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…
Keywords Congenital myasthenic syndrome, neuromuscular junction, EMG, fetal akinesia syndrome, choline acetyltransferase, ColQ, β2-laminin, acetylcholine receptor, rapsyn, agrin, MuSK, Dok-7, GFPT1, DAPGT1, ALG2, ALG14, plectin Introduction Congenital myasthenic syndromes…
Keywords Juvenile myasthenia gravis, acetylcholine receptor, thymectomy, neonatal myasthenia gravis, fetal acetylcholine receptor inactivation syndrome Background Juvenile myasthenia gravis is a major category of neuromuscular junction disorders that shares…
