Drug treatment for facioscapulohumeral muscular dystrophy

Rose, Michael R.; Tawil, Rabi

doi:10.1002/14651858.cd002276.pub2

Cited by 27 publications

(6 citation statements)

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“…A randomized double blind, cross-over study in 32 patients (12 FSHD) showed a significant positive effect on muscle strength and activity scores for the group as a whole [72]; analysis of the FSHD patients only revealed no positive effects. However, this study was deemed too small and too short for firm conclusions [73]. Similarly, a 12 weeks, aerobic training programme on a cycle ergometer at a heart rate corresponding to a work at 65 % of VO2-max in 8 FSHD patients showed no adverse affects on quadriceps histology.…”

Section: Accepted Manuscriptmentioning

confidence: 83%

Facioscapulohumeral muscular dystrophy

Padberg

Engelen

2009

Current Opinion in Neurology

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Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e. at chromosome 4q) or global (genome-wide) and there is evidence for both scenarios. Currently, there is no therapy for FSHD, mostly because of our lack of understanding of the primary pathogenic process in FSHD muscle. Clinical trials based on suppression of inflammatory reactions or increasing muscle mass by drugs or training have been disappointing. A recent, probably the first evidence-based pilot trial to revert epigenetic changes did also not provide grounds for a larger clinical study. Clearly, better disease models need to be developed to identify and test novel intervention strategies to eventually improve the quality of life for patients with FSHD. A C C E P T E D M A N U S C R I P T ACCEPTED MANUSCRIPT Clinical featuresPatients usually present with symptoms related to weakness of the scapula-fixators; rarely do they report onset of the disease in the facial, foot-extensor or pelvic girdle muscles. Shoulder Contractures are rare with exception of ankle contractures. A subclinical high tone hearing loss and a subclinical retinal vasculopathy have been described as part of the disease [7,8]. A C C E P T E D M A N U S C R I P T ACCEPTED MANUSCRIPTRarely, and almost exclusively in early onset disease, they become symptomatic.Early, i.e. infantile, onset has in the past been thought of as an independent entity but has turned out to be the more severe end of the clinical spectrum with usually small residual D4Z4 repeat sizes (see genetic defect), while the other end of the spectrum reveals often minimally to mildly affected patients with probably more frequently non-penetrant gene carriers in these families.The characteristics of FSHD often lie in subtle signs when a physician is confronted with a patient with a facio-scapulo-humeral syndrome. But the rarity of the disorders in the differential diagnosis make that FSHD should be considered first [2]. Genetic diagnostics is recommended as the first step and, only when FSHD has been ruled out, family examination, EMG and muscle biopsy are indicated. become apparent that there are many complications to this relative straightforward diagnosis of FSHD, which we will briefly discuss below. A C C E P T E D M A N U S C R I P T ACCEPTED MANUSCRIPTFirst, it was shown that an almost identical and equally polymorphic repeat resides in the subtelomere of chromosome 10q as a result of an ancient duplication [19,20]. Repeat contractions on chromosome 10q are non-pathogenic [21,22]. Second, apparent unconstrained exchanges between repeat units on both chromosomes can be encountered in the population and although generally the precise allele constitution for all chromosomes 4 and 10 can be precisely defined, even for the most complicated repeat exchanges, it needs sophisticated In addition t...

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Section: Accepted Manuscriptmentioning

confidence: 83%

Facioscapulohumeral muscular dystrophy

Padberg

Engelen

2009

Current Opinion in Neurology

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“…Este signo es también observado en otras patologías neurológicas, incluidas otras miopatías 23 . Se ha ensayado el uso de clenbuterol y anabólicos en la DMFEH que produciría un aumento de la masa muscular, pero esto no se asocia a un mejor desempeño funcional o incluso de la fuerza, por lo tanto, no fueron usados en nuestros pacientes [24][25][26] .…”

Section: Discussionunclassified

Distrofia muscular facioescapulohumeral en Chile: presentación de serie en hospital de referencia terciario

Cea

Jiménez

2015

Rev. méd. Chile

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“…Nenhum deles mostrou melhora nos sintomas, tampouco impediu a progressão da doença (5) . Acredita-se que o melhor tratamento atualmente é cirúrgico, mas a grande dificuldade é determinar qual o melhor momento para sua realização.…”

Section: Discussionunclassified