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Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles
Malicdan May Christine,Nonaka Ikuya
Neurology India , 2008,
Abstract: Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. The recent years have witnessed increasing efforts to identify the causative genes for distal myopathies. The identification of few causative genes made the broad classification of these diseases under "distal myopathies" disputable and added some enigma to why distal muscles are preferentially affected. Nevertheless, with the clarification of the molecular basis of specific conditions, additional clues have been uncovered to understand the mechanism of each condition. This review will give a synopsis of the common distal myopathies, presenting salient facts regarding the clinical, pathological, and molecular aspects of each disease. Distal myopathy with rimmed vacuoles, or Nonaka myopathy, will be discussed in more detail.
Molecular Markers for Granulovacuolar Degeneration Are Present in Rimmed Vacuoles  [PDF]
Masahiro Nakamori, Tetsuya Takahashi, Tomokazu Nishikawa, Yu Yamazaki, Takashi Kurashige, Hirofumi Maruyama, Koji Arihiro, Masayasu Matsumoto
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0080995
Abstract: Background Rimmed vacuoles (RVs) are round-oval cytoplasmic inclusions, detected in muscle cells of patients with myopathies, such as inclusion body myositis (IBM) and distal myopathy with RVs (DMRV). Granulovacuolar degeneration (GVD) bodies are spherical vacuoles containing argentophilic and hematoxyphilic granules, and are one of the pathological hallmarks commonly found in hippocampal pyramidal neurons of patients with aging-related neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. These diseases are common in the elderly and share some pathological features. Therefore, we hypothesized that mechanisms of vacuolar formation in RVs and GVD bodies are common despite their role in two differing pathologies. We explored the components of RVs by immunohistochemistry, using antibodies for GVD markers. Methods Subjects included one AD case, eight cases of sporadic IBM, and three cases of DMRV. We compared immunoreactivity and staining patterns for GVD markers. These markers included: (1) tau-modifying proteins (caspase 3, cyclin-dependent kinase 5 [CDK5], casein kinase 1δ [CK1δ], and c-jun N-terminal kinase [JNK]), (2) lipid raft-associated materials (annexin 2, leucine-rich repeat kinase 2 [LRRK2], and flotillin-1), and (3) other markers (charged multi-vesicular body protein 2B [CHMP2B] and phosphorylated transactive response DNA binding protein-43 [pTDP43]) in both GVD bodies and RVs. Furthermore, we performed double staining of each GVD marker with pTDP43 to verify the co-localization. Results GVD markers, including lipid raft-associated proteins and tau kinases, were detected in RVs. CHMP2B, pTDP43, caspase 3, LRRK2, annexin 2 and flotillin-1 were detected on the rim and were diffusely distributed in the cytoplasm of RV-positive fibers. CDK5, CK1δ and JNK were detected only on the rim. In double staining experiments, all GVD markers colocalized with pTDP43 in RVs. Conclusions These results suggest that RVs of muscle cells and GVD bodies of neurons share a number of molecules, such as raft-related proteins and tau-modifying proteins.
Aquaporin-4 expression in distal myopathy with rimmed vacuoles
Akihiko Hoshi, Teiji Yamamoto, Saeko Kikuchi, Tomoko Soeda, Keiko Shimizu, Yoshikazu Ugawa
BMC Neurology , 2012, DOI: 10.1186/1471-2377-12-22
Abstract: Here, we studied the expression of aquaporin-4 in muscle fibers of a patient with distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy. Immunohistochemical and immunofluorescence analyses showed that sarcolemmal aquaporin-4 immunoreactivity was reduced in many muscle fibers of the patient. However, the intensity of aquaporin-4 staining was markedly increased at rimmed vacuoles or its surrounding areas and in some muscle fibers. The fast-twitch type 2 fibers were predominantly involved with the strong aquaporin-4-positive rimmed vacuoles and TAR-DNA-binding protein-43 aggregations. Rimmed vacuoles with strong aquaporin-4 expression seen in the distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy patient were not found in control muscles without evidence of neuromuscular disorders and the other disease-controls.Aquaporin-4 might be crucial in determining the survival or degeneration of fast-twitch type 2 fibers in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy.
Distal myopathy with rimmed vacuoles: Report on clinical characteristics in 23 cases  [cached]
Nalini A,Gayathri N,Dawn Rose
Neurology India , 2010,
Abstract: Background: Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive (AR) myopathy characterized clinically by the preferential involvement of the tibialis anterior and has been reported predominantly in the Japanese population. Materials and Methods: A case series of DMRV patients seen over a period of 3 years at a tertiary national referral center for neurological disorders in south India. Results: We describe the clinical characteristics, muscle magnetic resonance imaging (MRI) findings and classical histopathological feature in 23 patients. There were 12 men and 11 women. Mean age of onset was 27.04 ± 6.35 years (10-39 years). Onset was in the second or third decade in a majority. Mean age at presentation was 33.95 ± 6.35 years (25-48 years). Mean duration of illness was 6.74 ± 4.8 years (1-18 years). Consanguinity was reported in eight (34.8%) patients. The predominant and initial manifestation was bilateral foot drop in all patients. Muscle MRI demonstrated classical involvement of the anterior compartment muscles of the lower legs and the posterior compartment muscles of the thighs and the quadriceps was normal in all. Muscle histopathology showed numerous fibers containing rimmed vacuoles. Necrotic fibers or phagocytosis or regenerating fibers were rarely noted or were absent. Conclusions: DMRV is a rare AR myopathy. The disorder presents as progressive foot drop and hence has many differential diagnoses. It is easily mistaken as neuropathy of hereditary nature and hence it is extremely important to recognize the preferential muscle involvement and characterize the phenotype. This is the first report from India with patients having characteristic phenotype of Nonaka′s/AR hereditary inclusion body myopathy with quadriceps sparing, and all were confirmed by histopathology.
Valley sign in Becker muscular dystrophy and outliers of Duchenne and Becker muscular dystrophy  [cached]
Pradhan Sunil
Neurology India , 2004,
Abstract: Valley sign has been described in patients with Duchenne muscular dystrophy (DMD). As there are genetic and clinical similarities between DMD and Becker muscular dystrophy (BMD), this clinical sign is evaluated in this study in BMD and DMD/BMD outliers. To evaluate the sign, 28 patients with Becker muscular dystrophy (BMD), 8 DMD/BMD outliers and 44 age-matched male controls with other neuromuscular diseases were studied. The sign was examined after asking patients to abduct their arms to about 90owith hands directed upwards; the muscle bulk over the back of the shoulders was observed. The sign was considered positive if the infraspinatus and deltoid muscles were enlarged and between these two muscles, the muscles forming the posterior axillary fold were wasted as if there were a valley between the two mounts. Twenty-five BMD patients and 7 DMD/BMD outliers had positive valley sign. However, it was less remarkable in comparison to DMD. It was absent in all the 44 controls. It was concluded that the presence of valley sign may help in differentiating BMD from other progressive neuromuscular disorders of that age group.
Minocycline-associated rimmed vacuolar myopathy in a patient with rheumatoid arthritis
Bokuda Kota,Sugaya Keizo,Tamura Shunichiro,Miyamoto Kazuhito
BMC Neurology , 2012, DOI: 10.1186/1471-2377-12-140
Abstract: Background The autophagic vacuolar myopathies (AVM) are a group of inherited myopathies defined by the presence of autophagic vacuoles in pathological muscle specimens. AVM can be categorized into three groups: acid maltase deficiency, myopathies characterized by autophagic vacuoles with unique sarcolemmal features, and rimmed vacuolar myopathies (RVM). While the pathogeneses of these conditions are still being elucidated, some drugs (e.g., chloroquine, its analog, hydroxychloroquine, and colchicine) can also cause AVM. Minocycline is a disease-modifying anti-rheumatic drug that may be used in the treatment of rheumatoid arthritis (RA). Here, we describe the first case of minocycline-associated AVM with rimmed vacuole formation. Case presentation A 75-year-old woman suffering from RA has been continuously treated with minocycline (200 mg/day) for the past 7 years. During this time, she developed a myopathy that predominantly affected her lower limbs. Histological studies of biopsied muscle revealed scattered atrophic myofibers with rimmed vacuoles that contained pigment granules. Histochemical staining revealed that the pigment comprised both iron and melanin, which is consistent with type II minocycline-induced cutaneous pigmentation. Under electron microscopy, autophagic vacuoles were consistently observed in association with numerous collections of pigment granules. Conclusions This is the first report of minocycline-induced pigmentation in skeletal muscle. The strong association between autophagic vacuoles and the accumulation of minocycline-induced pigments suggest that long-term minocycline treatment induced pigment accumulation, leading to elevation of autophagic activity and RVM. It might also be possible that minocycline directly activated autophagy, as the observed pigments are known to form complexes containing minocycline and/or its metabolites. As long-term minocycline treatment is expected to be used more widely in the future, we must draw attention to this adverse effect.
Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy  [cached]
Melinda F. Davis,Katalin H. Scherer,Timothy M. Miller,F. John Meaney
Journal of Methods and Measurement in the Social Sciences , 2010,
Abstract: Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy), respiratory equipment (assisted ventilation, cough assist devices), and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds). The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data.
Becker′s Muscular Dystrophy-A Case Report
Rajendran P,Manivannan R,Rajarathinam A,Aleem M.A
Annals of Indian Academy of Neurology , 1998,
Abstract: A case of Becker′s Muscular dystrophy (BMD) in a 26-year-old male is reported. Muscle biopsy immunohistochemical staining showed absence of labelling for dystrophin along the sacrolemmal membrane in majority of the fibres. Antibodies to adhalin and merosin showed normal localisation along the sacrolemma.
Use of Sugammadex in Myasthenia Gravis and Becker Muscular Dystrophy: Four Cases  [PDF]
Yasemin Burcu üSTüN,Binnur SARIHASAN,?smail Serhat KOCAMANO?LU,Seda YE?IN
Journal of Neurological Sciences , 2012,
Abstract: Myasthenia gravis is an antibody-mediated autoimmune disease targeting nicotinic acid acetylcholine receptors in neuromuscular junctions. In myasthenia gravis, the number of nicotinic acid acetylcholine receptors is significantly reduced. This condition leads to muscular weakness and deserves special attention in terms of respiratory muscles. Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis. Sugammadex is a hydrophilic cyclodextrin molecule that has a lipophilic nucleus. It is an innovative molecule which terminates the effects of steroidal neuromuscular blocking agents via encapsulation. This is a report of the use of sugammadex in patients with MG and Becker muscular dystrophy. Three patients with myasthenia gravis; 55, 45 and 2.5 year-old; were enrolled the surgery under general anesthesia for the disc hernia repair, abdominal hysterectomy, and correcting of cataract, respectively. Additionally, a five-year-old patient with Becker muscular dystrophy was scheduled for circumcision and orchiopexy under general anesthesia. In all patients, rocuronium as a muscle relaxant and sugammadex for the reverse of rocuronium were administered. Tracheal extubation was achieved in all patients at the end of operations without complications. The use of a combination of rocuronium-sugammadex seems safe in muscle diseases without the development of any possible complications.
Immune mechanisms in the pathogenesis of idiopathic inflammatory myopathies
Cecilia Grundtman, Vivianne Malmstr?m, Ingrid E Lundberg
Arthritis Research & Therapy , 2007, DOI: 10.1186/ar2139
Abstract: Idiopathic inflammatory myopathies (IIMs) are characterized by mononuclear inflammatory cell infiltrates in skeletal muscle tissue, by muscle weakness, and by muscle fatigue. They are often subclassified into three major groups on the basis of clinical and histopathological differences: polymyositis, dermatomyositis, and inclusion-body myositis. The cellular infiltrates in muscle tissue are mainly composed of T lymphocytes and macrophages but also, in some cases, B lymphocytes. This observation, together with frequently detected autoantibodies particularly in polymyositis and dermatomyositis, suggests that the inflammatory myopathies are immune-mediated; they are believed to be triggered by environmental factors in genetically susceptible individuals. The varying clinical features and the different predominating histopathological features such as localization and phenotypes of inflammatory infiltrates, or rimmed vacuoles as seen in inclusion-body myositis, suggest that there are different pathophysiological mechanisms leading to myositis. Despite these differences the inflammatory molecules produced in muscle tissue are highly similar in chronic inflammatory myopathies, suggesting that some molecular pathways are shared between the subsets of inflammatory myopathies.In the inflammatory myopathies there are also signs of microvascular involvement. The involvement of microvessels was first reported in patients with dermatomyositis as capillary loss and recognized by the presence of the membrane attack complex (MAC) [1,2]. Later, activated capillaries with increased expression of adhesion molecules (intercellular cell-adhesion molecule-1 and/or vascular cell-adhesion molecule-1) and IL-1α were also seen in patients without skin rash, in polymyositis and inclusion-body myositis. Damage or activation of blood vessels could indicate that the microvessels are targets of the immune reaction in some subsets of patients with IIM.It has long been recognized that the inflammato
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