UNASSIGNED: Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing physical fitness and compensation of functional disabilities.
UNASSIGNED: We hypothesize that symptomatic treatment options and psychosocial interventions for other neurological diseases with altered facial expression could be applicable to FSHD. Therefore, the aim of this review is to collect symptomatic treatment approaches that target facial muscle function and psychosocial interventions in various neurological diseases with altered facial expression in order to discuss the applicability to FSHD.
UNASSIGNED: A systematic search was performed. Selected studies had to include FSHD, Bell\'s palsy, Moebius syndrome, myotonic dystrophy type 1, or Parkinson\'s disease and treatment options which target altered facial expression. Data was extracted for study and patients\' characteristics, outcome assessment tools, treatment, outcome of facial expression and or psychosocial functioning.
UNASSIGNED: Forty studies met the inclusion criteria, of which only three studies included FSHD patients exclusively. Most, twenty-one, studies were performed in patients with Bell\'s palsy. Studies included twelve different therapy categories and results were assessed with different outcomes measures.
UNASSIGNED: Five therapy categories were considered applicable to FSHD: training of (non-verbal) communication compensation strategies, speech training, physical therapy, conference attendance, and smile restoration surgery. Further research is needed to establish the effect of these therapies in FSHD. We recommend to include outcome measures in these studies that cover at least cosmetic, functional, communication, and quality of life domains.

BACKGROUND: Management of muscular dystrophies (MD) relies on conservative non-pharmacological treatments, but evidence of their effectiveness is limited and inconclusive.
OBJECTIVE: To investigate the effectiveness of conservative non-pharmacological interventions for MD physical management.
METHODS: This systematic review and meta-analysis followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and searched Medline, CINHAL, Embase, AMED and Cochrane Central Register of Controlled Trial (inception to August 2022). Effect size (ES) and 95% Confidence Interval (CI) quantified treatment effect.
RESULTS: Of 31,285 identified articles, 39 studies (957 participants), mostly at high risk of bias, were included. For children with Duchenne muscular dystrophy (DMD), trunk-oriented strength exercises and usual care were more effective than usual care alone in improving distal upper-limb function, sitting and dynamic reaching balance (ES range: 0.87 to 2.29). For adults with Facioscapulohumeral dystrophy (FSHD), vibratory proprioceptive assistance and neuromuscular electrical stimulation respectively improved maximum voluntary isometric contraction and reduced pain intensity (ES range: 1.58 to 2.33). For adults with FSHD, Limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD), strength-training improved dynamic balance (sit-to-stand ability) and self-perceived physical condition (ES range: 0.83 to 1.00). A multicomponent programme improved perceived exertion rate and gait in adults with Myotonic dystrophy type 1 (DM1) (ES range: 0.92 to 3.83).
CONCLUSIONS: Low-quality evidence suggests that strength training, with or without other exercise interventions, may improve perceived exertion, distal upper limb function, static and dynamic balance, gait and well-being in MD. Although more robust and larger studies are needed, current evidence supports the inclusion of strength training in MD treatment, as it was found to be safe.

BACKGROUND: In this review we sought to characterize the lived experience of people living with FSHD (pwFSHD) to help clinicians to orient their services to the needs of these individuals.
METHODS: Five electronic databases were systematically searched for qualitative research studies containing quotations from pwFSHD. ENhancing Transparency in REporting the Synthesis of Qualitative research and Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines informed the methodology. Study quality was assessed using the Critical Appraisal Skills Programme Checklist tool, which measures the methodological quality of qualitative research. Data extracted from included studies were analyzed using thematic synthesis.
RESULTS: Ninety-nine pwFSHD took part in the six studies included in this review - from research teams based in two countries. Five descriptive themes emerged: \"Engaging with life as symptoms progress\"; \"The emotional journey\"; \"A family burden to bear\"; \"Social connection and disconnection\"; and \"Tension between visibility and invisibility.\" From these, two analytical themes were derived: \"The emotional challenge of continuing and intensifying adaptation\" and \"The relational burden of rare disease.\"
CONCLUSIONS: The lived experience of pwFSHD is characterized by physical, emotional, and social challenges that impact on engagement with life, particularly as symptoms progress. Further research is needed to provide a fuller understanding of the experience of pain in FSHD and of the lived experience of FSHD across cultures.

BACKGROUND: Eating an adequate diet and maintaining a healthy body weight can be challenging for patients with muscular disorders (MD). Starting tube feeding can have a positive impact on nutritional status, functioning and quality of life. Guidelines on when to start tube feeding in adults with MD are lacking.
OBJECTIVE: We aim to review the scientific literature on indications to start tube feeding in adults with facioscapulohumeral dystrophy (FSHD), inclusion body myositis (IBM), muscular dystrophy type 1 (DM1), oculopharyngeal muscular dystrophy (OPMD) and congenital myopathies.
METHODS: This scoping review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR) guidelines. Relevant studies were identified in Pubmed, Embase and Cinahl (April 2022). The medical subject headings (MeSH) and text words used were related to FSHD, IBM, DM1, OPMD or congenital myopathies and dysphagia, enteral nutrition or malnutrition.
RESULTS: Of 1046 unique articles, 9 case reports and 2 retrospective case series were included. Indications to start tube feeding were dysphagia, malnutrition/weight loss and respiratory infections (due to aspiration). Percutaneous endoscopic gastrostomy (PEG) tubes were used most often and complications were respiratory failure, problems with the tube itself, accidental tube removal, cutaneous symptoms, digestive symptoms, and peritonitis.
CONCLUSIONS: Data on tube feeding in MD is scarce. Indications to start tube feeding were similar across the various MD. We call for more research in this field and suggest to include screening for dysphagia, aspiration and malnutrition in for the treatment of various MD.

The aim of this report is to describe the management of a severe spinal deformity in an adolescent with facioscapulohumeral dystrophy (FSHD) and review the available literature on the topic.
A 14-year-old patient with a genetically confirmed diagnosis of FSHD was evaluated for right thoracolumbar scoliosis (TL) and severe lumbar hyperlordosis. Spinal radiographs showed a right-sided curve of 32° and in the sagittal plane a lordotic curve T10-S1 -143°, TL junction -51.6°, LL -115°, pelvic incidence (PI) 25.5°, pelvic tilt 63.3°, PI-LL mismatch -90°, and a sagittal imbalance of -146 mm. An MRI scan evidenced atrophy of the paraspinal muscles. An instrumental gait analysis revealed significant pelvic anteversion associated with hip flexion and mild equinus. During follow-up, the patient developed a progressive inability to walk and difficulty sitting along with respiratory compromise and pain.
At the age of 16 years, a posterior T2-iliac spinal fusion was performed using pedicle screws and four iliac anchors, with a 4-rod system placed at the lumbopelvic level. Significant correction of the hyperlordosis, the PI-LL mismatch, and sagittal imbalance was achieved, and the patient improved her sitting capacity, quality of life (QoL) and self-esteem and reported a decreased perception of disability at 2-year follow-up.
This is the first published case of spinal deformity secondary to FSHD to use gait analysis to supplement the decision of optimal timing for surgery, and the second published case of spine surgery in a pediatric patient. Although spinal fusion surgery is controversial in ambulatory FSHD patients with extensive deformity, when ambulation is impaired, surgery improves function, prevents progression, and restores sagittal balance, increasing patient\'s QoL.

BACKGROUND: Early-onset facioscapulohumeral muscular dystrophy (FSHD) is defined as facial weakness before the age of 5 and shoulder weakness before the age of 10. Early-onset facioscapulohumeral muscular dystrophy is relatively rare in the clinic. This onset is relatively early, the symptoms are serious, and it is likely to be accompanied by retinal vascular disease, sensorineural deafness, epilepsy and other extramuscular multisystem diseases. We report the clinical characteristics of 2 patients with early-onset facial and shoulder brachial muscular dystrophy to improve clinicians\' understanding of this particular condition.
METHODS: We report 2 pediatric patients with FSHD type 1. Patient 1 is an 11-year-old boy with reduced facial expression for 9 years and proximal muscle weakness for 6 years. Patient 2 is a 4-year and 6-month-old girl with developmental delay for 3 years and facial weakness for 1 year.
METHODS: According to the clinical manifestations and molecular genetic testing (such as Southern blot analysis), the patients were diagnosed with early-onset FSHD1.
METHODS: The patients received cocktail therapy (vitamin B1 tablets, vitamin B2 tablets, vitamin B6 tablets, vitamin C tablets, vitamin E tablets, idebenone tablets, etc.) to improve their muscle metabolism.
RESULTS: Both patients\' condition did not improve after being given cocktail treatment. According to a recent follow-up, the symptoms of facial weakness and proximal muscle weakness were aggravated.
CONCLUSIONS: Early-onset FSHD presents early and has frequent systemic features, and it is a severe subtype of FSHD. Early identification and genetic diagnosis should be performed to improve patient prognosis.

Facioscapulohumeral muscular dystrophy (FSHD)-the worldwide third most common inherited muscular dystrophy caused by the heterozygous contraction of a 3.3 kb tandem repeat (D4Z4) on a chromosome with a 4q35 haplotype-is a progressive genetic myopathy with variable onset of symptoms, distribution of muscle weakness, and clinical severity. While much is known about the clinical course of adult FSHD, data on the early-onset infantile phenotype, especially on the progression of the disease, are relatively scarce. Contrary to the classical form, patients with infantile FSHD more often have a rapid decline in muscle wasting and systemic features with multiple extramuscular involvements. A rough correlation between the phenotypic severity of FSHD and the D4Z4 repeat size has been reported, and the majority of patients with infantile FSHD obtain a very short D4Z4 repeat length (one to three copies, EcoRI size 10-14 kb), in contrast to the classical, slowly progressive, form of FSHD (15-38 kb). With the increasing identifications of case reports and the advance in genetic diagnostics, recent studies have suggested that the infantile variant of FSHD is not a genetically separate entity but a part of the FSHD spectrum. Nevertheless, many questions about the clinical phenotype and natural history of infantile FSHD remain unanswered, limiting evidence-based clinical management. In this review, we summarize the updated research to gain insight into the clinical spectrum of infantile FSHD and raise views to improve recognition and understanding of its underlying pathomechanism, and further, to advance novel treatments and standard care methods.

暂无摘要。

Facioscapulohumeral muscular dystrophy (FSHD) is a rare condition affecting 1/20,000 persons and the third most common muscular dystrophy condition, with an autosomal dominant pattern of inheritance characterized by progressive muscular weakness primarily involving the face, shoulder girdle, and upper arm. The condition is associated with atrophic musculature of the trunk and core leading to difficulties with gait, posture, and function. FSHD leaves as many as 20% of patients wheelchair-bound and most commonly presents with low back, neck, and shoulder pain.
We present the case of a patient with FSHD who underwent multiple spinal fusion surgeries without relief in her back pain. Imaging studies serve to highlight the extent of paraspinal muscle atrophy and provides the basis for a discussion on the preoperative factors that may predict patients most likely to benefit from surgery. We then provide a brief review of the literature on the role of paraspinal muscle atrophy in back pain.
This case adds to our understanding of the surgical management of patients with FSHD and patients with atrophic core musculature as a whole.

Access to reliable, valid, accurate and responsive outcome measures is essential to ensure standards of care and clinical trial readiness in facioscapulohumeral dystrophy. Review aims: 1. identify and provide a descriptive summary of all outcome measures used to measure physical function. 2. systematically appraise the evidence on measurement properties (reliability, construct validity, measurement error and responsiveness) of performance-based outcome measures of physical function in individuals diagnosed with facioscapulohumeral dystrophy. Selected electronic health-related databases were searched from inception - Feb 2019. Two authors independently screened studies for eligibility and extracted data for psychometric evidence. The methodological quality of outcome measure studies was appraised using the consensus-based standards for the selection of health measurement instruments (COSMIN) checklist. Of 12 identified outcome measures, four required high-technology equipment. Only three were FSHD specific. The FSH-clinical score had \'moderate\' quality positive evidence for reliability. The remaining measures had \'low\' to \'very low\' quality evidence supporting properties of reliability, validity, responsiveness and measurement error. Identified studies tended towards low recruitment in middle-aged, ambulant individuals making results hard to generalise across lifespan and levels of severity. There is a paucity of measurement evidence supporting the use of outcome measures in people with facioscapulohumeral dystrophy.