Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015

Baker, Scott; Corbett, A.D.; Engelen, B.G.M. van; McNamara, Stephen; Mah, Jean K.; Ryan, Monique M.; Rasko, John E.J.; Raykar, Veena; Sacconi, Sabrina; Tapscott, Stephen J.; Tawil, Rabi; Wagner, Kathryn R.; Watts, Alan G.

doi:10.1016/j.nmd.2016.03.007

Cited by 8 publications

(14 citation statements)

References 36 publications

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“…Compromised respiratory function should be known to the anesthetist and is defined as spirometry forced vital capacity (FVC) values of lower than 60% predicted. 52 Bearing in mind that spinal deformities can make epidural blockade more difficult, pain relief using epidural anesthesia is possible, as well as spinal anesthesia. 43 , 53 …”

Section: Delivery In Fshd Patientsmentioning

confidence: 99%

Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

et al. 2021

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Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due to incomplete penetrance of the disease. Full understanding of the genetic causes and potential inheritance patterns of both distinct FSHD types is essential: FSHD1 is an autosomal dominantly inherited repeat disorder, whereas FSHD2 is a digenic disorder. This has become even more relevant now that prenatal diagnosis and preimplantation genetic diagnosis options are available for FSHD1. Pregnancy and delivery outcomes in FSHD are usually favorable, but clinicians should be aware of the risks.We aim to provide clinicians with case-based strategies for reproductive counseling in FSHD, as well as recommendations for pregnancy and delivery.

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Section: Delivery In Fshd Patientsmentioning

confidence: 99%

Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

et al. 2021

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“…Currently, there are no therapies or interventions that prevent the wasting of muscles in patients with FSHD [ 7 ]. Muscle-strengthening drugs have been shown to have limited effect on the disease progression [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study

Zhuparris¹,

Maleki²,

Koopmans³

et al. 2023

JMIR Form Res

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Background Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disease. Its slow and variable progression makes the development of new treatments highly dependent on validated biomarkers that can quantify disease progression and response to drug interventions. Objective We aimed to build a tool that estimates FSHD clinical severity based on behavioral features captured using smartphone and remote sensor data. The adoption of remote monitoring tools, such as smartphones and wearables, would provide a novel opportunity for continuous, passive, and objective monitoring of FSHD symptom severity outside the clinic. Methods In total, 38 genetically confirmed patients with FSHD were enrolled. The FSHD Clinical Score and the Timed Up and Go (TUG) test were used to assess FSHD symptom severity at days 0 and 42. Remote sensor data were collected using an Android smartphone, Withings Steel HR+, Body+, and BPM Connect+ for 6 continuous weeks. We created 2 single-task regression models that estimated the FSHD Clinical Score and TUG separately. Further, we built 1 multitask regression model that estimated the 2 clinical assessments simultaneously. Further, we assessed how an increasingly incremental time window affected the model performance. To do so, we trained the models on an incrementally increasing time window (from day 1 until day 14) and evaluated the predictions of the clinical severity on the remaining 4 weeks of data. Results The single-task regression models achieved an R2 of 0.57 and 0.59 and a root-mean-square error (RMSE) of 2.09 and 1.66 when estimating FSHD Clinical Score and TUG, respectively. Time spent at a health-related location (such as a gym or hospital) and call duration were features that were predictive of both clinical assessments. The multitask model achieved an R2 of 0.66 and 0.81 and an RMSE of 1.97 and 1.61 for the FSHD Clinical Score and TUG, respectively, and therefore outperformed the single-task models in estimating clinical severity. The 3 most important features selected by the multitask model were light sleep duration, total steps per day, and mean steps per minute. Using an increasing time window (starting from day 1 to day 14) for the FSHD Clinical Score, TUG, and multitask estimation yielded an average R2 of 0.65, 0.79, and 0.76 and an average RMSE of 3.37, 2.05, and 4.37, respectively. Conclusions We demonstrated that smartphone and remote sensor data could be used to estimate FSHD clinical severity and therefore complement the assessment of FSHD outside the clinic. In addition, our results illustrated that training the models on the first week of data allows for consistent and stable prediction of FSHD symptom severity. Longitudinal follow-up studies should be conducted to further validate the reliability and validity of the multitask model as a tool to monitor disease progression over a longer period. Trial Registration ClinicalTrials.gov NCT04999735; https://www.clinicaltrials.gov/ct2/show/NCT04999735

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“…Facio-scapulo-humeral dystrophy (FSHD) is one of the most common muscular dystrophies, with an estimated worldwide prevalence of about 15-2/20 000 individuals 1 2. FSHD is an inherited disease with autosomal dominant transmission, but approximately 30% of cases present a sporadic mutation and have a negative family history 1 2. The genetic underpinning of the disorder is variable.…”

Section: Introductionmentioning

confidence: 99%

Atypical progression of motor symptoms in facio-scapulo-humeral dystrophy: clinical worsening or overlap?

2023

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Facio-scapulo-humeral dystrophy (FSHD) is a common muscular dystrophy featuring progressive weakness, mostly involving facial muscles and the scapular cingulum. FSHD is an autosomal-dominant inherited disease driven by the contraction of the D4Z4 region of chromosome 4. Patients with FSHD have a high life expectancy, about 20% of FSHD subjects need wheelchairs in their 50s, and extramuscular involvement is rare, however, no epidemiological studies have been carried out on this data.Our case describes a man affected by FSHD who, in his 60s, developed atypical Parkinsonism diagnosed as progressive supranuclear palsy (PSP).FSHD symptoms can hide other neuromuscular diseases developed on ageing. This case highlights the importance of considering possible overlaps with other neurodegenerative diseases.

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Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015

Cited by 8 publications

References 36 publications

Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study

Atypical progression of motor symptoms in facio-scapulo-humeral dystrophy: clinical worsening or overlap?

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