Exploring quality of life in people with slowly-progressive neuromuscular disease
Sign Up to like & getrecommendations! Published in 2017 at "Disability and Rehabilitation"
DOI: 10.1080/09638288.2016.1191552
Abstract: Abstract Purpose: A qualitative work is conducted to enable later the construction of a health-related quality of life (HRQL) questionnaire for patients with slowly-progressive neuromuscular disease (NMD) such as myopathies and muscular dystrophies. Methods: The… read more here.
Keywords: slowly progressive; neuromuscular disease; progressive neuromuscular; health ... See more keywords
Anti-HMGCR myopathy: barriers to prompt recognition
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DOI: 10.1136/pn-2022-003589
Abstract: Anti-HMGCR (3-hydroxy-3-methylglutaryl coenzyme A reductase) myopathy is an immune-mediated necrotising myopathy. Atypical presentations hinder its recognition and its prompt treatment. We present two patients with atypical clinical or pathological features. A 45-year-old woman had an… read more here.
Keywords: recognition; hmgcr myopathy; hmgcr; muscle ... See more keywords
A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects
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DOI: 10.1172/jci.insight.158378
Abstract: The LAMA5 gene encodes laminin α5, an indispensable component of glomerular basement membrane and other types of basement membrane. A homozygous pathological variant in LAMA5 is known to cause a systemic developmental syndrome including glomerulopathy.… read more here.
Keywords: pulmonary defects; laminin; slowly progressive; heterozygous lama5 ... See more keywords
Teaching NeuroImages: Slowly progressive hypertrophic brachial plexopathy due to SEPT9 mutation
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DOI: 10.1212/wnl.0000000000009739
Abstract: A 51-year-old man had slowly progressive muscle wasting, weakness, and paresthesia of the right upper limb since age 21 years. His deceased mother had a single episode of painful right upper limb paresis. Examination showed… read more here.
Keywords: sept9; progressive hypertrophic; slowly progressive; brachial plexopathy ... See more keywords
A Patient with Limbic Encephalitis Associated with Anti-leucine-rich Glioma-inactivated 1 (LGI1) Antibody Presenting with Slowly Progressive Cognitive Impairment and Fluctuating Striatal Lesions
Sign Up to like & getrecommendations! Published in 2019 at "Internal Medicine"
DOI: 10.2169/internalmedicine.1082-18
Abstract: We herein report the case of a 59-year-old man with anti-leucine-rich glioma-inactivated 1 (LGI1) antibody encephalitis who presented with slowly progressive cognitive impairment mimicking dementia for over 3 years and then developed seizures. Unique brain… read more here.
Keywords: slowly progressive; striatal lesions; cognitive impairment; encephalitis ... See more keywords