Background: The significance of muscle biopsy as a diagnostic tool in idiopathic inflammatory myopathies (IIM) remains elusive. We aimed to determine the diagnostic weight that has been given to muscle biopsy in patients with suspected IIM, particularly in terms of clinical diagnosis and therapeutic decisions.
Material And Methods: In this retrospective multicentric study, we analyzed muscle biopsy results of adult patients with suspected IIM referred to a tertiary center between January 1, 2007, and October 31, 2021.
Background: There is an urgent need to better understand the mechanisms underlying acute and long-term neurological symptoms after COVID-19. Neuropathological studies can contribute to a better understanding of some of these mechanisms.
Methods: We conducted a detailed postmortem neuropathological analysis of 32 patients who died due to COVID-19 during 2020 and 2021 in Austria.
Background And Purpose: Hereditary myopathies with limb-girdle muscular weakness (LGW) are a genetically heterogeneous group of disorders, in which molecular diagnosis remains challenging. Our aim was to present a detailed clinical and genetic characterization of a large cohort of patients with LGW.
Methods: This nationwide cohort study included patients with LGW suspected to be associated with hereditary myopathies.
Background And Purpose: Since the outbreak of the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pandemic, several reports indicated neurological involvement in COVID-19 disease. Muscle involvement has also been reported as evidenced by creatine kinase (CK) elevations and reports of myalgia.
Methods: Creatine kinase, markers of inflammation, pre-existing diseases and statin use were extracted from records of Austrian hospitalised COVID-19 patients.
A 61 year old man with facial diplegia, quadruparesis, tongue atrophy/fasciculations, bulbar speech, muscle weakness/wasting, hypotonia, tremor, dysdiadochokinesia, absent tendon reflexes, fasciculations, and gynecomastia, received immunoglobulins for suspected immune-neuropathy with limited benefit. After reconsideration, Kennedy disease was diagnosed upon 44 CAG repeats in . In conclusion, immunoglobulins exhibit limited benefit on immune-neuropathy in patients with coexisting KD.
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