Facioscapulohumeral Muscular Dystrophy

Statland, Jeffrey; Tawil, Rabi

doi:10.1016/j.ncl.2014.04.003

Cited by 70 publications

(66 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…No patients reported onset of symptom in their sixth decade. The majority of FSHD patients (61.7%) reported onset of symptoms before 20 years old as typically seen in FSHD [2]. …”

Section: Resultsmentioning

confidence: 99%

“…Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are both autosomal dominant disorders and the most common adult-onset muscular dystrophies [1, 2]. Two subtypes of DM exist with different etiologies and similar, yet distinct clinical presentations.…”

Section: Introductionmentioning

confidence: 99%

“…Of FSHD cases, approximately 95% of patients have FSHD type 1 (FSHD1) and 5% of patients have FSHD type 2 (FSHD2) [2]. Recent evidence suggests that both FSHD types share a common pathophysiological pattern caused by an abnormal expression of the DUX4 gene on chromosome 4q35, most likely by a complex, toxic gain of function mechanism [19].…”

Section: Introductionmentioning

confidence: 99%

“…Recent evidence suggests that both FSHD types share a common pathophysiological pattern caused by an abnormal expression of the DUX4 gene on chromosome 4q35, most likely by a complex, toxic gain of function mechanism [19]. Studies suggest that both FSHD subtypes are clinically identical [2, 20]. Patients with FSHD present with a unique pattern of muscle weakness affecting the face, shoulders, and upper arms.…”

Section: Introductionmentioning

confidence: 99%

“…Non-muscular symptoms are rare and may include retinal vascular changes (Coat’s Syndrome) and hearing loss, especially in more severely affected patients [21, 22]. As the disease progresses, the distal anterior leg and hip-girdle muscles are also involved [2]. Studies indicate that approximately 20% of patients may require a wheelchair by their sixth decade [23, 24].…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy

et al. 2016

View full text Add to dashboard Cite

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations. Higher levels of medication adherence lead to better health outcomes, especially important to patients with DM and FSHD because of their multisystem manifestations and complexity of care. However, medication adherence has not previously been studied in a large cohort of DM type 1 (DM1), DM type 2 (DM2), and FSHD patients. The purpose of our study was to survey medication adherence and disease manifestations in patients enrolled in the NIH supported National DM and FSHD Registry. The study was completed by 110 DM1, 49 DM2, and 193 FSHD patients. Notable comorbidities were hypertension in FSHD (44%) and DM2 (37%), gastroesophageal reflux disease in DM1 (24%) and DM2 (31%) and arrhythmias (29%) and thyroid disease (20%) in DM1. Each group reported high levels of adherence based on regimen complexity, medication costs, health literacy, side effect profile, and their beliefs about treatment. Only dysphagia in DM1 was reported to significantly impact medication adherence. Approximately 35% of study patients reported polypharmacy (taking 6 or more medications). Of the patients with polypharmacy, the DM1 cohort was significantly younger (mean=55.0 years) compared to DM2 (59.0 years) and FSHD (63.2 years) and had shorter disease duration (mean=26 years) compared to FSHD (26.8 years) and DM2 (34.8 years). Future research is needed to assess techniques to ease pill swallowing in DM1 and to monitor polypharmacy and potential drug interactions in DM and FSHD.

show abstract

“…No patients reported onset of symptom in their sixth decade. The majority of FSHD patients (61.7%) reported onset of symptoms before 20 years old as typically seen in FSHD [2]. …”

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy

et al. 2016

View full text Add to dashboard Cite

show abstract

Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome

Kokitsu‐Nakata,

Segarra,

Tonello

et al. 2024

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Bosma arhinia microphthalmia syndrome (BAMS, OMIM #603457) is a rare autosomal dominant disorder caused by heterozygous variation in the SMCHD1 gene on chromosome 18p11. Clinically, it is characterized by microphthalmia, absence or hypoplasia of nose, choanal atresia, anosmia, palatal abnormalities, hypogonadotropic hypogonadism, and cryptorchidism. Here we report a Brazilian patient with a likely pathogenic variation in SMCHD1 gene (c.1418A>T; p.Glu473Val) presenting hemiarhinia associated with short stature and hypogonadotropic hypogonadism. Due to the clinical variability of BAMS, we considered that hemiarhinia, without microphthalmia, in the present case, can be considered a mild form of BAMS and could be considered for screening of SMCHD1 gene variation.

show abstract

Facioscapulohumeral Muscular Dystrophy

DeSimone

Pakula

Lek

et al. 2017

Comprehensive Physiology

View full text Add to dashboard Cite

Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities. While typically inherited as autosomal dominant, facioscapulohumeral muscular dystrophy (FSHD) has a complex genetic and epigenetic etiology that has only recently been well described. The most prevalent form of the disease, FSHD1, is associated with the contraction of the D4Z4 microsatellite repeat array located on a permissive 4qA chromosome. D4Z4 contraction allows epigenetic derepression of the array, and possibly the surrounding 4q35 region, allowing misexpression of the toxic DUX4 transcription factor encoded within the terminal D4Z4 repeat in skeletal muscles. The less common form of the disease, FSHD2, results from haploinsufficiency of the SMCHD1 gene in individuals carrying a permissive 4qA allele, also leading to the derepression of DUX4, further supporting a central role for DUX4. How DUX4 misexpression contributes to FSHD muscle pathology is a major focus of current investigation. Misexpression of other genes at the 4q35 locus, including FRG1 and FAT1, and unlinked genes, such as SMCHD1, has also been implicated as disease modifiers, leading to several competing disease models. In this review, we describe recent advances in understanding the pathophysiology of FSHD, including the application of MRI as a research and diagnostic tool, the genetic and epigenetic disruptions associated with the disease, and the molecular basis of FSHD. We discuss how these advances are leading to the emergence of new approaches to enable development of FSHD therapeutics. © 2017 American Physiological Society. Compr Physiol 7:1229-1279, 2017.

show abstract

Facioscapulohumeral Muscular Dystrophy

Cited by 70 publications

References 38 publications

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy

Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome

Facioscapulohumeral Muscular Dystrophy

Contact Info

Product

Resources

About