Bilateral scapulothoracic arthrodesis for facioscapulohumeral muscular dystrophy: function, fusion, and respiratory consequences

Scapulothoracic arthrodesis (STA) has been proposed for the treatment of painful scapular winging in patients with facioscapulohumeral muscular dystrophy (FSHD). However, the rate of osseous fusion is variable, and there is a theoretical risk of reduced respiratory function after bilateral STA.
Source: Journal of Shoulder and Elbow Surgery - Category: Orthopaedics Authors: Source Type: research

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Condition:   Facioscapulohumeral Muscular Dystrophy (FSHD) Intervention:   Drug: Losmapimod Sponsor:   Fulcrum Therapeutics Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Rationale: Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, which is associated with facial, shoulder girdle, and paraspinal muscle atrophy. Most of the patients develop hypokyphosis and hyperlordosis in the course of the disease, to preserve standing posture. Corrective fusion is contraindicated in these patients as the surgery results with loss of compensatory hyperlordosis and leads to loss of trunk balance while standing. Although spinal fusion in neuromuscular scoliosis is a known treatment option, there are no studies in the literature on the spinal fusion of this specific ...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
CAMBRIDGE, Mass., Jan. 29, 2020 (GLOBE NEWSWIRE) -- Fulcrum Therapeutics, Inc. (Nasdaq: FULC), a clinical-stage biopharmaceutical company focused on improving the lives of patients with genetically defined rare diseases, today...
Source: Drugs.com - Clinical Trials - Category: Pharmaceuticals Source Type: clinical trials
PMID: 31853834 [PubMed - as supplied by publisher]
Source: Sleep and Breathing - Category: Sleep Medicine Authors: Tags: Sleep Breath Source Type: research
PMID: 31853833 [PubMed - as supplied by publisher]
Source: Sleep and Breathing - Category: Sleep Medicine Authors: Tags: Sleep Breath Source Type: research
Source: Sleep and Breathing - Category: Respiratory Medicine Source Type: research
Source: Sleep and Breathing - Category: Respiratory Medicine Source Type: research
CONCLUSIONS: The evidence regarding strength training and aerobic exercise interventions remains uncertain. Evidence suggests that strength training alone may have little or no effect, and that aerobic exercise training alone may lead to a possible improvement in aerobic capacity, but only for participants with FSHD. For combined aerobic exercise and strength training, there may be slight increases in muscle strength and aerobic capacity for people with dermatomyositis and polymyositis, and a slight decrease in aerobic capacity and increase in muscle strength for people with juvenile dermatomyositis. More research with rob...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
This article reviews the phenotype and pathophysiology of the disease as well as the recent efforts in clinical outcome measures and clinical trials. RECENT FINDINGS As the name implies, FSHD involves weakness of facial muscles, muscles that fix the scapula, and muscles overlying the humerus (biceps and triceps). The distinctive phenotype of FSHD occurs secondary to two different genetic mechanisms. FSHD type 1 (FSHD1) is due to a deletion on chromosome 4q, leading to hypomethylation and derepression of DUX4. FSHD type 2 (FSHD2) is due to mutations in SMCHD1 with resulting hypomethylation of the same subtelomeric region...
Source: CONTINUUM: Lifelong Learning in Neurology - Category: Neurology Tags: REVIEW ARTICLES Source Type: research
Conclusions: The ACTA1-MCM;FLExDUX4 bi-transgenic mouse model expresses a chronic low level of DUX4-fl and has mild pathology and detectable muscle weakness. The onset and progression of moderate to severe pathology can be controlled via tamoxifen injection to provide consistent and readily screenable phenotypes for assessing therapies targeting DUX4-fl mRNA and protein. Thus, these FSHD-like mouse models can be used to study a range of DUX4-fl expression and pathology dependent upon investigator need, through controlled mosaic expression of DUX4.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
More News: Facioscapulohumeral Muscular Dystrophy (FSHD) | Muscular Dystrophy | Orthopaedics | Reflex Sympathetic Dystrophy | Respiratory Medicine