aged ≥4 years.
UNASSIGNED: To compare SV95C-in its first-ever clinical trial application as a secondary endpoint-with established motor function COAs used in the trial (Four-Stair Climb [4SC] velocity, North Star Ambulatory Assessment [NSAA], and Six-Minute Walk Distance [6MWD]).
UNASSIGNED: SV95C was a secondary endpoint in a subset (n = 47) of participants in the SPITFIRE/WN40227 trial of taldefgrobep alfa, which was discontinued due to lack of clinical benefit. Participants in the ≤48-week SV95C sub-study were 6-11 years old and received corticosteroids for ≥6 months pre-treatment. Pearson correlations were used to compare SV95C with the other COAs. Responsiveness and changes over time were respectively assessed via standardized response means (SRMs) based on absolute changes and mixed models for repeated measures.
UNASSIGNED: SV95C change at Week 24 was -0.07 m/s, with limited variability (standard deviation: 0.16, n = 27). The SRM for SV95C indicated moderate responsiveness to clinical change at the earliest timepoint (Week 12, n = 46), while those of the other COAs did not indicate moderate responsiveness until Week 36 (6MWD, n = 33) or Week 48 (4SC velocity, n = 20; NSAA total score, n = 20). Baseline correlations between SV95C and other COAs were strong (r = 0.611-0.695). Correlations between SV95C change from baseline to Week 48 and changes in other COAs were moderate to strong (r = 0.443-0.678).∥.
UNASSIGNED: Overall, SV95C demonstrated sensitivity to ambulatory decline over short intervals, low variability, and correlation with established COAs. Although the negative trial precluded demonstration of SV95C\'s sensitivity to drug effect, these findings support the continued use of SV95C in DMD clinical trials.

OBJECTIVE: This study aimed to assess the prevalence and associated factors of corneal opacity among adults in Kolladiba town, Northwest Ethiopia.
METHODS: A community-based cross-sectional study was conducted using a systematic random sampling technique. A total of 846 adult individuals were recruited for the study. Ethical approval was obtained from the University of Gondar School of Medicine Ethical Review Committee. A standardised, semistructured questionnaire plus an ocular examination were used to collect the data. The data were entered into Epi Info V.7 and cleaned and analysed using SPSS V.26. Binary and multivariable logistic regression analyses were performed to select candidate variables and identify statistically significant factors. Variables with a p value of less than 0.05 according to the multivariable logistic regression analysis were considered to be statistically significant.
CONCLUSIONS: The prevalence of corneal opacity among the study participants was 27.2% (95% CI 24.4% to 30.4%). In this study, age 49-60 years (adjusted OR (AOR): 1.90; 95% CI 1.03 to 3.32), age ≥61 years (AOR=2.12; 95% CI 1.17 to 3.87), inability to read and write (AOR=2.65; 95% CI 1.68 to 4.16), middle-income level (AOR=2.12; 95% CI 1.30 to 3.47) and poor income level (AOR=4.96; 95% CI 3.04 to 8.09) were factors that were significantly associated with corneal opacity.In this study, the prevalence of corneal opacity was considerably high. Being poor and unable to read and write were the primary factors significantly associated with corneal opacity. Hence, concerned stakeholders should strive to reverse the effects of corneal opacity on the quality of life of the study and causal studies should be considered in the future.

Dystrophin (DMD) gene mutations are associated with skeletal muscle diseases such as Duchenne and Becker Muscular Dystrophy (BMD) and X-linked dilated cardiomyopathy (XL-DCM). To investigate the molecular basis of DCM in a 37-year-old woman. Clinical and genetic investigations were performed. Genetic testing was performed with whole exome sequencing (WES) using the Illumina platform. According to the standard protocol, a variant found by WES was confirmed in all available members of the family by bi-directional capillary Sanger resequencing. The effect of the variant was investigated by using an in silico prediction of pathogenicity. The index case was a 37-year-old woman diagnosed with DCM at the age of 33. A germline heterozygous A>G transversion at nucleotide 10103 in the DMD gene, leading to an aspartic acid-glycine substitution at the amino acid 3368 of the DMD protein (c.10103A>G p.Asp3368Gly), was identified and confirmed by PCR-based Sanger sequencing of the exon 70. In silico prediction suggests that this variant could have a deleterious impact on protein structure and functionality (CADD = 30). The genetic analysis was extended to the first-degree relatives of the proband (mother, father, and sister) and because of the absence of the variant in both parents, the p.Asp3368Gly substitution was considered as occurring de novo. Then, the direct sequencing analysis of her 8-year-old son identified as hemizygous for the same variant. The young patient did not present any signs or symptoms attributable to DCM, but reported asthenia and presented with bilateral calf hypertrophy at clinical examination. Laboratory testing revealed increased levels of creatinine kinase (maximum value of 19,000 IU/L). We report an early presentation of dilated cardiomyopathy in a 33-year-old woman due to a de novo pathogenic variant of the dystrophin (DMD) gene (p.Asp3368Gly). Genetic identification of this variant allowed an early diagnosis of a skeletal muscle disease in her son.

UNASSIGNED: Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease whose pattern of weakness is predominantly distal. Limb-girdle muscular dystrophy type 2B/R2-dysferlin-related (LGMD2B/R2) is another neuromuscular disease, which presents an autosomal recessive inheritance and is marked by proximal muscle weakness. Even if uncommon, comorbid inherited pathologies must be considered in cases of atypical presentations, especially in those with family history of consanguinity.
UNASSIGNED: Herein, we report the unique case of a patient diagnosed with both DM1 and LGMD2B/R2: a 38-year-old woman in follow-up of DM1 in a neuromuscular disease service presenting prominent proximal weakness. The patient\'s parents were consanguineous, and creatine kinase levels were elevated. A multi-gene panel test was performed and revealed the diagnosis of LGMD2B/R2.
UNASSIGNED: Genetic diseases with atypical presentations should raise the possibility of a second disorder, prompting an appropriate investigation. Overlooking a second diagnosis can implicate in not offering adequate genetic counseling, support, or specific treatment.