Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review

Chen, Tai‐Heng; Wu, Yan-Zhang; Tseng, Yung-Hao

doi:10.3390/ijms21207783

Cited by 13 publications

(24 citation statements)

References 73 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The correlation is clearer with very short repeat arrays, with severe and progressive respiratory failure requiring ventilatory support reported very rarely in infantile-onset cases. 37,43 In our series, the repeat unit size was relatively similar between patients with and without abnormal FVC.…”

Section: Discussionsupporting

confidence: 56%

Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort

et al. 2022

View full text Add to dashboard Cite

Introduction/Aims: The full spectrum of the clinical phenotype of facioscapulohumeral muscular dystrophy (FSHD), beyond skeletal muscle weakness, remains poorly characterized. In this study, we describe systemic manifestations and symptom burden in a large series of FSHD patients.Methods: We performed a retrospective chart review of FSHD patients seen at our institution between 2000 and 2017. We reviewed patients' responses to a comprehensive review of symptoms and the results of diagnostic testing for sensorineural hearing loss, cardiac disease, dysphagia, ocular abnormalities, and respiratory insufficiency. We assessed the association between disease manifestations and age of onset, genetic profile, and disease duration. Results:We identified 87 patients with FSHD. The most common reported symptoms included pain (71%), difficulty sleeping (41%), headaches (27%), and altered mood (24%). When tested, 7 of 16 (44%) patients had sensorineural hearing loss, 20 of 60 (33%) had cardiac arrhythmias or conduction defects, 17 of 45 (38%) had echocardiogram abnormalities, 12 of 25 (48%) had reduced forced vital capacity, and 4 of 10 (40%) had oropharyngeal dysphagia. However, patients with these abnormalities represented 8%, 23%, 20%, 14%, and 5% of total number of patients, respectively, as uniform screening was lacking. Ocular pathology attributable to FSHD was not detected.Discussion: FSHD demonstrates a broad clinical phenotype. Increased vigilance among neurologists to screen for systemic manifestations of the disease is warranted.More uniform screening and future population-based studies are needed to compare findings in FSHD patients with the general population.

show abstract

Section: Discussionsupporting

confidence: 56%

Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort

et al. 2022

View full text Add to dashboard Cite

show abstract

“…It is notable that four of eight patients with early-onset FSHD had atrial enlargement or ventricular hypertrophy, which had not been reported in other cohorts. Previous studies had identified conduction abnormalities in early-onset FSHD, but it remains uncertain whether these abnormalities occur at a higher frequency in early-onset FSHD compared to those with a more classical age of onset ( 20 , 23 , 41 , 42 ).…”

Section: Discussionmentioning

confidence: 99%

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

et al. 2021

View full text Add to dashboard Cite

Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and predominantly affects facial and shoulder girdle muscles. Previous case reports and cohort studies identified minor cardiac abnormalities in FSHD patients, but their nature and frequency remain incompletely characterized.Methods: We reviewed cardiac, neurological and genetic findings of 104 patients with genetically confirmed FSHD.Results: The most common conduction abnormality was complete (7%) or incomplete (5%) right bundle branch block (RBBB). Bifascicular block, left anterior fascicular block, complete atrioventricular block, and 2:1 atrioventricular block each occurred in 1% of patients. Atrial fibrillation or flutter were seen in 5% of patients. Eight percent of patients had heart failure with reduced ejection fraction and 25% had valvular disease. The latter included aortic stenosis in 6% (severe in 4% and moderate in 2%) and moderate aortic regurgitation in 8%. Mitral valve prolapse (MVP) was present in 9% of patients without significant mitral regurgitation. There were no significant associations between structural or conduction abnormalities and age, degree of muscle weakness, or size of the 4q deletion.Conclusions: Both structural and conduction abnormalities can occur in FSHD. The most common abnormalities are benign (RBBB and MVP), but more significant cardiac involvement was also observed. The presence of cardiac abnormalities cannot be predicted from the severity of the neurological phenotype, nor from the genotype.

show abstract

“…FSHD is inherited in an autosomal dominant manner; however, approximately 30% are de novo cases. Additionally, there is a high frequency of somatic mosaicism [97]. FSHD typically presents with weakness in one or more of these facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot.…”

Section: Facioscapulohumeral Muscular Dystrophy (Fshd)mentioning

confidence: 99%

Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies

Rawls,

Diviak,

Smith

et al. 2023

Biomolecules

View full text Add to dashboard Cite

Muscular dystrophies are a heterogeneous group of genetic muscle-wasting disorders that are subdivided based on the region of the body impacted by muscle weakness as well as the functional activity of the underlying genetic mutations. A common feature of the pathophysiology of muscular dystrophies is chronic inflammation associated with the replacement of muscle mass with fibrotic scarring. With the progression of these disorders, many patients suffer cardiomyopathies with fibrosis of the cardiac tissue. Anti-inflammatory glucocorticoids represent the standard of care for Duchenne muscular dystrophy, the most common muscular dystrophy worldwide; however, long-term exposure to glucocorticoids results in highly adverse side effects, limiting their use. Thus, it is important to develop new pharmacotherapeutic approaches to limit inflammation and fibrosis to reduce muscle damage and promote repair. Here, we examine the pathophysiology, genetic background, and emerging therapeutic strategies for muscular dystrophies.

show abstract

Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review

Cited by 13 publications

References 73 publications

Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort

Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies

Contact Info

Product

Resources

About