Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

Trevisan, Carlo P.; Pastorello, Ebe; Armani, Mario; Angelini, C.; Nante, Giovanni; Tomelleri, Giuliano; Tonin, Paola; Mongini, Tiziana; Palmucci, L.; Galluzzi, G.; Tupler, Rossella; Barchitta, Agata

doi:10.1159/000094248

Cited by 64 publications

(43 citation statements)

References 34 publications

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“…Previous cardiologic assessment in the majority of the patients included in the present investigation has been described earlier [18].…”

Section: Resultsmentioning

confidence: 99%

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Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy

Pastorello¹,

Cao²,

Trevisan³

2012

Clinical Neurology and Neurosurgery

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IntroductionFacioScapuloHumeral Muscular Dystrophy (FSHD), a disease linked to a heterozygous D4Z4 deletion on chromosome 4q35, typically starts with shoulder-girdle and facial muscle involvement. Atypical presentations have occasionally been reported, but their frequency has still not been defined.Patients and methodsWe studied the occurrence rate of FSHD with atypical onset in 122 symptomatic subjects from 76 unrelated families with genetically confirmed FSHD. These 75 males and 47 females, with a mean age of 49 years (range: 11–85), had a mean EcoRI fragment of 25 kb (range: 11–38).ResultsTypical shoulder-girdle or facial weakness at onset was reported by 88 patients (72%). Unusual presentations included: foot drop in 16 (13%) and proximal lower limb weakness in eight patients (7%). Two cases at onset manifested quite atypical, apparently non-FSHD-related syndromes: a 42-year-old woman presented with infantile epilepsy and a 41-year-old man with myoglobinuria. In the latter patient, DNA analysis detected a 4q35 deletion associated to an heterozygous CAPN3 mutation.ConclusionFSHD presentation with foot drop or lower limb proximal weakness appeared to be more frequent than expected. This type of weakness at onset has to be considered premature, but still representative of disease-related muscle involvement. Quite atypical onset appears very rare and calls for further investigation on non-FSHD-related etiology.

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“…Previous cardiologic assessment in the majority of the patients included in the present investigation has been described earlier [18].…”

Section: Resultsmentioning

confidence: 99%

“…cAs previously described [18], the FSHD Weakness Scale ranges from 0 (no weakness) to VII (maximal weakness).…”

Section: Tablementioning

confidence: 99%

Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy

Pastorello¹,

Cao²,

Trevisan³

2012

Clinical Neurology and Neurosurgery

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“…The different clinical manifestations of FSHD include the well-known heterogeneous muscular deficit and the variable presence of any audiological, ocular or cardiac involvement [Brouwer et al, 1991;Padberg et al, 1995;Fitzsimons, 1999;Tawil and Van der Maarel, 2006;Trevisan et al, 2006]. A genotype-phenotype correlation somehow appears to be established for the muscular impairment, with evidence that the larger the 4q35 deletion, the severer the muscular weakness and its clinical course [Ricci et al, 1999;Fitzsimons, 1999;Tawil and Van der Maarel, 2006].…”

Section: Discussionmentioning

confidence: 99%

“…Onset of the muscular disturbance was between 6 and 40 years of age (mean 19). The entity of the muscular involvement was determined for each patient by a 7-grade scale [Trevisan et al, 2006], which measures the strength ability of both upper and lower limb muscles. As shown in table 1 , the scores on this weakness scale range from 0 (no muscle deficit) to 7 (profound weakness).…”

Section: Methodsmentioning

confidence: 99%

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

et al. 2007

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Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant progressive myopathy, characteristically associated with a 4q35 deletion. In the unusual infantile-onset form of this degenerative disease, sensorineural hearing loss is a frequent clinical manifestation, whereas in patients with typical late-onset FSHD, investigations regarding hearing impairment yielded controversial results. We describe the findings of a multicenter investigation on possible auditory impairment in a series of 73 FSHD patients with a genetically confirmed diagnosis. Among them, 49 cases with no risk factors for deafness, aside from the disease, were identified by a clinical questionnaire and otoscopic examination (mean age 37.8 years, 31 males and 18 females). These subjects were evaluated by pure-tone audiometry. None were aware of hearing loss, while 4 had raised unilateral or bilateral pure-tone audiometric thresholds at 4000 and 8000 Hz, when evaluated by standardized tables. However, the mean raw pure-tone audiometric threshold values for these 49 cases were not significantly different from those of 55 controls (mean age 37.1 years, 32 males and 23 females). Moreover, by statistical analysis, age of onset, degree of muscular weakness and 4q35 EcoRI fragment size made no significant difference to auditory thresholds in our FSHD patients. Overall, the results of our multicenter study suggest that hearing loss in typical FSHD is not more prevalent than in the normal population.

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“…111 In facioscapulohumeral muscular dystrophy, arrhythmias are rare, with the most common being supraventricular tachycardia. 112 Histologically, the tissue composition may vary substantially, including all EHRAS classes (see Table 2). …”

Section: Pathology Of Atrial Cardiomyopathiesmentioning

confidence: 99%