Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions

Trevisan, Carlo P.; Pastorello, Ebe; Tomelleri, Giuliano; Vercelli, Liliana; Bruno, Claudio; Scapolan, Sara; Siciliano, Gabriele; Comacchio, Francesco

doi:10.1111/j.1468-1331.2008.02314.x

Cited by 48 publications

(49 citation statements)

References 29 publications

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“…The hypothesis that central nervous system signs present later in life is unlikely attributed to the suspected underlying genetic mechanisms 11, 50. The most likely explanation for the discrepancy with previous studies on early‐onset FSHD8, 11, 13 is selection and publication bias of the published cases.…”

Section: Discussionmentioning

confidence: 85%

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

Goselink

Schreuder

Alfen

et al. 2018

Annals of Neurology

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ObjectiveFacioscapulohumeral dystrophy (FSHD) is one of the most frequent heritable muscular dystrophies, with a large variety in age at onset and disease severity. The natural history and molecular characteristics of FSHD in childhood are incompletely understood. Our objective is to clinically and genetically characterize FSHD in childhood.MethodsWe performed a nationwide, single‐investigator, natural history study on FSHD in childhood.ResultsMultiple‐source recruitment resulted in 32 patients with FSHD (0–17 years), leading to an estimated prevalence of 1 in 100,000 children in The Netherlands. This series of 32 children with FSHD revealed a heterogeneous phenotype and genotype in childhood. The phenotypic hallmarks of FSHD in childhood are: facial weakness with normal or only mildly affected motor performance, decreased functional exercise capacity (6‐minute walk test), lumbar hyperlordosis, and increased echo intensity on muscle ultrasonography. In addition, pain and fatigue were frequent and patients experienced a lower quality of life compared to healthy peers. In contrast to the literature on early‐onset FSHD, systemic features such as hearing loss and retinal and cardiac abnormalities were infrequent and subclinical, and epilepsy and intellectual disability were absent. Genotypically, patients had a mean D4Z4 repeat array of 5 units (range, 2–9), and 14% of the mutations were de novo.InterpretationFSHD in childhood is more prevalent than previously known and the genotype resembles classic FSHD. Importantly, FSHD mainly affects functional exercise capacity and quality of life in children. As such, these results are paramount for counseling, clinical management, and stratification in clinical research. Ann Neurol 2018;84:635–645

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Section: Discussionmentioning

confidence: 85%

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

Goselink

Schreuder

Alfen

et al. 2018

Annals of Neurology

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“…Furthermore, a milder affection of female FSHD patients was proposed [3] as it can also be seen in the sisters of patient 2 in this study. Considering cases with a fragment size of 10-11 kb, FSHD appears to be associated with mental retardation and possibly with epilepsy [41].…”

Section: Discussionmentioning

confidence: 99%

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

Reilich¹,

Schramm

Schöser³

et al. 2010

J Neurol

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Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variable clinical phenotypes even within the same family. Most genetically confirmed FSHD patients exhibit unspecific morphological signs of a degenerative myopathy. We report on five unrelated patients who carried the pathogenic FSHD mutation on chromosome 4q35. Muscle biopsies revealed numerous rimmed vacuoles and filamentous cytoplasmic inclusions in all cases. Clinically, the patients suffered from weakness and atrophy predominantly of the lower limb muscles. In conclusion, we suggest considering FSHD in the differential diagnosis of adult-onset distal myopathies with rimmed vacuoles.

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“…9, 13, 14 High frequency hearing loss is reported in approximately half of FSHD patients; however symptomatic hearing loss resulting in the need for hearing aids is almost exclusively seen in patients with the largest D4Z4 deletions. 8, 15 …”

Section: Clinical Findingsmentioning

confidence: 99%

Facioscapulohumeral Muscular Dystrophy

Statland

Tawil

2014

Neurologic Clinics

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Facioscapulohumeral muscular dystrophy (FSHSD) is one of the most common adult muscular dystrophies and is divided into types 1 and 2 based on genetic mutation. Clinically both FSHD types 1 and 2 demonstrate often asymmetric and progressive muscle weakness affecting initially the face, shoulder, and arms, followed by the distal and then proximal lower extremities later in the disease course. Approximately 95% of patients, termed FSHD1, have a deletion of a key number of repetitive elements on chromosome 4q35. The remaining 5%, termed FSHD2, have no deletion on chromosome 4q35. Nevertheless, both FSHD types 1 and 2 share a common downstream mechanism making it possible that future disease-directed therapies will be effective for both FSHD types 1 and 2.

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Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions

Abstract: Hearing loss represents a characteristic feature of FSHD patients with a large 4q35 deletion. Moreover, when considering only cases with 10-11 kb, it appears to be associated with early-onset dystrophic phenotype, with mental retardation (92%) and possibly with epilepsy (58%).

Cited by 48 publications

References 29 publications

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

Facioscapulohumeral Muscular Dystrophy

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