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Total 442 results found since Jan 2013.
Nemaline Rod/Cap Myopathy Due to Novel Homozygous < em > MYPN < /em > Mutations: The First Report from South Asia and Comprehensive Literature Review
CONCLUSIONS: This study elaborates on two patients with homozygous MYPN pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the first from South Asia. The clinical phenotype reiterates the mild form of nemaline rod/cap myopathy. A comprehensive literature review is presented.PMID:34184449 | PMC:PMC8242322 | DOI:10.3988/jcn.2021.17.3.409
Source: Journal of Clinical Neurology - June 29, 2021 Category: Neurology Authors: Kiran Polavarapu Mainak Bardhan Ram Murthy Anjanappa Seena Vengalil Veeramani Preethish-Kumar Leena Shingavi Tanushree Chawla Saraswati Nashi Dhaarini Mohan Gautham Arunachal Thenral S Geetha Vedam Ramprasad Atchayaram Nalini Source Type: research
Case Report: Digital Ulcers & Weight Loss in a Pediatric Patient
Juvenile dermatomyositis (JDM) is a childhood form of inflammatory myopathy affecting children younger than 18 years. The diagnosis of JDM is based on characteristic clinical features of proximal muscle weakness, skin rash, elevated muscle enzymes, magnetic resonance imaging and muscle biopsy.1 Autoantibodies seen in patients with inflammatory myopathy are not only associated with particular phenotypes... [Read More]
Source: The Rheumatologist - June 13, 2021 Category: Rheumatology Authors: Anusha Vuppala, MD, & Sarwat Umer, MD Tags: Conditions interstitial lung disease (ILD) juvenile dermatomyositis Pediatric Source Type: research
P035 Inflammatory myopathy and metabolic disorders causing myopathies
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 accumu lation 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....
Source: Rheumatology - April 26, 2021 Category: Rheumatology Source Type: research
Not just eosinophilic fasciitis
J Med Life. 2021 Jan-Mar;14(1):121-124. doi: 10.25122/jml-2021-0015.ABSTRACTThis case report describes a rare case of progressive muscle weakness in a patient treated for eosinophilic fasciitis (EF) for many years before being diagnosed with a second autoimmune disease: dermatomyositis. Our case is a report of a 65-year-old male diagnosed with eosinophilic fasciitis 7 years before being evaluated in our service at Mayo Clinic in Jacksonville, Florida, due to progressive muscle weakness despite the chronic treatment with methotrexate. Contrast-enhanced magnetic resonance imaging of the lower extremity showed enhancement thr...
Source: Journal of Medicine and Life - March 26, 2021 Category: General Medicine Authors: Razvan Chirila Elena Raluca Cristea Monica Roxana Purcarea Laura Carina Tribus Source Type: research
