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

Regula, Jens Ulrich; Jestaedt, Leonie; Jende, F.; Bartsch, Andreas J.; Meinck, Hans‐Michael; Weber, Marc‐André

doi:10.1007/s00062-015-0386-y

Cited by 19 publications

(11 citation statements)

References 36 publications

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“…68,69 In most patients (95%), it is inherited as an autosomal dominant trait, caused by a contracted D4Z4 microsatellite array on the subtelomeric region of chromosome 4q, associated with DUX4 gene encoding. 70,71 FSHD is a slowly progressive disorder. The condition is characterized by asymmetric loss of strength and atrophy of muscular tissue starting in the face and shoulder region, usually with associated scapular winging.…”

Section: Limb-girdle Muscular Dystrophiesmentioning

confidence: 99%

“…Involvement of the abdominal or paravertebral muscles is common. 71,72 Muscle imaging focused on the lower limbs shows early and severe involvement of the hamstrings and adductors as well as the tibialis anterior and gastrocnemius medialis. Early severe involvement of the trapezius and serratus anterior with progression to pectoralis, latissimus dorsi, and rectus abdominis fatty infiltration is seen.…”

Section: Limb-girdle Muscular Dystrophiesmentioning

confidence: 99%

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Advanced MRI Patterns of Muscle Disease in Inherited and Acquired Myopathies: What the Radiologist Should Know

Caetano

Alves

2019

Semin Musculoskelet Radiol

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Myopathies represent a heterogeneous group of skeletal muscle disorders characterized by morphological and functional changes in the muscle, such as replacement of muscle tissue by connective tissue, fatty infiltration, and/or inflammation. They can be classified as hereditary, acquired idiopathic, and secondary myopathies.Diagnosis of hereditary and acquired myopathies is challenging, with often overlapping clinical and pathologic features, and it generally relies on a multimodal approach. Current imaging modalities used in neuromuscular imaging include computed tomography, ultrasound, and magnetic resonance imaging (MRI).Topographical patterns of muscle involvement have been described for several myopathies, and they can be identified using whole-body MRI. Indeed, this technique has proven to be an invaluable tool for diagnostic work-up, guidance of muscle biopsy, and biochemical and genetic investigation, as well as disease monitoring and follow-up.

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Section: Limb-girdle Muscular Dystrophiesmentioning

confidence: 99%

Section: Limb-girdle Muscular Dystrophiesmentioning

confidence: 99%

Advanced MRI Patterns of Muscle Disease in Inherited and Acquired Myopathies: What the Radiologist Should Know

Caetano

Alves

2019

Semin Musculoskelet Radiol

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“…15 The detection of subclinical disease progression, especially for those muscles that are not easily accessible for clinical examination, the monitoring of the natural history of disease, and overseeing potential therapeutic effects by using qMR imaging may be especially valuable in clinical trials. 16 In addition to conventional MRI, qMR imaging techniques are increasingly involved in the quantification of muscle disease burden. The reliable fat quantification is crucial for diseasemonitoring purposes.…”

Section: Conventional Magnetic Resonance Imagingmentioning

confidence: 99%

Imaging Patterns of Muscle Atrophy

Weber

Wolf

Wattjes

2018

Semin Musculoskelet Radiol

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The role of muscle imaging in the diagnosis of inherited and acquired muscle diseases has gained clinical relevance. In particular, magnetic resonance imaging (MRI) is increasingly being used for diagnostic purposes, especially with its capability of whole-body musculature assessment. The assessment and quantification of muscle involvement in muscle diseases can be of diagnostic value by identifying a certain involvement pattern and thus narrowing the differential diagnosis and supporting the clinical diagnosis. In addition, more recently the role of imaging has gone beyond diagnostic purposes and includes disease as well as treatment monitoring. Conventional and quantitative muscle MRI techniques allow for the detection of subclinical disease progression (e.g., in muscular dystrophies) and is a powerful surrogate outcome measure in clinical trials. We present and discuss recent data on the role of conventional and quantitative MRI in the diagnosis and monitoring of inherited dystrophic muscle diseases as well as muscle denervation.

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“…In most of the MRI studies conducted in FSHD patients, fat infiltration of the investigated muscles has been evaluated visually using the common ordinal scales including 4 to 5 grades [21][22][23][24][25][26]. In these studies muscles from upper limbs [21], lower limbs [22], both upper and lower limbs [23], or from the whole body have been investigated [24][25][26].…”

Section: Introductionmentioning

confidence: 99%

“…In these studies muscles from upper limbs [21], lower limbs [22], both upper and lower limbs [23], or from the whole body have been investigated [24][25][26]. Although this qualitative scoring is of interest to determine the pattern of muscle involvement, it has been largely recognized as subjective, reader-dependent and lacking sensitivity due to the limited number of grading possibilities.…”

Section: Introductionmentioning

confidence: 99%

Long-term follow-up of MRI changes in thigh muscles of patients with facioscapulohumeral dystrophy: a quantitative study

Salort‐Campana

Fatehi

Troter

et al. 2017

Neuromuscular Disorders

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Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary muscular disorders. Currently FSHD has no known effective treatment and detailed data on the natural history are lacking. Determination of the efficacy of a given therapeutic approach might be difficult in FSHD given the slow and highly variable disease progression. Magnetic resonance imaging (MRI) has been widely used to qualitatively and quantitatively evaluate in vivo the muscle alterations in various neuromuscular disorders. The main aim of the present study was to investigate longitudinally the time-dependent changes occurring in thigh muscles of FSHD patients using quantitative MRI and to assess the potential relationships with the clinical findings. Thirty-five FSHD1 patients (17 females) were enrolled. Clinical assessment tools including manual muscle testing using medical research council score (MRC), and motor function measure (MFM) were recorded each year for a period ranging from 1 to 2 years. For the MRI measurements, we used a new quantitative index, i.e., the mean pixel intensity (MPI) calculated from the pixel-intensity distribution in T1 weighted images. The corresponding MPI scores were calculated for each thigh, for each compartment and for both thighs totally (MPI total ). The total mean pixel intensity (MPI total ) refers to the sum of each pixel signal intensity divided by the corresponding number of pixels. An increased MPI total indicates both a raised fat infiltration together with a reduced muscle volume thereby illustrating disease progression. Clinical scores did not change significantly over time whereas MPI total increased significantly from an initial averaged value of 39.6 to 41.1 with a corresponding rate of 0.62/year. While clinical scores and MPI total measured at the start of the study were significantly related, no correlation was found between the rate of MPI total and MRC sum score changes, MFM total and MFM subscores. MPI total change was 2.3% (0.5-4.3)/year and was significantly higher than the corresponding rates measured for MRCS 0% (0-1.7) /year and MFM total 0% (0-2.0) /year (p = 0.000).On the basis of these results, we suggested that muscle MRI and more particularly the MPI total index could be used as a reliable biomarker and outcome measure of disease progression. In slowly progressive myopathies such as FSHD, the MPI total index might reveal subclinical changes, which could not be evidenced using clinical scales over a short period of time.

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

Cited by 19 publications

References 36 publications

Advanced MRI Patterns of Muscle Disease in Inherited and Acquired Myopathies: What the Radiologist Should Know

Advanced MRI Patterns of Muscle Disease in Inherited and Acquired Myopathies: What the Radiologist Should Know

Imaging Patterns of Muscle Atrophy

Long-term follow-up of MRI changes in thigh muscles of patients with facioscapulohumeral dystrophy: a quantitative study

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