Journal of Neuromuscular Diseases - Volume 11, issue 4

Authors: Bisciglia, Michela | Kadhim, Hazim | Lecomte, Sophie | Vandernoot, Isabelle | Desmyter, Laurence | Remiche, Gauthier

Article Type: Short Communication

Abstract: Dominant mutations in CACNA1S gene mainly causes hypokalemic periodic paralysis (PP)(hypoPP). A 68-year-old male proband developed a progressive proximal weakness from the age of 35. Muscle biopsy showed atrophic fibers with vacuoles containing tubular aggregates. Exome sequencing revealed a heterozygous p.R528H (c.1583G>A) mutation in the CACNA1S gene. CACNA1S -related HypoPP evolving to persistent myopathy in late adulthood is a well-known clinical condition. However, isolated progressive myopathy (without PP) was only exceptionally reported and never with an early onset. Reporting a case of early onset CACNA1S -related myopathy in a patient with no HypoPP we intend to alert clinicians …to consider it in the differential diagnosis of younger adult-onset myopathies especially when featuring vacuolar changes. Show more

Keywords: Hypokalemic periodic palsy, early onset myopathy, vacuolar myopathy, CACNA1S

DOI: 10.3233/JND-230020

Citation: Journal of Neuromuscular Diseases, vol. 11, no. 4, pp. 871-875, 2024

Authors: Semplicini, Claudio | Agostini, Michela | Andrigo, Cinzia | Masiero, Stefano | Piccione, Francesco | Sorarù, Gianni

Article Type: Short Communication

Abstract: Objective: Exoband (by Moveo, Padova, Italy) functions as a walking brace, comprising a belt and two leg loops connected by a mechanism that stores energy during the initial phase of the gait cycle and releases it in the subsequent phase. This enhances hip flexor thrust, leading to functional improvement in walking for individuals with conditions characterized by proximal weakness. It has been approved as a passive wearable device for individuals with impaired walking abilities. Objective of this study was to establish a protocol to assess the use of Exoband in patients with various neuromuscular disorders. Methods: This exploratory …retrospective study includes consecutive patients diagnosed with neuromuscular disorders (CIDP, motor polyneuropathy, MND), exhibiting a proximal involvement and gait abnormalities. The evaluation protocol incorporated specific walking-related outcome measures, the 10-meter walk test (10mWT), Time-up-and-go test (TUG), and 2-minute walking test (2MWT). The assessments were conducted both with and without the Exoband under standard conditions. Results: Eight patients (6 males, aged 60–78 years) were tested. An increase in velocity was observed in the 10mWT (median 13.4 sec, IQR 12.0–15.7 vs. 12.2 sec, IQR 11.3–14.2 seconds, p  < 0.05) and the TUG (14.0 sec, IQR 13–16.2 vs 13.35 sec, IQR 11–13.8; p  < 0.05, by non-parametric Wilcoxon test), and a trend of increase in 2MWT (median 88.2 vs 92.6 m, n.s.). Six out of 8 patients reported subjective benefits from the very first use, including improved walking stability, speed, confidence, and reduced fatigue. Conclusions: Our protocol provides a quantitative assessment of Exoband usefulness for patients affected by neuropathies with gait abnormalities. Further investigations are warranted to assess the long-term effects of its regular Exoband use, its efficacy in specific neuromuscular diseases, and its potential role as a rehabilitation device. Show more

Keywords: Gait abnormalities, neuromuscular disorders, rehabilitation, exoskeleton

DOI: 10.3233/JND-240021

Citation: Journal of Neuromuscular Diseases, vol. 11, no. 4, pp. 877-881, 2024

Authors: Cavusoglu, Dilek | Talim, Beril | Ekinci, Gazanfer | Topaloglu, Haluk

Article Type: Case Report

Abstract: Anti-HMGCR myopathy is decribed as an immune-mediated necrotizing myopathy which is characterised by subacute, progressive proximal muscle weakness and elevated creatine kinase (CK) level. In pediatric population, anti-HMGCR myopathy has been reported solely as small case reports, albeit rare. Although treatment consensus has not yet been established, proper treatment with several immunomodulators to include IVIg can show remarkable improvement. We report an 11-year-old-girl diagnosed with anti-HMGCR myopathy with 6 years of follow-up.

Keywords: Anti-HMGCR myopathy, muscle weakness, treatment, children

DOI: 10.3233/JND-240022

Citation: Journal of Neuromuscular Diseases, vol. 11, no. 4, pp. 883-887, 2024