Keywords Myotonic dystrophy, congenital myotonic dystrophy, childhood myotonic dystrophy, myotonic dystrophy type 1, myotonic dystrophy type 2, spliceopathy, antisense oligonucleotides   Clinical Presentation and Phenotypes Brief Overview of History and…

Keywords Emery-Dreifuss, dystrophy, contractures, cardiac, emerin, laminopathy   Introduction Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder presenting in childhood or adolescence with relatively benign neuromuscular features and potentially…

Keywords congenital myopathy, nemaline myopathy, central core disease, multiminicore myopathy, myofibrillar myopathy, centronuclear myopathy, myotubular myopathy, titin myopathy, autophagic vacuolar myopathy, congenital fiber type disproportion   The congenital myopathies are…

Keywords Genetic muscle disease, limb-girdle muscular dystrophy, muscular dystrophy, myopathy, muscle, genetic   Introduction Historical Background and Definition The limb-girdle muscular dystrophies (LGMDs) are a diverse and heterogeneous group of…

Keywords Systemic diseases, hyperthyroidism, thyrotoxic myopathy, hypothyroidism, parathyroid diseases, Cushing’s syndrome, renal failure, hypokalemia, licorice, HIV, intensive care unit myopathies, medication-related myopathies, inflammatory myopathies   Introduction When evaluating a child…

Keywords Facioscapulohumeral dystrophy, scapular winging, muscular dystrophy, infantile FSHD   Introduction Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy after dystrophinopathies and myotonic muscular dystrophy. It affects…

Keywords Distal myopathy, distal dystrophy, clinical presentation, phenotype, muscle imaging, muscle pathology, diagnostics, molecular genetics, molecular pathomechanisms, pathophysiology, therapy   Early Onset Distal Myopathies Laing Distal Myopathy (LDM, MPD1) Clinical…

Keywords Dystrophinopathies, DMD gene, DMD gene mutations, dystrophin, Duchenne muscular dystrophy, Becker muscular dystrophy, DMD-associated dilated cardiomyopathy, manifesting DMD/BMD carrier females, genetic counseling in dystrophinopathies   Introduction Dystrophinopathies are X-linked…

Keywords Congenital muscular dystrophies, merosin-deficient, dystroglycanopathies, collagen VI deficiency, SEPN1 CMD, Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama CMD   Introduction The identification of several new genes responsible for different forms of…

Keywords Dystrophinopathies, Duchenne, corticosteroids, management, cardiac management, respiratory management, transition, Becker   Introduction This chapter reviews the current management recommendations for the skeletal muscle predominant disorders caused by mutations in…