Muscle imaging in inherited and acquired muscle diseases

Dam, Leroy ten; Kooi, Anneke J. van der; Verhamme, Camiel; Wattjes, Mike P.; Visser, Marjolein

doi:10.1111/ene.12984

Cited by 54 publications

(26 citation statements)

References 113 publications

(177 reference statements)

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“…Recent reviews of studies that use these scoring systems have highlighted several important concepts . First, different types of muscular dystrophy can show highly selective patterns of muscle involvement and sparing (Fig.…”

Section: Evaluating Intramuscular Fatmentioning

confidence: 99%

Advancements in magnetic resonance imaging‐based biomarkers for muscular dystrophy

Leung

2019

Muscle and Nerve

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Recent years have seen steady progress in the identification of genetic muscle diseases as well as efforts to develop treatment for these diseases. Consequently, sensitive and objective new methods are required to identify and monitor muscle pathology. Magnetic resonance imaging offers multiple potential biomarkers of disease severity in the muscular dystrophies. This Review uses a pathology‐based approach to examine the ways in which MRI and spectroscopy have been used to study muscular dystrophies. Methods that have been used to quantitate intramuscular fat, edema, fiber orientation, metabolism, fibrosis, and vascular perfusion are examined, and this Review describes how MRI can help diagnose these conditions and improve upon existing muscle biomarkers by detecting small increments of disease‐related change. Important challenges in the implementation of imaging biomarkers, such as standardization of protocols and validating imaging measurements with respect to clinical outcomes, are also described.

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Section: Evaluating Intramuscular Fatmentioning

confidence: 99%

Advancements in magnetic resonance imaging‐based biomarkers for muscular dystrophy

Leung

2019

Muscle and Nerve

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“…In the last years, evidence is accumulating on the usefulness of muscle imaging in defining specific patterns of muscle involvement in inherited muscle diseases to help clinicians in the diagnostic workup [5–7]. Globally, metabolic myopathies have not yet been widely investigated and most of the studies concern Pompe Disease, which present a characteristic pattern of muscle involvement [8–10].…”

Section: Introductionmentioning

confidence: 99%

Muscle MRI in neutral lipid storage disease (NLSD)

et al. 2017

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Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles. Gracilis, sartorius, subscapularis, pectoralis, triceps brachii and sternocleidomastoid were spared. Muscle involvement was not homogenous and characteristic “patchy” replacement was observed in at least one muscle in all the patients. Half of the patients showed one or more STIR positive muscles. In both NLSD-I cases muscle involvement was not observed by T1-TSE sequences, but one of them showed positive STIR images in more than one muscle in the leg. Our data provides evidence that muscle imaging can identify characteristic alterations in NLSD-M, characterized by a specific pattern of muscle involvement with “patchy” areas of fatty replacement. Larger cohorts are needed to assess if a distinct pattern of muscle involvement exists also for NLSD-I.Electronic supplementary materialThe online version of this article (doi:10.1007/s00415-017-8498-8) contains supplementary material, which is available to authorized users.

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“…Reduction of clinical data in myopathies to a six-pattern classification of clinical presentations conceals many subtle variations, best revealed by MRI but also evident, to a degree, on clinical assessment. A striking and clinically unexpected complexity of individual muscular involvement in inherited myopathic diseases has become apparent,3 often sufficiently specific to suggest particular mutations 5. However, the factors underlying these subtle syndromic differences, especially their onset and rates of progression, are not, as yet, understood (box 2).…”

Section: Clinical Syndromes Of Myopathies: Specificity and Variability?mentioning

confidence: 99%

“…Images of lumbar, gluteal, thigh and lower leg muscles are especially helpful, and certain patterns of involvement of specific muscles may themselves be diagnostic (eg, see figure 1 in ten Dam et al 3). 6 The changes revealed by MRI may be better understood in functional MR and diffusion tensor imaging of muscle disease, perhaps especially in delineating patterns of muscle involvement in early-onset or late-onset phenotypes.…”

Section: Clinical Syndromes Of Myopathies: Specificity and Variability?mentioning

confidence: 99%

Six issues in muscle disease

Swash

2017

J Neurol Neurosurg Psychiatry

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Muscle imaging in inherited and acquired muscle diseases

Cited by 54 publications

References 113 publications

Advancements in magnetic resonance imaging‐based biomarkers for muscular dystrophy

Advancements in magnetic resonance imaging‐based biomarkers for muscular dystrophy

Muscle MRI in neutral lipid storage disease (NLSD)

Six issues in muscle disease

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