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Total 442 results found since Jan 2013.
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
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
Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW
Mitochondrial diseases are a group of common inherited disorders caused by mutations in nuclear DNA or mitochondrial DNA (mtDNA); the clinical phenotype of diseases caused by mutant mtDNA is challenging owing to heteroplasmy of mtDNA and may delay diagnosis and treatment. Herein, we report the case of an adult male who slowly developed epilepsy, ataxia, dystonia, impaired cognition, and hearing impairment over 14 years in the absence of clinical myopathy. His lactate level was normal. Brain computed tomography showed calcifications of the bilateral basal ganglia, thalamus, and cerebellar dentate nuclei. Magnetic resonance ...
Source: Frontiers in Neurology - July 1, 2021 Category: Neurology Source Type: research
What Are Some Initial Evaluations for Suspected Congenital Muscle Diseases?
Discussion
Usually congenital myopathies (CM, e.g. nemaline, core, centronuclear myopathies, etc.) and congenital muscular dystrophy (CMD, e.g. LAMA2-related, collage VI-related, alpha-dystroglycan-related muscular dystrophy, etc.) have been diagnosed based on physical examination and histopathology. Traditionally CMs are due to problems with the muscle contractile apparatus and structures that assist excitation-contraction coupling. CMD are due to problems with the extracellular matrix, muscle membrane and sarcolemmal membrane. Differentiating between CM and CMD have become more blurred as genetic testing and additional r...
Source: PediatricEducation.org - January 17, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
129 Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) presenting as refractory myositis: a case series
The idiopathic inflammatory myopathy (IIMs) are a rare heterogenous group of immune-mediated diseases leading to muscle inflammation. Prompt and accurate diagnosis is important so that immunosuppressive treatment can commence and irreversible tissue damage be avoided. Other rare conditions may mimic IIM, making confirmation of diagnosis sometimes difficult.
Limb girdle muscular dystrophy type R12 (LGMD 2L, anoctaminopathy) is a recessive genetic myopathy which may present in adulthood and is caused by pathogenic variants in the ANO5 gene. Clinical pres- entation can vary from asymptomatic hyper-CK-aemia to exertional myalg...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Marago, I., Chinoy, H., Roberts, M., Roncaroli, F., Duplessis, D., Marini-Bettolo, C., Lilleker, J. Tags: Live Poster, 13 May Poster Session 1 Source Type: research
