Miscellaneous Topics
Nirmal Raj Gopinathan in Clinical Orthopedic Examination of a Child, 2021
Muscular dystrophies are rare genetic disorders seen in children.2 Myopathies can be of genetic origin, or they can be secondary to inflammatory, endocrinological, nutritional, and drug-induced causes. The muscular dystrophies that are encountered in clinical practice are Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and congenital muscular dystrophy (CMD). Of these, DMD and BMD are seen in males (X-linked inheritance). DMD is the most common hereditary neuromuscular disease affecting all races and ethnic groups.2 From the perspective of clinical presentation, DMD and BMD appear in preschool children. While a child with DMD tends to become bedridden by 10–12 years, those with BMD tend to be ambulatory even into their adulthood. Parents consult a physician with complaints regarding their child’s weakness, inability to walk in a previously walking child, frequent falls, difficulty in climbing stairs, and abnormal swelling of the calf musculature.
Non-Congenital Acquired Myopathies
Maher Kurdi in Neuromuscular Pathology Made Easy, 2021
Myotoxicity from drugs or toxins may occur due to several mechanisms, including direct injury to muscle sarcolemma or affecting sarcolemmal proteins via specific immunopathological processes. Although drug-induced myopathies are uncommon, few cases have been reported in the literature with unique myopathological change. Clinical presentations range from focal weakness due to localized effects to painful proximal myopathy or necrotizing myopathy, to painless muscle weakness. The progression of the disease is usually slow and rarely ends with complete loss of muscle power. Some drugs may produce characteristic histological features in muscle biopsy or electron microscopy. The most common drugs causing myopathy in clinical practice are statin, steroid, hydroxychloroquine, colchicine, and zidovudine.
The locomotor system
C. Simon Herrington in Muir's Textbook of Pathology, 2020
This group includes polymyositis (Figure 13.47) and dermatomyositis, disorders thought to have an autoimmune aetiology. In polymyositis cytotoxic T cells attack the muscle fibre, whereas in dermatomyositis autoantibodies are deposited in intramuscular blood vessels. Both conditions may affect adolescents or adults and usually have a slow onset over weeks to months, so that the patient often notices the weakness only when it is sufficiently severe that climbing stairs or lifting the arms above the head is difficult. In dermatomyositis there is a rash over the eyelids, cheekbones, sternum, elbows, knees, and small joints of the hand. In severe cases, especially in adolescents, calcific deposits may affect damaged muscles. In some patients cardiac involvement, especially of the conducting system, may cause sudden death. Others develop pulmonary fibrosis. About a fifth of patients have a connective tissue disorder such as systemic lupus erythematosus, systemic sclerosis, or Sjögren's syndrome. The incidence of common malignancies is slightly increased in middle-aged patients with these myopathies.
Inflammatory myopathy in adults, health-related quality of life, and wellbeing: a round trip between immune disease and wellness
Published in Expert Review of Clinical Immunology, 2023
Immaculada Armadans-Tremolosa, Albert Selva-O’Callaghan
The second step would be to correct or modify the factors identified to improve wellbeing in our patients. A multidisciplinary approach including the participation of various health professionals, such as nurses, nutritionists, psychologists, and speech, occupational, or physical therapists, could be a good strategy to achieve wellbeing in myositis patients. Moreover, the role of supporting groups in patients with chronic diseases, especially with myositis may be of great value to help to modify the factors which are involved in the HRQoL. In Spain although there are groups of support for other systemic autoimmune diseases such as scleroderma, in myositis is still at the very onset. In a not published randomized controlled study (previous mentioned IRB, PR(AG)398/2022) carried out in our unit aimed to identify if the intervention on several environmental factors improved the HRQoL of the patients who participated, some patients decided to launch an association, that is currently on progress. We are eager to see the consolidation of this association for the support of adult patients with myositis. This can have positive repercussions on the disease itself by mechanisms that are not completely understood, but that may involve the immune system and several cytokines such as interferons and IL-6. Immunological factors are reported to be essential in the pathogenesis of inflammatory myopathies.
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
Congenital myopathies are a clinically and genetically heterogeneous group of muscle diseases that begin generally in childhood. They present with motor weakness, hypotonia, and motor development delay with a static or slow progression. The ophthalmological features include ptosis and ophthalmoparesis. Congenital myopathies can be classified based on their histology. The five types are centronuclear myopathy (subtypes: myotubular myopathy and autosomal centronuclear myopathy), nemaline myopathy, core myopathy, myosin storage myopathy, and congenital fiber-type disproportion.1In the last 15 years, more than 20 genes causing these diseases have been identified.2 These genes are implicated in an abnormal excitation-contraction coupling, malformation of contractile filaments, or regulation of calcium homeostasis.3,4 However, there is an important overlap, as different mutations in the same gene can cause distinct muscle pathologies, and mutations in different genes can cause very similar phenotypic defects5,6 (Table 1).
Inflammatory myopathies: shedding light on promising agents and combination therapies in clinical trials
Published in Expert Opinion on Investigational Drugs, 2021
Rachel Zeng, Stefanie Glaubitz, Jens Schmidt
Therapy development for inflammatory myopathies remains a challenge due to the rarity and heterogeneity of the disease. Although many pharmacological agents have been proposed, only few have been adequately evaluated in larger, well-controlled trials. Current development focuses on biologicals that target specific components of the immunological response, or – in IBM–, of nonimmune-mediated pathways. The use of standardized response criteria and myositis classification schemes is of great benefit to the conduction of clinical trials and the interpretation of study data. Future investigations will depend on sound scientific research on disease mechanisms and well-designed controlled clinical trials, which will hopefully translate into better clinical outcomes for myositis patients in the future.
Related Knowledge Centers
- Muscle
- Muscle Weakness
- Musculoskeletal Disorder
- Nervous System
- Neuromuscular Disease
- Muscle Cell
- Peripheral Neuropathy
- Pathos
- Cramp
- Spasm