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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myopathy
Symptom C0004093|weakness
Sentences 47
PubMedID- 22955479 Dermatomyositis is a rare autoimmune inflammatory myopathy with proximal muscle weakness and skin affection.
PubMedID- 26278982 These diseases frequently involve both skeletal and cardiac muscle tissue, causing myopathy with muscle weakness and wasting, and cardiomyopathy with arrhythmia, conduction block, and cardiac failure.
PubMedID- 23275319 In particular, a 17195t→c substitution in the 3′-utr of the gene encoding the seln protein causes sepn1-related myopathy characterized with marked muscle weakness and a significant restrictive respiratory insufficiency (110).
PubMedID- 25380823 The deletion of a component of the proteasome complex contributed to myofiber degeneration and weakness in muscle disorders that are characterized by the accumulation of abnormal inclusions.
PubMedID- 24360150 Clinically, the patients reported so far show primarily skeletal muscle weakness associated with myopathy, with highly elevated creatine kinase levels, and show cardiomyopathy usually observed at later stages of the disease .
PubMedID- 24091937 Conclusions and relevance: affected children presenting with severe congenital ophthalmoplegia and facial weakness in the setting of only mild skeletal myopathy harbored recessive mutations in ryr1, encoding the ryanodine receptor 1, and were susceptible to malignant hyperthermia.
PubMedID- 25706820 Neuromuscular weakness due to metabolic myopathy is present, which predisposes children to sleep-disordered breathing.
PubMedID- 22565568 A case of necrotizing myopathy with proximal weakness and cardiomyopathy.
PubMedID- 26171092 Methods: we report a case of mitochondrial myopathy causing weakness primarily of the muscles of facial expression and the neck in the context of chronic migraine headaches (>20-year history).
PubMedID- 22394569 To evaluate the muscle weakness of patients with myopathy, manual muscle testing (mmt) was measured using a 0-point to 5-point scale.
PubMedID- 23661978 Hypothyroid myopathy can present with stiffness, weakness, cramps and aching muscles.
PubMedID- 24516687 The clinical symptoms of a severe vitamin d deficiency include, besides a mineralization disorder, a myopathy with proximal muscle weakness and muscle pain.
PubMedID- 21971943 However, because it is difficult to distinguish muscle weakness due to steroid myopathy and that due to the primary disease, pm or dm, no evaluation of steroid myopathy was carried out in this study.
PubMedID- 26325203 Loss of function mutations in bin1, the gene encoding the membrane trafficking protein bin1/amphiphysin 2, cause severe forms of myopathy with muscle weakness evident at birth .
PubMedID- 20589077 Nebulin's role in thin filament length regulation provides a mechanism for the first time to explain severe muscle weakness in patients with nemaline myopathy, a debilitating disease frequently caused by nebulin gene mutations and reduced nebulin protein levels .
PubMedID- 25574751 Dysferlinopathies are rare disorders of muscle that present two main phenotypes: miyoshi myopathy with primarily distal weakness and limb-girdle muscular dystrophy type 2b (lgmd2b) with primarily proximal weakness.
PubMedID- 25287355 Results: a 72-year-old woman had late-onset myopathy, with mild weakness, cramps, and exercise intolerance.
PubMedID- 26307083 Muscle weakness in tpm3-myopathy is due to reduced ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
PubMedID- 22229127 In addition, none of our patients had evidence of a focal or generalized myopathy with weakness of their posterior (extensor) cervical musculature.
PubMedID- 24755310 Marinesco-sjögren syndrome (mss; omim 248800) is an autosomal recessive multisystem disorder clinically characterized by the tetralogy of cerebellar ataxia, congenital cataracts, intellectual disability, and progressive muscle weakness due to myopathy .
PubMedID- 24951453 Ryr1-related congenital myopathy with fatigable weakness, responding to pyridostigimine.
PubMedID- 21424749 Therefore, the symptoms of patient 1 are incompatible with pure axial myopathy because of the muscle weakness and mitochondrial abnormalities that were observed in the biceps brachii muscle.
PubMedID- 19808781 To determine whether the muscle weakness was due to a generalized myopathy resulting from abnormal muscle morphology and structure, we undertook a detailed microscopic analysis of skeletal muscle from mutant mice and wild-type controls.
PubMedID- 24964690 Isolated myopathy with respiratory muscle weakness in this mutation has been rarely documented.
PubMedID- 21772617 Previously the child had a history of developing proximal myopathy with muscle weakness at the age of 2 years.
PubMedID- 20453710 Over the course of the first 2 y of life, she developed a progressively severe myopathy with pronounced muscle weakness eventually leading to respiratory failure, leigh disease, and recurrent hepatic failure.
PubMedID- 24648807 Dermatomyositis (dm) is an idiopathic inflammatory myopathy with progressive, symmetrical weakness of the proximal muscles and characteristic cutaneous manifestations such as poikiloderma 1.
PubMedID- 20957154 These mice manifest muscle weakness, pathology characteristic of inclusion body myopathy including blue rimmed vacuoles and tdp-43 pathology.
PubMedID- 22016737 As patients get older, attack frequency decreases but some develop progressive persistent weakness in the form of proximal myopathy and can progress to debilitating weakness (to the point of wheelchair confinement) especially those who were untreated throughout previous attacks.
PubMedID- 23798481 We conclude that rbck1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy.
PubMedID- 25047669 We screened for late-onset pompe disease in a cohort of undetermined myopathy patients with proximal muscle weakness and/or elevated serum creatine kinase values.
PubMedID- 24703356 Several studies in humans have been performed regarding changes in sialic acid expression in a particular pathology, hereditary inclusion body myopathy, leading to muscular weakness and atrophy, with a similar phenomenon appearing also in sarcopenia of aging.
PubMedID- 23056691 Additional manifestations often include progressive external ophthalmoplegia, proximal myopathy with weakness, and neurologic disturbances (seizures, ataxia, stroke-like episodes).
PubMedID- 21577340 Patients usually suffer from exercise intolerance owing to their impaired oxidative capacity and physical deconditioning.8 fatigue and weakness are physical signs of mitochondrial myopathy that may be treatable with exercise therapy.
PubMedID- 20301480 Dysferlinopathy includes a spectrum of muscle disease characterized by two main phenotypes: miyoshi myopathy with primarily distal weakness and limb-girdle muscular dystrophy type 2b (lgmd2b) with primarily proximal weakness.
PubMedID- 25737049 Background: intensive care unit (icu) acquired or generalised weakness due to critical illness myopathy (cim) and polyneuropathy (cip) are major causes of chronically impaired motor function that can affect activities of daily living and quality of life.
PubMedID- 24339611 7 osteomalacia is generally believed to cause proximal muscle weakness due to myopathy with emg manifestations of short duration, small amplitude motor unit potentials with early recruitment and without denervation.
PubMedID- 22379454 Autoimmune necrotizing myopathy can be associated with rapidly progressive weakness, high cpk and little inflammation on muscle biopsies .
PubMedID- 26158919 Intensive care unit (icu) acquired or generalised weakness due to critical illness myopathy (cim) and polyneuropathy (cip) are major causes of chronically impaired motor function that can affect activities of daily living and quality of life.
PubMedID- 25971316 He had developed severe, progressive muscle weakness due to steroid induced myopathy and was confined to a wheelchair.
PubMedID- 24917637 The proximal weakness seen with steroid myopathy necessitates special considerations for an omm approach to address somatic dysfunction associated with this disease.
PubMedID- 22371254 Nonsense and frameshift mutations in megf10 were recently determined to be the cause of a severe congenital myopathy with diaphragmatic weakness, areflexia, and dysphagia.
PubMedID- 22726824 For obvious ethical reasons, we could not obtain muscle tissue to provide direct histological evidence showing myopathy or myositis in patients without proximal muscle weakness and isolated increase of aldolase.
PubMedID- 22890575 Vcp mutations were identified by linkage analysis studies in autosomal dominant families with disabling muscle weakness due to inclusion body myopathy (ibm), osteolytic bone lesions consistent with pdb and ftld (ibmpfd) .
PubMedID- 21858232 A missense mutation in a domain-less area on matr3 was recently found to cause adult-onset autosomal dominant vocal cord and pharyngeal weakness with distal myopathy (vcpdm) 6.
PubMedID- 25185957 Clinicopathological features of the first asian family having vocal cord and pharyngeal weakness with distal myopathy due to a matr3 mutation.
PubMedID- 24055211 This observation emphasizes the role of sibm in the etiology of camptocormia and the need to consider this common myopathy as a cause of weakness, despite the lack of classic quadriceps and finger flexor muscle weakness years after the onset of the paraspinal muscle weakness.

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