Muscle MRI findings in limb girdle muscular dystrophy type 2L

Sárközy, Anna; Deschauer, Marcus; Carlier, Robert‐Yves; Schrank, Bertold; Seeger, Jürgen; Walter, Maggie C.; Schöser, Benedikt; Reilich, Peter; Leturq, France; Radunović, Aleksandar; Béhin, Anthony; Laforêt, Pascal; Eymard, B.; Schreiber, Herbert; Hicks, Debbie; Vaidya, Sujit; Gläser, Dieter; Carlier, Pierre; Bushby, Kate; Lochmüller, Hanns; Straub, Volker

doi:10.1016/j.nmd.2012.05.012

Cited by 78 publications

(57 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Finally, in agreement with previous studies, axial muscles and in particular long thoracic muscles in TPM2 -mutated patients [31] were predominantly involved in the adult congenital myopathy patients studied with our protocol and, together with subscapularis, also in AMD [32], [33]. Asymmetries, common in FSHD, were less common the control cohort with the exception of female carriers of dystrophinopathy [1] and LGMD2L [34], but the patterns of upper girdle involvement are clearly different between these diseases and FSHD (Table S2). Further data on upper girdle imaging of other myopathies is needed to better characterize their spectrum and pattern, which appears to be characteristic for some of them, and to confirm that there are no overlaps with FSHD.…”

Section: Discussionsupporting

confidence: 91%

Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy

Tasca

Monforte²,

Iannaccone³

et al. 2014

PLoS ONE

View full text Add to dashboard Cite

BackgroundIn Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination. Our aim was to evaluate the pattern and degree of involvement of upper girdle muscles in FSHD compared with other muscle diseases with scapular girdle impairment.MethodsWe propose an MRI protocol evaluating neck and upper girdle muscles. One hundred-eight consecutive symptomatic FSHD patients and 45 patients affected by muscular dystrophies and myopathies with prominent upper girdle involvement underwent this protocol. Acquired scans were retrospectively analyzed.ResultsThe trapezius (100% of the patients) and serratus anterior (85% of the patients) were the most and earliest affected muscles in FSHD, followed by the latissimus dorsi and pectoralis major, whilst spinati and subscapularis (involved in less than 4% of the patients) were consistently spared even in late disease stages. Asymmetry and hyperintensities on short-tau inversion recovery (STIR) sequences were common features, and STIR hyperintensities could also be found in muscles not showing signs of fatty replacement. The overall involvement appears to be disease-specific in FSHD as it significantly differed from that encountered in the other myopathies.ConclusionsThe detailed knowledge of single muscle involvement provides useful information for correctly evaluating patients' motor function and to set a baseline for natural history studies. Upper girdle imaging can also be used as an additional tool helpful in supporting the diagnosis of FSHD in unclear situations, and may contribute with hints on the currently largely unknown molecular pathogenesis of this disease.

show abstract

Section: Discussionsupporting

confidence: 91%

Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy

Tasca

Monforte²,

Iannaccone³

et al. 2014

PLoS ONE

View full text Add to dashboard Cite

show abstract

“…To date, 67 variants (35 pathogenic; http://www.lovd.nl/ANO5) have been detected all over the ANO5 gene, with one a common mutation (c.191dupA) in exon 5, likely the result of a founder effect of Northern European origin [Hicks et al, ], and another in exon 20 (c.2272C>T) more frequent in the Finnish population [Penttilä et al, ]. Early clinical and MRI studies indicated wide clinical heterogeneity and a gender difference in expression, with anoctaminopathies appearing to be less frequent and less severe in females [Sarkozy et al, ].…”

Section: Introductionmentioning

confidence: 99%

ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

et al. 2013

Self Cite

View full text Add to dashboard Cite

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes, by screening 205 undiagnosed patients referred to our molecular service with a clinical suspicion of anoctaminopathy. A total of 42 unrelated patients had two ANO5 mutations (21%), whereas 14 carried a single change. We identified 34 pathogenic changes, 15 of which are novel. The c.191dupA mutation represents 61% of mutated alleles and appears to be less prevalent in non-Northern European populations. Retrospective clinical analysis corroborates the prevalently proximal lower limb phenotype, the male predominance and absence of major cardiac or respiratory involvement. Identification of cases with isolated hyperCKaemia and very late symptomatic male and female subjects confirms the extension of the phenotypic spectrum of the disease. Anoctaminopathy appears to be one of the most common adult muscular dystrophies in Northern Europe, with a prevalence of about 20%-25% in unselected undiagnosed cases.

show abstract

“…Clinical diagnosis of LGMD2A is somewhat challenging because the symptoms can be easily confused with other muscular dystrophies, such as facioscapulohumeral muscular dystrophy (FSHD), Becker muscular dystrophy (BMD), and other subtypes of LGMD type 2. Muscle magnetic resonance imaging (MRI), although not a routine diagnostic tool for muscular dystrophy, was recently highlighted as a useful method for LGMD2A, which may guide the subsequent genetic analysis . In addition, MRI may aid in disease monitoring of LGMD2A noninvasively.…”

mentioning

confidence: 99%