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…
Keywords Infantile botulism, Lambert-Eaton myasthenic syndrome, LEMS, neuromuscular transmission disorders, myasthenia, myopathy Infant Botulism Botulism is derived from the Latin botulus , for sausage. Van Ermengem in 1897 isolated…
Keywords Systemic disease, renal failure, diabetes mellitus, critical illness polyneuropathy, paraneoplastic, vitamin deficiencies, connective tissue diseases Introduction There is a clear distinction between a peripheral neuropathy that is clinically…
Keywords CIDP, peripheral nerve, inherited neuropathies, electrodiagnosis, IVIg, plasma exchange Epidemiology Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) comprises a small but important subset of chronic childhood polyneuropathies. One series identified…
