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Muscle Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Kourosh Rezania, Peter Pytel, Betty Soliven
Muscular dystrophies: Endomysial inflammatory infiltrate is often seen in facioscapulohumeral dystrophy, dysferlinopathy, calpainopathy, and some congenital myopathies.Myotonic dystrophy type 2 typically presents with proximal > distal weakness.
Neuromuscular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Unless the pattern of inheritance within a particular family is clear-cut, genetic counselling for the heterogeneous group of congenital myopathies (Table 13.2) should not be undertaken without a clear molecular diagnosis. This may require a muscle biopsy rather more often than is now true for the muscular dystrophies, although accurate molecular diagnoses can increasingly be made on the basis of DNA-based diagnostics. There can be some overlap of clinical features with the (more progressive) muscular dystrophies (e.g. in Bethlem myopathy). Discussion with colleagues at an appropriate expert centre may be very helpful.
Muscular dystrophy and arthritis
Published in Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize, Developmental and Adapted Physical Education, 2019
Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize
Skeletal neuromuscular disease is characterized by a persistent progressive deterioration of striated muscle tissue. Muscular dystrophy (MD) is distinguished from other neuromuscular diseases by four criteria: (1) inflammatory myopathy, (2) genetic base for the disorder, (3) progressive muscle weakness, and (4) degeneration of muscle fibers (NINDS, 2013). With the disease, muscle cells degenerate, and fat and fibrous tissue emerge to replace the muscle tissue (Sarnac, 1992). Muscular dystrophies are a group of unrelated diseases transmitted by various genetic traits with varying clinical courses and characteristics.
Proteomic profiling of carbonic anhydrase CA3 in skeletal muscle
Published in Expert Review of Proteomics, 2021
Paul Dowling, Stephen Gargan, Margit Zweyer, Hemmen Sabir, Dieter Swandulla, Kay Ohlendieck
The muscular dystrophies are a large group of inherited disorders that primarily affect skeletal muscles [114]. X-linked muscular dystrophies are due to mutations in the DMD gene that encodes a variety of tissue-specific isoforms of the protein named dystrophin. Loss of the full-length dystrophin isoform Dp427-M causes the Duchenne type of muscular dystrophy, which is a highly progressive muscle wasting disorder of early childhood [115]. Dystrophin exists in skeletal muscles in a tight linkage with several sarcolemmal glycoproteins [116]. The core dystrophin-glycoprotein complex interacts with the basal lamina on the outside of muscle fibers and the actin membrane cytoskeleton on the inside of contractile cells forming a supramolecular membrane assembly. The dystrophin complex was shown to be involved in the integration of fiber stability, the transmission of lateral force to the extracellular matrix, the organization of the cytoskeletal network and cellular signaling events in the peripheral membrane system of skeletal muscle fibers [116].
Duchenne Muscular Dystrophy: recent advances in protein biomarkers and the clinical application
Published in Expert Review of Proteomics, 2020
Muscular dystrophies represent a large group of genetic rare disorders caused by different genetic mutations, with progressive muscle weakness symptom as the common denominator. Several muscular dystrophies share phenotypic characteristics related to deterioration of muscle function, age of onset, severity of muscle wasting symptoms, loss of mobility, short life expectancy in severe cases, and mild to severe cardiac and respiratory impairment [134]. Among them the most common muscular dystrophies besides Duchenne DMD are limb-girdle muscular dystrophy (LGMD), facioscapulohumeral muscular dystrophies (FSHD) and myotonic dystrophy 1 (DM1) with a prevalence of 0.8–6.9, 3.2–4.6 and 1.7–4.2 per 100,000, respectively [135–139]. In addition, Becker muscular dystrophy (BMD) has similarities with DMD as it is caused by in-frame mutations in the dystrophin gene [140,141]. Patients affected by these muscular dystrophies also exhibit elevated serum levels of muscle proteins like CK and CA3. CA3 is a severity marker in DMD and BMD but also a serum biomarker candidate for FSHD, LGMD, congenital, and myotonic dystrophy [70,142]. Serum ratio of lactate dehydrogenase (LDH) isoforms in patients affected by DMD, FSHD, or LGMD has been reported to be disease-specific [143]. These reports support the hypothesis that muscular dystrophies are likely to share muscle wasting biomarkers in blood.
Clinical features of children and adults with a muscular dystrophy using powered indoor/outdoor wheelchairs: disease features, comorbidities and complications of disability*
Published in Disability and Rehabilitation, 2018
Andrew Oliver Frank, Lorraine H. De Souza
The progressive muscular weakness characteristic of the muscular dystrophies determines the development of a range of clinical manifestations which depend on the disease trajectories of the different types of muscular dystrophy. Many of the common features of muscular dystrophy have been documented [2,14,25]. Individuals may also develop health conditions associated with long-term disability. These features of disability have been reported in other powered wheelchair users [17,26]. In addition, individuals may be diagnosed with other conditions unrelated to the muscular dystrophy, comorbidities, although they may reflect age-related health issues [27]. Collectively, these have been referred to as “Associated Clinical Features” (ACFs) [17,26] as it is acknowledged that some ambiguity exists due to lack of research into the development of conditions across the lifespan of disease.