RESUMEN
Myalgia describes pain in the skeletal muscles. According to the current German clinical guidelines from 2020 (AWMF register number: 030/051), the initial diagnostic assessment consists of the anamnesis, clinical examination, electrophysiological examination and standard laboratory tests. Additional special examinations, such as molecular genetic investigations, special laboratory tests, medical imaging and muscle biopsy are only needed in certain cases. This article focuses on rare neurological diseases that are classically associated with myalgia. In this context etiologically different diseases are considered, whereby some genetically linked diseases (fascioscapulohumeral dystrophy, FSHD, dystrophia myotonica, McArdle's disease, Pompe's disease, limb girdle muscular dystrophy) are contrasted with diseases with an (auto)immune-related pathogenesis (stiff-person syndrome, Isaacs syndrome). The aspects relevant for the diagnosis are particularly highlighted. The therapeutic aspects of the diseases are not part of this article.
Asunto(s)
Mialgia , Enfermedades Raras , Biopsia , Diagnóstico Diferencial , Humanos , Músculo Esquelético/patología , Mialgia/diagnóstico , Mialgia/etiología , Enfermedades Raras/diagnósticoRESUMEN
Myalgia describes pain in the skeletal muscles. According to the current German clinical guidelines from 2020 (AWMF register number: 030/051), the initial diagnostic assessment consists of the anamnesis, clinical examination, electrophysiological examination and standard laboratory tests. Additional special examinations, such as molecular genetic investigations, special laboratory tests, medical imaging and muscle biopsy are only needed in certain cases. This article focuses on rare neurological diseases that are classically associated with myalgia. In this context etiologically different diseases are considered, whereby some genetically linked diseases (fascioscapulohumeral dystrophy, FSHD, dystrophia myotonica, McArdle's disease, Pompe's disease, limb girdle muscular dystrophy) are contrasted with diseases with an (auto)immune-related pathogenesis (stiff-person syndrome, Isaacs syndrome). The aspects relevant for the diagnosis are particularly highlighted. The therapeutic aspects of the diseases are not part of this article.
Asunto(s)
Mialgia , Enfermedades Raras , Biopsia , Diagnóstico Diferencial , Humanos , Músculo Esquelético , Mialgia/diagnóstico , Mialgia/etiología , Mialgia/patología , Enfermedades Raras/diagnósticoRESUMEN
Chronic pain in the knee joint is most commonly caused by osteoarthritis, especially in elderly patients but can be due to other causes, such as rheumatoid arthritis. The diagnostics include an exact patient medical history and a clinical examination, which often already provide clear indications of the cause of the knee pain. Subsequently, further diagnostics can then be considered, such as radiological procedures and laboratory diagnostics. The treatment is determined by the cause and the individual patient and aims to reduce pain and to preserve the mobility of the joint. Generally, therapy consists of pain management and physiotherapy as well as alternative therapeutic procedures, mostly in combination. Proximal tibial opening wedge osteotomy can be useful; however, partial or total knee arthroplasty should only be considered when conservative treatment options have been exhausted.