Facioscapulohumeral Muscular Dystrophy (FSHD) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

RWD131 Understanding the Patients ’ Journey Pre- and Post-Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD): A Real-World Retrospective Data Analysis
Describe changes in outcomes (healthcare conditions, services, costs, and care days) in Facioscapulohumeral Muscular Dystrophy (FSHD) patients vs matched controls (MCs) two-years post versus pre diagnosis. (Source: Value in Health)
Source: Value in Health - June 26, 2022 Category: International Medicine & Public Health Authors: C Konersman, K Munoz, RA Brook, NL Kleinman, K DiTrapani, B McEvoy, A Peters, T Hardin, CY Chen, M Stahl Source Type: research

The “wrench-head” appearance of thigh muscle CT in infantile facioscapulohumeral muscular dystrophy
(Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - June 1, 2022 Category: Neurology Source Type: research

080 Home mechanical ventilation (HMV) in primary muscle disease: a 12-year single centre cohort study
We present a series of 232 patients with dystrophies who received HMV. The number of patients with the condition and the mean duration of support to death (n=75) or December 2019 was; Duchenne Muscular dystrophy – 113 patients (64 alive: 49 died) received HMV for 70m (1–240). Myotonic dystrophy – 42 patients (40:2) - 52m (1–185). Limb girdle – 36 patients (18:18) – 71m (4–130). Congenital – 14 (all alive) – 50m (6–101). Facioscapulohumeral – 9 (8:1) – 94m (46–209) Becker – 8 (3:5) – 40m (15–120) Ventilation was generally suppo...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Murphy, P., Marino, P., Howard, L., Ramsay, M., Kaltsakas, G., Hart, N., Howard, R. Tags: Poster Presentations Source Type: research

ScapuloThoracic Arthrodesis for Facio-Scapulo-Humeral Dystrophy: Outcomes at mean 7.3 years [3.5 - 13] follow-up. CT measurement of the fixation position of the arthrodesis and radioclinical correlations
CONCLUSIONS: Scapulothoracic arthrodesis for facioscapulohumeral dystrophy improved pain, shoulder flexion and abduction and provided good functional outcomes at 3,5 to 13 years of follow up. A method of CT assessment of the position of the arthrodesis is presented to analyse precisely the position of the scapula but no correlations with shoulder motions were found. Preoperative evaluation of deltoid function and scapular winging seemed to be the most important predictors of shoulder motions gains after this procedure.LEVEL OF EVIDENCE: III, Retrospective cohort study.PMID:35597545 | DOI:10.1016/j.otsr.2022.103331 (Source: Hand Surgery)
Source: Hand Surgery - May 21, 2022 Category: Surgery Authors: Elise Loock Elvire Guerre Vincent Morel Christophe Chantelot Marc Saab Source Type: research

Exercise Intolerance in Facioscapulohumeral Muscular Dystrophy
Purpose Determine 1) if adults with facioscapulohumeral muscular dystrophy (FSHD) exhibit exercise intolerance and 2) potential contributing mechanisms to exercise intolerance, specific to FSHD. Methods Eleven people with FSHD (47 ± 13 yr, 4 females) and 11 controls (46 ± 13 yr, 4 females) completed one visit, which included a volitional peak oxygen consumption (V̇O2peak) cycling test. Breath-by-breath gas exchange, ventilation, and cardiovascular responses were measured at rest and during exercise. The test featured 3-min stages (speed, 65–70 rpm) with incremental increases in intensity (FSHD: 20 W per sta...
Source: Medicine and Science in Sports and Exercise - May 18, 2022 Category: Sports Medicine Tags: CLINICAL SCIENCES Source Type: research

Development and validation of the patient-reported "Facial Function Scale" for facioscapulohumeral muscular dystrophy
CONCLUSIONS: This study provides a linear-weighted, clinimetrically sound, patient-reported outcome measure on the functional disabilities relating to facial weakness in FSHD, to enable further research on this relevant topic.Implications for rehabilitationFacial weakness and its functional consequences are an often underappreciated clinical feature of facioscapulohumeral muscular dystrophy (FSHD), both in symptomatic treatment and in research.To enable the development and testing of therapeutic symptomatic interventions for facial weakness, clinical outcome measures are required.This study provides a linear-weighted, clin...
Source: Disability and Rehabilitation - May 16, 2022 Category: Rehabilitation Authors: Karlien Mul Feri Wijayanto Tom G J Loonen Perry Groot Sanne C C Vincenten Simone Knuijt Jan T Groothuis Thomas J J Maal Tom Heskes Nicol C Voermans Baziel G M van Engelen Source Type: research

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update
Indian J Pathol Microbiol. 2022 May;65(Supplement):S259-S270. doi: 10.4103/ijpm.ijpm_1074_21.ABSTRACTMuscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) include dystroglycanopathies, merosin-deficient CMD, collagen VI-deficient CMD, SELENON-related rigid spine muscular dystrophy, and LMNA-related CMD. Childhood and adult-onset muscular dystrophies include dystrophinopathies, limb-girdle muscular dystrophies, Emery-Dreifuss muscul...
Source: Indian Journal of Pathology and Microbiology - May 13, 2022 Category: Pathology Authors: Deepti Narasimhaiah Megha S Uppin Prajnya Ranganath Source Type: research