Atypical facet of Möbius syndrome: Association with facioscapulohumeral muscular dystrophy

Kolski, Hanna; Leonard, Norma; Lemmers, Richard J.L.F.; Bamforth, J.

doi:10.1002/mus.20941

Cited by 7 publications

(7 citation statements)

References 12 publications

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“…Of note, standard deviations and interquartile ranges are indicative of substantial clinical variation that is characteristic of FSHD. Also, these severity scores have not been validated in early onset [26] 1982 USA Case-series 2 2 iFSHD + retinopathy Wulff [27] 1982 USA Case-report 1 1 iFSHD McGarry [28] 1983 USA Case-report 2 2 iFSHD Meyerson [29] 1984 USA Case-report 2 3 iFSHD + hearing loss Gieron [30] 1985 USA Case-report 3 4 iFSHD Gurwin [31] 1985 GBR Case-report 3 4 iFSHD Korf [32] 1985 USA Case-series 6 6 iFSHD + hearing loss Bailey [33] 1986 USA Case-report 1 8 iFSHD Voit [34] 1986 DEU Case-series 7 10 iFSHD + hearing loss Yasukochi [35] 1988 JPN Case-series 2 2 iFSHD + retinopathy Shapiro [36] 1991 USA Case-series 9 9 iFSHD Kamata [37] 1993 JPN Case-report 1 1 iFSHD Brouwer [13]* 1994 NLD Case-series 6 6 iFSHD † Jardine [38] 1994 GBR/DEU Case-series 19 27 iFSHD † Brouwer [21]* 1995 NLD Case-series 4 4 iFSHD Je Hyeon [39] 1995 JPN Case-report 1 1 iFSHD † Nakagawa [40] 1996 JPN Case-report 1 2 iFSHD † Nakagawa [40] 1997 JPN Population cohort 7 42 FSHD † Okinaga [41] 1997 JPN Case-series 2 3 iFSHD † Funakoshi [15] 1998 JPN Population cohort 20 127 FSHD ‡ Miura [42] 1998 JPN Case-series 2 2 iFSHD † Lapena [43] 2001 AUS Case-series 1 1 Vocal cord paralysis ‡ Dorobek [44] 2004 POL Case-report 1 2 iFSHD ‡ Wohlgemuth [45] 2004 NLD Case-series 4 10 FSHD + assisted ventilation ‡ Felice [46] 2005 USA Case-report 2 3 iFSHD ‡ Bindoff [47] 2006 NOR Case-series 2 2 iFSHD ‡ Klinge [16] 2006 GBR Case-series 7 7 iFSHD ‡ Saito [48] 2007 JPN Case-report 1 1 iFSHD Shields [49] 2007 USA Case-report 1 1 iFSHD ‡ Kolski [50] 2008 CAN Case-report 1 1 iFSHD ‡ Kriswalsky [51] 2008 USA Case-report 1 1 iFSHD ‡ Trevisan [17] 2008 ITA Case-series 5 7 iFSHD + 10-13Kb ‡ Lee…”

Section: Discussionmentioning

confidence: 99%

Early onset facioscapulohumeral dystrophy – a systematic review using individual patient data

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Voermans

Okkersen

et al. 2017

Neuromuscular Disorders

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Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing. We performed a systematic literature search on the clinical features of early onset FSHD comprising a total of 43 articles with individual data on 227 patients. Additional data from four cohorts was provided by the authors. Mean age at reporting was 18.8 years, and 40% of patients were wheelchair-dependent at that age. Half of the patients had systemic features, including hearing loss (40%), retinal abnormalities (37%) and developmental delay (8%). We found an inverse correlation between repeat size and disease severity, similar to adult-onset FSHD. De novo FSHD1 mutations were more prevalent than in adult-onset FSHD. Compared to adult FSHD, our findings indicate that early onset FSHD is overall characterized by a more severe muscle phenotype and a higher prevalence of systemic features. However, similar as in adults, a significant clinical heterogeneity was observed. Based on this, we consider early onset FSHD to be on the severe end of the FSHD disease spectrum. We found natural history studies and treatment studies to be very scarce in early onset FSHD, therefore longitudinal studies are needed to improve prognostication, clinical management and trial-readiness.

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Section: Discussionmentioning

confidence: 99%

Early onset facioscapulohumeral dystrophy – a systematic review using individual patient data

Goselink

Voermans

Okkersen

et al. 2017

Neuromuscular Disorders

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“…Notably, the identification of non-FSHD signs in DRA carriers (category D) might serve as a proxy indicator of the co-presence of other genetic defects or modulators and requires additional studies and gene testing as indicated by the numerous cases reporting the association of FSHD with other neuromuscular conditions reviewed by Refs. [35][36][37][38][39][40][41][42][43][44][45][46][47]. Finally, asymptomatic/healthy carriers of 4-10 RU D4Z4 alleles, classified as Category C, stay asymptomatic/healthy in 79.1% of cases over the 5-year period.…”

Section: Discussionmentioning

confidence: 99%

A 5-year clinical follow-up study from the Italian National Registry for FSHD

et al. 2020

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Background The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined. Methods An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was measured as a variation of the FSHD score performed at baseline and at the end of 5-year follow-up (ΔFSHD score). Findings Disease worsened in 79.4% (112/141) of index cases versus 38.1% (40/105) of carrier relatives and advanced more rapidly in index cases (ΔFSHD score 2.3 versus 1.2). The 79.1% (38/48) of asymptomatic carriers remained asymptomatic. The highest ΔFSHD score (1.7) was found in subject with facial and scapular weakness at baseline (category A), whereas in subjects with incomplete phenotype (facial or scapular weakness, category B) had lower ΔFSHD score (0.6) p < 0.0001. Conclusions The progression of disease is different between index cases and carrier relatives and the assessment of the CCEF categories has strong prognostic effect in FSHD1 patients.

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“…30 Rarely, features resembling Mobius syndrome with ophthalmoplegia have been described. 31,32 Additional manifestations, such as retinal vasculopathy, 33 intellectual disability, epilepsy, 34 and cochlear dysfunction, 35 are more common among individuals with early-onset FSHD and large D4Z4 deletions. On occasion, these extramuscular features may be the initial presenting complaints, and thus, are particularly noteworthy for pediatric neurologists as potentially early signs of FSHD.…”

Section: Early-onset Fshdmentioning

confidence: 99%

A Pediatric Review of Facioscapulohumeral Muscular Dystrophy

Mah

Chen

2017

J Pediatr Neurol

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Facioscapulohumeral dystrophy is one of the most common forms of muscular dystrophies worldwide. It is a complex and heterogeneous disease secondary to insufficient epigenetic repression of D4Z4 repeats and aberrant expression of DUX4 in skeletal muscles. Type 1 facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of D4Z4 repeats on 4q35, whereas type 2 FSHD is associated with mutations of the SMCHD1 or DNMT3B gene in the presence of a disease-permissive 4qA haplotype. Classical FSHD is a slowly progressive disorder with gradual-onset of muscle atrophy and a descending pattern of muscle weakness. In contrast, early-onset FSHD is associated with a large deletion of D4Z4 repeats and a more severe disease phenotype, including early loss of independent ambulation as well as extramuscular manifestations, such as retinal vasculopathy, hearing loss, and central nervous system (CNS) involvement. However, the correlation between D4Z4 repeats and disease severity remains imprecise. The current standard of care guidelines offers comprehensive assessment and symptomatic management of secondary complications. Several clinical trials are currently underway for FSHD. New and emerging treatments focus on correcting the transcriptional misregulation of D4Z4 and reversing the cytotoxic effects of DUX4. Other potential therapeutic targets include reduction of inflammation, improving muscle mass, and activating compensatory molecular pathways. The utility of disease-modifying treatments will depend on selection of sensitive clinical endpoints as well as validation of muscle magnetic resonance imaging (MRI) and other biomarkers to detect meaningful changes in disease progression. Correction of the epigenetic defects using new gene editing as well as other DUX4 silencing technologies offers potential treatment options for many individuals with FSHD.

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Atypical facet of Möbius syndrome: Association with facioscapulohumeral muscular dystrophy

Cited by 7 publications

References 12 publications

Early onset facioscapulohumeral dystrophy – a systematic review using individual patient data

Early onset facioscapulohumeral dystrophy – a systematic review using individual patient data

A 5-year clinical follow-up study from the Italian National Registry for FSHD

A Pediatric Review of Facioscapulohumeral Muscular Dystrophy

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