Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

Paradas, Carmen; Llauger, Jaume; Díaz-Manera, Jordi; Rojas‐García, Ricard; Luna, Noemí de; Iturriaga, C.; Márquez, Cristina; Usón, María José Sánchez; Hankiewicz, Karolina; Gallardo, Eduard; Illa, Isabel

doi:10.1212/wnl.0b013e3181ea1564

Cited by 114 publications

(118 citation statements)

References 34 publications

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“…The rate of progression of this disease is highly variable among patients, with no correlation between the age of onset of symptoms and the rate at which the muscles deteriorate (32,33). The SJL mouse has previously been described as having a slowly progressive muscular dystrophy by 6 months of age followed by rapid disease progression in subsequent months (16,17).…”

Section: Discussionmentioning

confidence: 99%

Assessment of disease activity in muscular dystrophies by noninvasive imaging

Maguire

Lim²,

Speedy³

et al. 2013

J. Clin. Invest.

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Muscular dystrophies are a class of disorders that cause progressive muscle wasting. A major hurdle for discovering treatments for the muscular dystrophies is a lack of reliable assays to monitor disease progression in animal models. We have developed a novel mouse model to assess disease activity noninvasively in mice with muscular dystrophies. These mice express an inducible luciferase reporter gene in muscle stem cells. In dystrophic mice, muscle stem cells activate and proliferate in response to muscle degeneration, resulting in an increase in the level of luciferase expression, which can be monitored by noninvasive, bioluminescence imaging. We applied this noninvasive imaging to assess disease activity in a mouse model of the human disease limb girdle muscular dystrophy 2B (LGMD2B), caused by a mutation in the dysferlin gene. We monitored the natural history and disease progression in these dysferlin-deficient mice up to 18 months of age and were able to detect disease activity prior to the appearance of any overt disease manifestation by histopathological analyses. Disease activity was reflected by changes in luciferase activity over time, and disease burden was reflected by cumulative luciferase activity, which paralleled disease progression as determined by histopathological analysis. The ability to monitor disease activity noninvasively in mouse models of muscular dystrophy will be invaluable for the assessment of disease progression and the effectiveness of therapeutic interventions.

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Section: Discussionmentioning

confidence: 99%

Assessment of disease activity in muscular dystrophies by noninvasive imaging

Maguire

Lim²,

Speedy³

et al. 2013

J. Clin. Invest.

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“…4) head), adductor magnus and longus, gastrocnemius medialis and tibialis posterior appeared to be less severely affected. Notably, tibialis posterior is affected early in the disease course, contrary to the majority of myopathies, in particular LDMG and distal myopathies, in which tibialis posterior is frequently spared even in the late-end stages of the disease course [17,[25][26][27][28][29]. Muscles of anterior compartment of the leg are variably affected during the disease course while quadriceps and psoas become affected in the late-end stages of disease.…”

Section: Discussionmentioning

confidence: 99%

“…Muscles of anterior compartment of the leg are variably affected during the disease course while quadriceps and psoas become affected in the late-end stages of disease. Psoas sparing can help to recognize NLSD from other myopathies in the late-end course of the disease when specificity of the MRI pattern involvement disappears or the muscle biopsy may be not informative [17,[25][26][27][28][29]. Sparing of sartorius, gracilis and pectineus is constantly observed in all cases.…”

Section: Discussionmentioning

confidence: 99%

Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi

Tasca

Díaz‐Manera

et al. 2016

Neuromuscular Disorders

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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.In the original publication of this article, unfortunately, first word in the title was deleted; this error has now been corrected. Electronic supplementary materialThe online version of this article

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“…In recent years, several studies have reported the use of muscle MRI as a useful noninvasive technique for the assessment of neuromuscular disorders (Mercuri et al 2002a; De Jager et al 1998;Paradas et al 2010;Fisher et al 2005;Wattjes et al 2010). In this study, the authors introduce a completely new, simple to perform, and reliable diagnostic method to assess the progress of the muscle atrophy process in myopathies.…”

Section: Discussionmentioning

confidence: 99%