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

Reilich, Peter; Schramm, Nicolai; Schöser, Benedikt; Schneiderat, Peter; Strigl-Pill, N.; Müller‐Höcker, Josef; Kreß, Wolfram; Ferbert, A.; Rudnik‐Schöneborn, Sabine; Noth, Johannes; Lochmüller, Hanns; Weis, Joachim; Walter, Maggie C.

doi:10.1007/s00415-010-5471-1

Cited by 25 publications

(20 citation statements)

References 43 publications

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“…Posterior leg muscles have been described as clinically relatively spared in FSHD [38] or to be affected only in later stages of the disease [40]. However, it has previously been shown by MRI that hamstrings and semimembranosus and gastrocnemius muscles seem to be typically involved in FSHD [16,31,32]. This is consistent with our study (Table 2).…”

Section: Discussionsupporting

confidence: 95%

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

et al. 2010

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Recently it has been postulated that there is an atypical facioscapulohumeral muscular dystrophy (FSHD) phenotype with isolated axial myopathy. Involvement of paraspinal and limb muscles was evaluated in six patients with molecularly proven FSHD and a predominant bent spine phenotype. Consistent with the camptocormia phenotype, the most severely affected muscles in all six patients were the thoracic and lumbar spinal tract together with hamstrings. MRI disclosed severe axial muscle degeneration but mostly subclinical involvement of limb muscles. The involvement of hip extensor muscles in FSHD might considerably contribute to the clinical phenotype of camptocormia due to axial muscle involvement.

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Section: Discussionsupporting

confidence: 95%

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

et al. 2010

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“…Our findings are in good agreement with the results of Olsen et al [16] who reported a significant correlation between muscle strength and fatty MRI degeneration in the hip and thigh muscles, including MRI affection of some leg muscles despite normal function on manual testing. Reilich et al [13] found no such clear pattern in a small cohort of FSHD patients. Olsen's study included only the hip and thigh muscles with axial and discontinuous slice acquisition.…”

Section: Other Correlationsmentioning

confidence: 99%

“…FSHD appears to be a generalised muscle dystrophy instead, with variable patterns of muscle involvement. Correspondingly, Reilich et al [13] proposed to consider FSHD as a spectrum disorder, especially when histopathology shows vacuolar myopathy. Tasca et al [34] proposed a disease-specific pattern of muscular affection in FSHD.…”

Section: Other Correlationsmentioning

confidence: 99%

“…However, clinical presentation in individual patients varies widely comprising atypical or asymmetric features [13,14]. Involvement of the abdominal or paraspinal muscles is common and sometimes pronounced [11,15].…”

mentioning

confidence: 99%

“…Besides genetic testing, imaging techniques such as ultrasonography, computed tomography (CT) or magnetic resonance imaging (MRI) have emerged to visualise structural and metabolic muscle pathologies as well in the extremities as in the deeper or trunk muscles [11,13,[16][17][18][19][20][21]. Olsen et al [16] reported widespread involvement of the hip girdle and leg muscles in FSHD and found a strong correlation of muscle weakness with MRI changes.…”

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confidence: 99%

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Clinical Muscle Testing Compared with Whole-Body Magnetic Resonance Imaging in Facio-scapulo-humeral Muscular Dystrophy

et al. 2015

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Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy

Ruggiero¹,

Mele

Manganelli³

et al. 2020

JAMA Netw Open

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IMPORTANCE Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disorder, associated with the deletion of tandemly arrayed D4Z4 repetitive elements. The extensive use of molecular analysis of the D4Z4 locus for FSHD diagnosis has revealed wide clinical variability, suggesting that subgroups of patients exist among carriers of the D4Z4 reduced allele (DRA). OBJECTIVE To investigate the clinical expression of FSHD in the genetic subgroup of carriers of a DRA with 7 to 8 repeat units (RUs). DESIGN, SETTING, AND PARTICIPANTS This multicenter cross-sectional study included 422 carriers of DRA with 7 to 8 RUs (187 unrelated probands and 235 relatives) from a consecutive sample of 280 probands and 306 relatives from the Italian National Registry for FSHD collected between 2008 and 2016. Participants were evaluated by the Italian Clinical Network for FSHD, and all clinical and molecular data were collected in the Italian National Registry for FSHD database. Data analysis was conducted from January 2017 to June 2018. MAIN OUTCOMES AND MEASURES The phenotypic classification of probands and relatives was obtained by applying the Comprehensive Clinical Evaluation Form which classifies patients in the 4 following categories: (1) participants presenting facial and scapular girdle muscle weakness typical of FSHD (category A, subcategories A1-A3), (2) participants with muscle weakness limited to scapular girdle or facial muscles (category B, subcategories B1 and B2), (3) asymptomatic or healthy participants (category C, subcategories C1 and C2), and (4) participants with myopathic phenotypes presenting clinical features not consistent with FSHD canonical phenotype (category D, subcategories D1 and D2). RESULTS A total of 187 probands (mean [SD] age at last neurological examination, 53.5 [15.2] years; 103 [55.1%] men) and 235 relatives (mean [SD] age at last neurologic examination, 45.1 [17.0] years; 104 [44.7%] men) with a DRA with 7 to 8 RUs and a molecular diagnosis of FSHD were evaluated. Of 187 probands, 99 (52.9%; 95% CI, 45.7%-60.1%) displayed the classic FSHD phenotype, whereas 86 (47.1%; 95% CI, 39.8%-54.3%) presented incomplete or atypical phenotypes. Of 235 carrier relatives from 106 unrelated families, 124 (52.8%; 95% CI, 46.4%-59.7%) had no motor impairment, whereas a small number (38 [16.2%; 95% CI, 9.8%-23.1%]) displayed the classic FSHD phenotype, and 73 (31.0%; 95% CI, 24.7%-38.0%) presented with incomplete or atypical phenotypes. In 37 of 106 families (34.9%; 95% CI, 25.9%-44.8%), the proband was the only participant presenting with a myopathic phenotype, while only 20 families (18.9%; 95% CI, 11.9%-27.6%) had a member with autosomal dominant FSHD.

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

Cited by 25 publications

References 43 publications

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

Clinical Muscle Testing Compared with Whole-Body Magnetic Resonance Imaging in Facio-scapulo-humeral Muscular Dystrophy

Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy

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