scholarly journals P035 Inflammatory myopathy and metabolic disorders causing myopathies

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Mariam Malik ◽  
Alice Mason ◽  
Brian Davidson ◽  
Julian Furby
Keyword(s):  
Genetic Testing ◽  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Lipid Accumulation ◽  
Metabolic Disorder ◽  
Inflammatory Markers ◽  
Fatty Infiltration ◽  
Inflammatory Myopathy ◽  
Sensory Neuropathy ◽  
Riboflavin Transport

Abstract Background/Aims  Myopathies due to inborn errors of metabolism can be difficult to differentiate from inflammatory myopathies. Careful history, examination and laboratory tests are required to establish the diagnosis. We present a case of Riboflavin Transport Deficiency (Brown-Vialetto-Van Laere syndrome) masquerading as an inflammatory myopathy. Methods  A 37-year-old lady presented with severe proximal muscle weakness. She had background of sensory neuropathy and chronic anaemia. Notably, her sister had a history of similar symptoms. Creatine Kinase (CK) was 360 IU/L and lactate dehydrogenase (LDH) was 1700 IU/L. Inflammatory markers were normal. The Ro52 antibody was weakly positive. Electromyography showed evidence of a sensory neuropathy with myopathic features. There was symmetrical fatty infiltration and atrophy of the thigh muscles on magnetic resonance imaging (MRI). Positron emission tomography (PET-CT) scan showed widespread intense uptake in skeletal muscle groups. She was given 3 pulses of IV methyprednisolone followed by oral prednisolone which did not provide clinical benefit. Intravenous immune globulin was given when she developed bulbar weakness, with difficulty swallowing and breathing. She required non-invasive ventilation and nasogastric feed. There were necrotic and regenerative muscle fibres on the muscle biopsy, in keeping with rhabdomyolysis. Electron microscopy showed abundant lipid accumulation, suggestive of a metabolic disorder. Urinary organic acids were raised, triggering an acylcarnitines blood spot test, which were increased. This was compatible with riboflavin transport 'Brown-Vialetto-Van-Laere syndrome'. Riboflavin 500mg TDS was started resulting in significant clinical improvement. Prednisolone was weaned, genetic testing sent, and she was transferred for neurorehabilitation. Results  Riboflavin Transport Deficiency (Brown-Vialetto-Van Laere syndrome) is an autosomal recessive neurodegenerative genetic disorder. It affects females and males equally. Symptoms can appear in infants as well as adults. These include hearing and visual loss, bulbar palsy leading to dysphagia and speech problems. Paralysis of diaphragm may cause breathing difficulty. Initially it affects the proximal muscles and then generalized muscle weakness. Molecular genetic testing is required to confirm diagnosis. Patients may have abnormal plasma levels of flavin or acylcarnitine. Acylcarnitines are biological intermediates, used in the diagnosis of fatty acid oxidation disorders. Treatment includes riboflavin supplementation and supportive measures. Response to treatment is variable. Conclusion  This lady was initially managed as inflammatory myopathy but did not respond to high dose methylprednisolone. There were atypical features including normal inflammatory markers, MRI thighs showing predominantly fatty infiltration and muscle atrophy and the muscle biopsy with abundant lipid accumulation suggestive of a metabolic disorder. We are awaiting full results of genetic testing. This case is a reminder of the importance of tissue diagnosis and reassessing the initial diagnosis if the clinical picture changes or patients do not respond as expected to treatment. Disclosure  M. Malik: None. A. Mason: None. B. Davidson: None. J. Furby: None.

scholarly journals Physical therapy improves motion in a patient with inclusion body myositis - a case report

2020 ◽  
Vol 77 (11) ◽  
pp. 1216-1220
Author(s):  
Jelena Stevanovic ◽  
Maja Vulovic ◽  
Danijela Pavicevic ◽  
Mihailo Bezmarevic ◽  
Andjelka Stojkovic ◽  
...  
Keyword(s):  
Case Report ◽  
Physical Therapy ◽  
Inclusion Body ◽  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Inclusion Body Myositis ◽  
Clinical Symptoms ◽  
Inflammatory Myopathy ◽  
Functional Abilities ◽  
Progressive Muscle Weakness

Introduction. Inclusion body myositis (IBM) is a rare form of inflammatory myopathy with a slowly progressive course. It is manifested by early weakness and atrophy of skeletal muscles, especially forearm muscles and the quadriceps. At the very beginning of the disease, clinical symptoms are not pronounced, therefore it is difficult to diagnose. Case report. A forty-eight-year-old female patient visited her doctor due to the weakness of muscles in arms and legs. Five years prior to this, she was treated by a neurologist and a physiatrician on several occasions with different diagnoses for progressive muscle weakness. During the last hospitalization, IBM was diagnosed after the muscle biopsy findings. After the diagnosis, the patient underwent intensive physical therapy in order to preserve the ability to independently perform everyday activities and stability of walk. Conclusion. IBM is a rare clinical entity which often takes several years to be diagnosed. Progressive muscle weakness in elderly should point to possible IBM diagnosis, which is only confirmed by muscle biopsy. Physical therapy has a significant role in the treatment as it leads to improvement of functional abilities of the patients in their daily activities, thus reducing the disability degree.

scholarly journals EP23 Symptomatic sarcoid myopathy: a rare extra-pulmonary manifestation of sarcoidosis

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Saadia Sasha Ali ◽  
Mark Russell ◽  
James Galloway ◽  
Ioana Onac
Keyword(s):  
Mycophenolate Mofetil ◽  
Case Report ◽  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Fdg Pet ◽  
Inflammatory Myopathy ◽  
Nemaline Myopathy ◽  
Muscle Disease ◽  
Muscle Enzymes ◽  
Muscle Involvement

Abstract Case report - Introduction Sarcoidosis is a multisystem disorder of unknown aetiology that is characterised pathologically by the presence of non-caseating granulomata. The disease is known for its multitude of presentations and can affect almost any organ system. Symptomatic skeletal muscle involvement in sarcoidosis is infrequent and occurs in < 3% of all sarcoidosis patients. We present the case of a 47-year-old male with multisystem sarcoidosis involving his lungs, eyes, and liver, who presented to our tertiary sarcoid centre with proximal muscle weakness. This case is significant as it highlights the diagnostic challenges that can arise when muscle weakness occurs on a background of sarcoidosis. Case report - Case description A 47-year-old gentleman presented to Rheumatology with a ten-year history of progressive lower extremity muscle weakness. He was known to have multisystem sarcoidosis affecting his lungs (diffuse interstitial lung disease), eyes (anterior uveitis) and liver (liver fibrosis). His sarcoidosis was initially diagnosed ten years beforehand, from confirmatory histology obtained via Endobronchial Ultrasound sampling. He was previously a keen runner; however, he had observed a gradual decline in his ability to run. Over a period of two years his mobility further deteriorated, and he required two sticks to walk. Physical examination revealed a waddling gait with wasting to his quadriceps bilaterally. He had reduced power of 2/5 on hip flexion on the Medical Research Council (MRC) muscle grading scale. There was no bulbar involvement and facial and upper extremity strength was normal. His past medical history was also remarkable for anxiety and depression. There was no family history of muscle disease. Serology revealed a Creatine Kinase (CK) of 773 IU/L (32-294 IU/L). He had an equivocal signal recognition particle (SRP) antibody result, which was later repeated and found to be negative. His EMG showed myopathic changes in his distal and proximal lower limb muscles with profuse spontaneous activity, indicating an active myopathic process. MRI of his lower limbs showed symmetrical fatty infiltration in the distal semimembranosus and short head of biceps femoris muscles with no clear oedema. A muscle biopsy showed diffuse MHC Class 1 upregulation with nemaline rods. Treatment with pulsed IV methylprednisolone was started, in addition to Mycophenolate Mofetil (MMF) as steroid therapy was not sufficient to suppress his disease. He had a reduction in his CK to 205 IU/L and no activity in his skeletal muscle on FDG-PET CT. His power improved to 3/5 on MRC grading. Case report - Discussion Three distinct patterns of muscle involvement in sarcoidosis are recognised: chronic myopathy, nodular myopathy, and acute myopathy. Symptomatic muscle disease in sarcoidosis is rare and it is important to consider other potential aetiologies of a progressive myopathy, even in a patient with established multisystem sarcoidosis. This case is interesting as there was diagnostic difficulty in ascertaining the diagnosis, which potentially included a corticosteroid-induced myopathy, SRP necrotising myopathy, or even a nemaline myopathy. Corticosteroid myopathy has a similar distribution to a sarcoid myopathy. However, the patient’s clinical phenotype, elevated muscle enzymes, EMG findings, and histological data favoured an inflammatory myositis. SRP necrotising myopathy is characterised by rapidly progressive proximal muscle weakness with necrotic muscle fibres, scant inflammation, and a significant elevation in muscle enzymes, which were not seen in this patient. The patient’s weakness was more insidious in onset, with diffuse inflammation on muscle biopsy. Nemaline rods were seen on biopsy, however these were only present in one area, which is atypical of a nemaline myopathy. Furthermore, the presence of many loculated fibres on biopsy and upregulation of MHC class 1 was more in keeping with a diagnosis of an inflammatory myopathy secondary to sarcoidosis, even in the absence of non-caseating granulomas on muscle biopsy. There are no randomised controlled trials of treatments in sarcoid myopathy. While methotrexate is most used in steroid-recalcitrant myositis, the patient’s liver fibrosis preluded this therapy, thus MMF was trialled instead. Co-existing inflammatory muscle disease with sarcoidosis has been documented infrequently in the literature. They both have overlapping symptoms with contrasting treatment strategies. In this patient, the muscle biopsy pointed to an idiopathic inflammatory myopathy (IIM) without granulomatous infiltration, it is intriguing to consider whether treatment of an IIM with intravenous immunoglobulin or rituximab would have resulted in better clinical outcomes. Case report - Key learning points Key points: Even though symptomatic muscle involvement in sarcoidosis is uncommon, a sarcoid myopathy should be suspected in symptomatic patients with known or suspected pulmonary or extrapulmonary sarcoidosis. In patients without known sarcoidosis but with unexplained muscle symptoms, particularly in the setting of a multisystem illness, sarcoid myopathy should be considered in the differential diagnosis.MRI and muscle biopsy are useful in distinguishing a sarcoid myopathy from a corticosteroid-induced myopathy as illustrated in this case.Fluorine 18 fluorodeoxyglucose (FDG) PET/CT is sensitive for assessment of the inflammatory activity of sarcoidosis in any organ. In this patient, FDG-PET was useful in evaluating active sarcoid lesions and evaluating the therapeutic effects of Mycophenolate Mofetil on his sarcoid myopathy. Although there is limited data to guide treatment in a sarcoid myopathy, Mycophenolate Mofetil can be used as an alternative to Methotrexate.

scholarly journals The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients

2021 ◽  
Vol 14 ◽  
pp. 175628642098525
Author(s):  
Diana Lehmann Urban ◽  
Mohamed Mohamed ◽  
Albert C. Ludolph ◽  
Jan Kassubek ◽  
Angela Rosenbohm
Keyword(s):  
Genetic Testing ◽  
Muscle Biopsy ◽  
Inflammatory Myopathy ◽  
Diagnostic Procedures ◽  
Controlled Study ◽  
Mri Findings ◽  
Muscle Mri ◽  
Fatty Replacement ◽  
Paravertebral Muscles ◽  
The Impact

Background and aims: The role of muscle magnetic resonance imaging (MRI) in the diagnostic procedures of myopathies is still controversially discussed. The current study was designed to analyze the status of qualitative muscle MRI, electromyography (EMG), and muscle biopsy in different cases of clinically suspected myopathy. Methods: A total of 191 patients (male: n = 112, female: n = 79) with suspected myopathy who all received muscle MRI, EMG, and muscle biopsy for diagnostic reasons were studied, with the same location of biopsy and muscle MRI (either upper or lower extremities or paravertebral muscles). Muscle MRIs were analyzed using standard rating protocols by two different raters independently. Results: Diagnostic findings according to biopsy results and genetic testing were as follow: non-inflammatory myopathy: n = 65, inflammatory myopathy (myositis): n = 51, neurogenic: n = 18, unspecific: n = 23, and normal: n = 34. The majority of patients showed myopathic changes in the EMG. Edema, atrophy, muscle fatty replacement, and contrast medium enhancement (CM uptake) in MRI were observed across all final diagnostic groups. Only 30% of patients from the myositis group ( n = 15) showed CM uptake. Discussion and conclusion: The study provides guidance in the definition of the impact of muscle MRI in suspected myopathy: despite being an important diagnostic tool, qualitative MRI findings could not distinguish different types of neuromuscular diagnostic groups in comparison with the gold standard histopathologic diagnosis and/or genetic testing. The results suggest that neither muscle edema nor gadolinium enhancement are able to secure a diagnosis of myositis. The current results do not support qualitative MRI as aiding in the diagnostic distinction of various myopathies. Quantitative muscle MRI is, however, useful in the diagnostic procedure of a suspected neuromuscular disease, especially with regard to assessing progression of a chronic myopathy by quantification of the degree of atrophy and fatty replacement and in exploring patterns of muscle group involvements in certain genetic myopathies.

scholarly journals Bone mineral density and explanatory factors in children and adults with juvenile dermatomyositis at long term follow-up; a cross sectional study

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Henriette Schermacher Marstein ◽  
Kristin Godang ◽  
Berit Flatø ◽  
Ivar Sjaastad ◽  
Jens Bollerslev ◽  
...  
Keyword(s):  
Bone Turnover ◽  
Inflammatory Markers ◽  
Juvenile Dermatomyositis ◽  
Inflammatory Myopathy ◽  
Disease Onset ◽  
Whole Body ◽  
Mineral Density ◽  
Z Scores

Abstract Background Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy in children and adolescents. Both the disease and its treatment with glucocorticoids may negatively impact bone formation. In this study we compare BMD in patients (children/adolescence and adults) with long-standing JDM with matched controls; and in patients, explore how general/disease characteristics and bone turnover markers are associated with BMD. Methods JDM patients (n = 59) were examined median 16.8y (range 6.6–27.0y) after disease onset and compared with 59 age/sex-matched controls. Dual-energy X-ray absorptiometry (DXA) was used to measure BMD of the whole body and lumbar spine (spine) in all participants, and of ultra-distal radius, forearm and total hip in participants ≥20y only. Markers of bone turnover were analysed, and associations with outcomes explored. Results Reduced BMD Z-scores (<−1SD) were found in 19 and 29% of patients and 7 and 9% of controls in whole body and spine, respectively (p-values < 0.05). BMD and BMD Z-scores for whole body and spine were lower in all patients and for < 20y compared with their respective controls. In participants ≥20y, only BMD and BMD Z-score of forearm were lower in the patients versus controls. In patients, BMD Z-scores for whole body and/or spine were found to correlate negatively with prednisolone use at follow-up (yes/no) (age < 20y), inflammatory markers (age ≥ 20y) and levels of interferon gamma-induced protein 10 (IP-10) (both age groups). In all patients, prednisolone use at follow-up (yes/no) and age ≥ 20y were independent correlates of lower BMD Z-scores for whole body and spine, respectively. Conclusion In long-term JDM, children have more impairment of BMD than adults in spine and whole-body. Associations with BMD were found for both prednisolone and inflammatory markers, and a novel association was discovered with the biomarker of JDM activity, IP-10.

Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children

2021 ◽  
Author(s):  
Christina E. Hoei-Hansen ◽  
Marie L. B. Tygesen ◽  
Morten Dunø ◽  
John Vissing ◽  
Martin Ballegaard ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Muscle Biopsy ◽  
Neuromuscular Disease ◽  
Genetic Diagnosis ◽  
Congenital Myasthenic Syndrome ◽  
Diagnostic Quality ◽  
Pathogenic Variants ◽  
Combined Use ◽  
Myasthenic Syndrome ◽  
Size Variability

Abstract Aim The diagnostic workup in patients with delayed motor milestones suspected of having either myopathy or a congenital myasthenic syndrome is complex. Our hypothesis was that performance of a muscle biopsy and neurophysiology including stimulated single-fiber electromyography during an anesthetic procedure, combined with genetic testing has a high diagnostic quality. Materials and Methods Clinical and paraclinical data were retrospectively collected from 24 patients aged from 1 month to 10 years (median: 5.2 years). Results Neurophysiology examination was performed in all patients and was abnormal in 11 of 24. No patients had findings suggestive of a myasthenic syndrome. Muscle biopsy was performed in 21 of 24 and was normal in 16. Diagnostic findings included nemaline rods, inclusion bodies, fiber size variability, and type-II fiber atrophy. Genetic testing with either a gene panel or exome sequencing was performed in 18 of 24 patients, with pathogenic variants detected in ACTA1, NEB, SELENON, GRIN2B, SCN8A, and COMP genes. Conclusion Results supporting a neuromuscular abnormality were found in 15 of 24. In six patients (25%), we confirmed a genetic diagnosis and 12 had a clinical neuromuscular diagnosis. The study suggests that combined use of neurophysiology and muscle biopsy in cases where genetic testing does not provide a diagnosis can be useful in children with delayed motor milestones and clinical evidence of a neuromuscular disease.

scholarly journals Reevaluating Muscle Biopsies in the Diagnosis of Pompe Disease: A Corroborative Report

2016 ◽  
Vol 43 (4) ◽  
pp. 561-566 ◽  
Author(s):  
Angela Genge ◽  
Natasha Campbell
Keyword(s):  
Genetic Testing ◽  
Muscle Biopsy ◽  
Pompe Disease ◽  
Acid Maltase Deficiency ◽  
Biopsy Result ◽  
Blood Samples ◽  
Acid Maltase ◽  
Muscle Biopsies ◽  
Blood Spot ◽  
Rule Out

AbstractBackground: Previous reports suggest that although a diagnostic muscle biopsy can confirm the presence of Pompe disease, the absence of a definitive biopsy result does not rule out the diagnosis. Methods: In this study, we reviewed patients with a limb-girdle syndrome who demonstrated nonspecific abnormalities of muscle, without evidence of the classical changes of acid maltase deficiency. These patients were rescreened for Pompe disease using dried blood spot (DBS) testing. Results: Twenty-seven patients provided blood samples for the DBS test. Four patients underwent subsequent genetic testing. Genetic analysis demonstrated that one patient tested positive for Pompe disease and one patient had one copy of a pathogenic variant. Conclusions: In conclusion, the ability of a diagnostic muscle biopsy to definitively rule out the presence of Pompe disease is limited. There is a role for a screening DBS in all patients presenting with a limb-girdle syndrome without a clear diagnosis.

Juvenile dermatomyositis: a case of delayed recognition with unusual complication of nephrocalcinosis

2021 ◽  
Vol 14 (4) ◽  
pp. e241152
Author(s):  
Geminiganesan Sangeetha ◽  
Divya Dhanabal ◽  
Saktipriya Mouttou Prebagarane ◽  
Mahesh Janarthanan
Keyword(s):  
Muscle Weakness ◽  
Juvenile Dermatomyositis ◽  
Inflammatory Myopathy ◽  
Unusual Complication ◽  
Ultrasound Screening ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Calcinosis Cutis ◽  
First Case ◽  
Medullary Nephrocalcinosis

Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is characterised by the presence of proximal muscle weakness, heliotrope dermatitis, Gottron’s papules and occasionally auto antibodies. The disease primarily affects skin and muscles, but can also affect other organs. Renal manifestations though common in autoimmune conditions like lupus are rare in JDM. We describe a child whose presenting complaint was extensive calcinosis cutis. Subtle features of proximal muscle weakness were detected on examination. MRI of thighs and a muscle biopsy confirmed myositis. Nephrocalcinosis was found during routine ultrasound screening. We report the first case of a child presenting with rare association of dermatomyositis, calcinosis cutis and bilateral medullary nephrocalcinosis.

scholarly journals A Rare Case of Sporadic Inclusion Body Myositis with Atypical Presentation

2021 ◽  
Author(s):  
Manokaran Chinnusamy ◽  
Sathiyanarayanan Janakiraman ◽  
Ramesh Bala Arivazhagan
Keyword(s):  
Inclusion Body ◽  
Muscle Biopsy ◽  
Inclusion Body Myositis ◽  
Rare Case ◽  
Immunosuppressive Agents ◽  
Inflammatory Myopathy ◽  
Atypical Presentation ◽  
Sporadic Inclusion Body Myositis

AbstractSporadic inclusion body myositis (IBM) is the most common acquired inflammatory myopathy that occurs after the age of 50 years. IBM typically involves wrist and finger flexors and quadriceps, but all sporadic IBM may not have the classic presentation of distal arm and proximal leg involvement. Treating physicians must be aware of this atypical presentation to avoid the misdiagnosis of IBM, leading to treatment with immunosuppressive agents. The aim of this study is to increase the awareness among physicians about the atypical presentation of IBM and to emphasize the importance of muscle biopsy in such cases. Here we report a case of 52 years old male diagnosed with sporadic IBM by muscle biopsy presented with atypical presentation.

Abstract 18343: Antisynthetase Syndrome-Associated Myocarditis

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Kavita Sharma ◽  
Ana-Maria Orbai ◽  
Dipan Desai ◽  
Oscar H Cingolani ◽  
Marc K Halushka ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Cardiac Involvement ◽  
Troponin I ◽  
Acute Decompensated Heart Failure ◽  
Inflammatory Myopathy ◽  
Palliative Therapy ◽  
Left Ventricular ◽  
Caucasian Woman ◽  
Free T4 ◽  
Lower Extremity Weakness

Background: The antisynthetase (AS) syndrome is characterized by fever, non-erosive arthritis, inflammatory myopathy, interstitial lung disease, cutaneous involvement, and antibody specificity. Cardiac involvement is extremely rare; we present one of two cases of AS syndrome-associated myocarditis from our institution. Clinical Case: A 51 year old woman with history of inflammatory arthritis and hypothyroidism presented with 6 months of increasing fatigue, bilateral proximal muscle weakness, leg edema, dyspnea, and orthopnea. Physical examination revealed a Caucasian woman, markedly dyspneic while speaking, with signs of acute decompensated heart failure (HF) including elevated jugular venous pulse, bilateral rales, S3 gallop, and massive peripheral edema with bilateral proximal upper and lower extremity weakness. Diagnostic Testing: Her muscle weakness was concerning for myopathy along with new HF symptoms. Laboratory studies revealed elevations of serum creatine kinase, aldolase, and cardiac troponin I. Thyroid stimulating hormone and free T4 were consistent with subclinical hypothyroidism. MRI and electromyography of the lower extremities and skeletal muscle biopsy were consistent with myositis. Anti-Jo1 antibody was positive, confirming the diagnosis of AS syndrome. Electrocardiogram showed sinus rhythm and low-voltages in all leads. Echocardiography showed severely depressed biventricular function, left ventricular (LV) ejection fraction of 10-15%, normal LV cavity size and wall thickness. Cardiac MRI and endomyocardial biopsy revealed active myocarditis. She received pulse dose corticosteroid therapy, intravenous furosemide, inotropic therapy, and hemofiltration therapy for renal failure. She was discharged home on intravenous dobutamine palliative therapy. Two months later, she presented in cardiogenic shock, failed intensive medical therapy, and died after a cardiac arrest. Conclusions: AS syndrome is a rare entity not typically associated with cardiac involvement. We report one of only two known cases of AS syndrome-associated myocarditis, to our knowledge. Based on these observations, we suggest that myocarditis be considered and evaluated for in patients with AS syndrome presenting with HF.

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