Myopathy, central core Myopathy, congenital Myopathy, myotubular Myotubular myopathy Walker Walbug muscular dystrophy, congenital Walker walburg congenital muscular dystrophy
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From Wikidata Jump to navigation Jump to search myopathy characterized by progressive skeletal muscle weakness degeneration edit English muscular dystrophy myopathy characterized
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Central core disease Centronuclear myopathy Myotubular myopathy Nemaline body disease ICD-9-CM Volume 2 Index entries containing back-references to 359.0 :
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Zocor Myopathy A number of patients have reported the onset of Zocor myopathy.
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mitochondrial myopathy, and peripheral neuropathy.
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[…] for patients with mitochondrial myopathies. 5 Conclusion Mitochondrial myopathies should be considered in patients presenting with recurrent muscle pain and elevation of
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Minicore (multicore) myopathy Minicore (multicore) myopathy Minicore myopathy, also called, multicore myopathy and multiminicore myopathy, falls under the umbrella of congenital
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Called also azoturia, Monday morning disease, tying up syndrome, capture myopathy. rhabdomyolysis disintegration of striated muscle fibers with excretion of myoglobin in the
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Recessive mutations in ANO5 (OMIM#608662) cause a wide spectrum of myopathies including LGMD2L, distal myopathy and isolated hyperCKemia.
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Type 2 muscle atrophy - Alcoholic myopathy, Thomas Klopstock, M.D.,1994, last updated 2011 PATHOGENESIS Acute Alcoholic Myopathy Acute alcoholic myopathy develops suddenly
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[…] addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies
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Recessive mutations in ANO5 (OMIM#608662) cause a wide spectrum of myopathies including LGMD2L, distal myopathy and isolated hyperCKemia.
[ojrd.biomedcentral.com]
) muscular dystrophies and myopathies ( G71 - G72 ) myopathy in amyloidosis ( E85.- ) myopathy in polyarteritis nodosa ( M30.0 ) myopathy in rheumatoid arthritis ( M05.32
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Longer-term myalgias may be indicative of a metabolic myopathy, some nutritional deficiencies or chronic fatigue syndrome.
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myopathy in scleroderma ( M34.- ) myopathy in Sjögren's syndrome ( M35.03 ) myopathy in systemic lupus erythematosus ( M32.- ) Disorders of muscles M62 ICD-10-CM Diagnosis
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We describe two families which were initially classified as metabolic myopathies, until the diagnosis of atypical BMD was established after dystrophin analysis at the protein
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X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis Benign pseudohypertrophic muscular dystrophy benign congenital myopathy
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INTRODUCTION: Quantitative MRI techniques detect disease progression in myopathies more sensitively than muscle function measures or conventional MRI.
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Primary sporadic amyloid myopathy Secondary myopathy Secondary myopathy Secondary myopathy Symptomatic inflammatory myopathy Symptomatic inflammatory myopathy associated
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Metabolic myopathies may be often accompanied by secondary hypovitaminosis D. Muscle biopsies can help in differentiating HDM from other myopathies.
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We present a family with a distal myopathy secondary to a mutation in myotilin.
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ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Mitochondrial myopathy, encephalopathy
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Melas syndrome consists of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke.
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CPEO is the most common manifestation of mitochondrial myopathy, occurring in an estimated two-thirds of all cases of mitochondrial myopathy.
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Inflammatory myopathies, including polymyositis, dermatomyositis, and necrotizing autoimmune myopathy, are even more rare, but debilitating, side effects of statin therapy
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Furthermore, glucocorticosteroid (GC) toxicity leads to a significant disability known as steroid myopathy, particularly in elderly patients.
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Less common myopathies included metabolic myopathy (2 families), congenital myasthenic syndrome (DOK7), congenital myopathy (ACTA1), tubular aggregate myopathy (STIM1), myofibrillar
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For this reason our finding extends the histological spectrum of myopathies due to ANO5 mutations as well as the possible differential diagnoses for necrotizing myopathy.
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Several missense mutations in the myotilin gene (MYOT) have been identified in limb girdle muscular dystrophy (LGMD), myofibrillar myopathy, and distal myopathy patients.
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[…] some ultrastructural characteristics with distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
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The question whether oculopharyngodistal myopathy (MIM 164310) is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (MIM 164300) persists.
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We show that oculopharyngeal muscular dystrophy is a systemic myopathy with a marked predeliction for extraocular and non-somatically derived muscles.
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Observations on myopathy. Proc R Soc Med. 1922. 16:1.
[emedicine.medscape.com]
ocular Mitochondrial ocular myopathy Muscular dystrophy Muscular dystrophy, distal Muscular dystrophy, Duchenne Muscular dystrophy, Emery Dreifuss Muscular dystrophy, Erbs
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Families have been reported in which some members develop LGMD2B and others Miyoshi myopathy.
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OBJECTIVES: To report cases of chronic autoimmune necrotizing myopathy with anti-signal recognition particle antibodies (anti-SRP myopathy) initially misdiagnosed as muscular
[ncbi.nlm.nih.gov]
[…] oculopharyngeal myopathy, polymyositis, rigid spine syndrome, congenital myopathies, and some limb girdle muscular dystrophies, as well as in various neurogenic diseases.
[ncbi.nlm.nih.gov]
Most genetically confirmed FSHD patients exhibit unspecific morphological signs of a degenerative myopathy.
[ncbi.nlm.nih.gov]
) muscular dystrophies and myopathies ( G71 - G72 ) myopathy in amyloidosis ( E85.- ) myopathy in polyarteritis nodosa ( M30.0 ) myopathy in rheumatoid arthritis ( M05.32
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) muscular dystrophies and myopathies ( G71-G72 ) myopathy in: · amyloidosis ( E85.- ) · polyarteritis nodosa ( M30.0 ) · rheumatoid arthritis ( M05.3 ) · scleroderma
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Other parasitic myopathies such as trichinosis and cysticercosis are acquired through consumption of poorly cooked meats.
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BACKGROUND: Dermatomyositis (DM) is inflammatory myopathy or myositis characterized by muscle weakness and skin manifestations.
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The level of similarity between juvenile and adult myopathies regarding the presence of myositis-specific autoantibodies has not been fully elucidated.
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BACKGROUND: There are scarce studies in the literature about hyaluronic acid in systemic autoimmune myopathies.
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In conclusion, mitochondrial myopathy was definitely diagnosed.
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BACKGROUND: Mitochondrial myopathy is the commonest morphological diagnosis in the patients with the syndrome of chronic progressive external ophthalmoplegia.
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The EMG of the ocular muscles suggested myopathy.
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Haller, Metabolic and Mitochondrial Myopathies, Neurologic Clinics, 32, 3, (777), (2014).
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Michael Benatar, Metabolic Myopathy, Neuromuscular Disease, 10.1007/978-1-59745-106-2_22, (397-419), (2006).
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Turnbull, Investigation of metabolic myopathies, Myopathies, 10.1016/S0072-9752(07)86009-X, (193-204), (2007). G. Nogales-Gadea, J. Arenas and A. L.
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At late-onset, the spectrum of vacuolar myopathy is more divergent, ranging from almost normal to severe.
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The myopathy may also cause respiratory distress, and Pompe disease often presents as exercise intolerance.
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Patients at the other end of the spectrum present in the third to seventh decade, usually with a slowly progressive proximal myopathy.
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Turnbull, Investigation of metabolic myopathies, Myopathies, 10.1016/S0072-9752(07)86009-X, (193-204), (2007). Zuhair N.
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McArdle: Myopathy due to a defect in muscle glycogen breakdown. Clinical Science, London, 1951, 10: 13-33. S. Tarui, G. Okuno, Y.
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Handbook of Clinical Neurology (Myopathie), 2007, 86, 3rd series, chapt.7, p. 167-182 Neuromuscular disease.
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[…] autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36 myotonic myopathy
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A muscle biopsy is usually compatible with a myopathy.
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SYNDROME, TYPE 1 Chondrodystrophic Myotonia Dysostosis enchondralis metaepiphysaria, Catel-Hempel type SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Sja Syndrome SJS1 Myotonic Myopathy
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Paramyotonia congenita is an inherited myopathy, a disease that causes problems with the tone and contraction of skeletal muscles.
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G71.20 Congenital myopathy, unspecifed G71.22 Centronuclear myopathy G71.220 X-linked myotubular myopathy G71.228 Other centronuclear myopathy G71.29 Other congenital myopathy
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Identifier NOVEL_Cogan_28-11 Title Myopathies - Myotonia Congenita (Thomsen) Subject Eye Movement Recordings; Myopathies, Congenital; Lid Lag; Thomsen Disease History Presenting
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Heterozygotes are often asymptomatic but for some mutations heterozygosity is sufficient to cause pronounced myotonia, although without weakness and myopathy.
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Myotonic — Myopathy, Proximal Myotonic — Myotonic Myopathies, Proximal — Proximal Myotonic Myopathies
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Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
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— PROMMs (Proximal Myotonic Myopathy) — Proximal Myotonic Myopathy — Dystrophia Myotonica 2 — Dystrophia Myotonica 2s — Myotonic Myopathy, Proximal — Myopathies, Proximal
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In this study, DNA from 79 patients with sIBM was collected and the sequencing of 38 genes associated with hereditary inclusion body myopathy (IBM), myofibrillar myopathy,
[ncbi.nlm.nih.gov]
Semin Neurol 13 : 256–263 3 Griggs RC et al. (1995) Inclusion body myositis and myopathies.
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Unlike other inflammatory myopathies, dysphagia in inclusion body myositis is steroid resistant. Management can be difficult.
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Inflammatory myopathies: Polymyositis, dermatomyositis, and related conditions.
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Juvenile dermatomyositis with respiratory involvement Juvenile dermatopolymyositis Juvenile dermatopolymyositis w lung involvement Juvenile dermatopolymyositis w myopathy
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[…] for the pathogenesis of the different inflammatory myopathies.
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There is lipid myopathy with microvesicular lipid accumulation found in the muscle and liver as well as elevated liver transaminases and hyperammonemia.
[orpha.net]
Early diagnosis and treatment with high-dose oral primary carnitine supplementation is critical and lifesaving and reverses the end-stage cardiomyopathy, myopathy, and episodes
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[…] consumed (resulting in hypoglycemia) and the fat released from adipose tissue accumulates in the liver, heart and skeletal muscle (leading to hepatic steatosis and lipid myopathy
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In rare myopathies (with involvement of the levator muscle of upper eyelid), ptosis is usually an isolated ocular sign, and bilateral in congenital myopathies, glycogen storage
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Hyperthyroid myopathy Myotonia congenita Myotubular myopathy Nemaline myopathy Paramyotonia congenita Periodic paralysis-hypokalemic-hyperkalemic
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Conditions and symptoms Amyotrophic lateral sclerosis (ALS) Botulism Congenital myasthenic syndromes Congenital myopathies Cramp-fasciculation syndrome Elevated creatine kinase
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Because of the infiltration of degenerating muscles with… Read More myopathy In myopathy …most common muscular dystrophy is Duchenne’s, an X-chromosome-linked disorder involving
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Because of the infiltration of degenerating muscles with…Read More myopathy In myopathy …most common muscular dystrophy is Duchenne’s, an X-chromosome-linked disorder involving
[britannica.com]
MRI, EMG and NCV were compatible with proximal muscle myopathy.
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Nemaline myopathy is divided into six types.
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As such, the congenital myopathies can be divided into 6 pathologic categories. [1, 2] nemaline myopathy (subtypes: rod, core-rod, cap and zebra body myopathy); core myopathy
[emedicine.medscape.com]
Nemaline myopathy Other names Nemaline rod myopathy Specialty Neurology Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary neuromuscular
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This review will focus on myotubular myopathy, centronuclear myopathy, central core disease, and congenital neuromuscular disease with uniform Type 1 fiber, myopathies that
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We suggest that all patients with idiopathic scoliosis deserve a thorough neurological evaluation if congenital myopathies are suspected.
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Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures
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