Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Olivé, Montse; Odgerel, Zagaa; Martinez, A. L.; Poza, Juan José; Bragado, Federico García; Zabalza, Ramón J.; Jericó, Ivonne; González-Mera, Laura; Shatunov, Aleksey; Lee, Hee Suk; Armstrong, Judith; Maraví, E.; Arroyo, Maria Ramos; Pascual-Calvet, Jordi; Navarro, Carmen; Paradas, Carmen; Huerta, Mariano Jiménez; Márquez, Fabián; Rivas, Eduardo Gutiérrez; Pou, Adolf; Ferrer, Isidre; Goldfarb, Lev G.

doi:10.1016/j.nmd.2011.05.002

Cited by 82 publications

(89 citation statements)

References 36 publications

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“…Indeed, the combined involvement of the biceps femoris short head, tibialis anterior and adductor muscles (including the adductor longus) may help to distinguish GNE myopathy from the predominantly distal myofibrillar myopathy subtypes. Additional distinctive features include the prominent involvement of the iliopsoas, semitendinosus and peroneal muscle in desminopathies (whereas in GNE myopathy involvement of the tibialis anterior is always at least equal to that of the peroneal muscles) and the preferential involvement of the hip adductors, biceps femoris long head and soleus among the distal muscles in myotilinopathies and ZASPopathies, in which the iliopsoas, gracilis and rectus femoris are spared even in advanced stages [18,25,26].…”

Section: Discussionmentioning

confidence: 99%

Muscle imaging findings in GNE myopathy

Tasca

Ricci

Monforte³

et al. 2012

J Neurol

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GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Besides the typical phenotype, characterized by the initial involvement of the distal leg muscles that eventually spreads proximally with sparing of the quadriceps, uncommon presentations with a non-canonical clinical phenotype, unusual muscle biopsy findings or both are increasingly recognized. The aim of our study was to characterize the imaging pattern of pelvic and lower limb muscles in GNE myopathy, thus providing additional diagnostic clues useful in the identification of patients with atypical features. We retrospectively evaluated muscle MRI and CT scans of a cohort of 13 patients heterogeneous for GNE mutations and degree of clinical severity. We found that severe involvement of the biceps femoris short head and, to a lesser extent, of the gluteus minimus, tibialis anterior, extensor hallucis and digitorum longus, soleus and gastrocnemius medialis was consistently present even in patients with early or atypical disease. The vastus lateralis, not the entire quadriceps, was the only muscle spared in advanced stages, while the rectus femoris, vastus intermedius and medialis showed variable signs of fatty replacement. Younger patients showed hyperintensities on T2-weighted sequences in muscles with a normal or, more often, abnormal T1-weighted signal. Our results define a pattern of muscle involvement that appears peculiar to GNE myopathy. Although these findings need to be further validated in a larger cohort, we believe that the recognition of this pattern may be instrumental in the initial clinical assessment of patients with possible GNE myopathy.

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Section: Discussionmentioning

confidence: 99%

Muscle imaging findings in GNE myopathy

Tasca

Ricci

Monforte³

et al. 2012

J Neurol

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“…Respiratory muscle weakness is a common feature during the disease course of most MFM, including those caused by filamin [68], desmin [69], a B-crystallin [70], BAG3 [71], and a minority caused by myotilin mutations [72]. Of these, there are cases reported of patients presenting with respiratory failure in MFM due to mutations in desmin [69], a B-crystallin [70], and BAG3 [71].…”

Section: Inherited Muscle Diseasesmentioning

confidence: 99%

Diagnosis of muscle diseases presenting with early respiratory failure

et al. 2014

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Here we describe a clinical approach and differential diagnosis for chronic muscle diseases which include early respiratory failure as a prominent feature in their presentation (i.e. respiratory failure whilst still ambulant). These patients typically present to neurology or respiratory medicine out-patient clinics and a distinct differential diagnosis of neuromuscular aetiologies should be considered. Amyotrophic lateral sclerosis and myasthenia gravis are the important non-muscle diseases to consider, but once these have been excluded there remains a challenging differential diagnosis of muscle conditions, which will be the focus of this review. The key points in the diagnosis of these disorders are being aware of relevant symptoms, which are initially caused by nocturnal hypoventilation or diaphragmatic weakness; and identifying other features which direct further investigation. Important muscle diseases to identify, because their diagnosis has disease-specific management implications, include adult-onset Pompe disease, inflammatory myopathy, and sporadic adult-onset nemaline myopathy. Cases which are due to metabolic myopathy or muscular dystrophy are important to diagnose because of their implications for genetic counselling. Myopathy from sarcoidosis and colchicine each has a single reported case with this presentation, but should be considered because they are treatable. Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to TTN mutations), the FHL1-related syndromes, and myofibrillar myopathy due to BAG3 mutation. Recently described syndromes include oculopharyngodistal muscular dystrophy that awaits genetic characterisation.

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“…Displaced membranous organelles are also evident, either in the cytoplasm or within autophagic vacuoles. Affected areas of the cells are frequently devoid of oxidative enzymatic activity and mitochondria can be abnormally shaped and positioned [2][3][4][5]. Characterization of the protein aggregates using immunohistochemistry reveals the presence of a wide range of sarcomeric, extracellular, and ubiquitously expressed proteins including Myotilin, Desmin, B-Crystallin, Filamin C, BAG3, ZASP, Actin, Titin, Myosin, Xin, Dystrophin, sarcoglycans, Plectin, Delsolin, Ubiquitin, Neural cell adhesion modulator, Gelsolin, Syncoilin, Synemin, TAR DNAbinding protein 43, Heat-shock protein 27, and DNAJB2 [6].…”

Section: Introductionmentioning

confidence: 99%