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…
Keywords Leprosy, leprosy diagnosis, leprosy neuropathy, leprosy reaction, leprosy neuritis Introduction Leprosy is a chronic infectious disease caused by Mycobacterium leprae ( M. leprae ), an acid-fast, Gram-positive, rod-shaped,…
Keywords Toxic neuropathy, cisplatin, vincristine, paclitaxel, chloroquine, metronidazole, nitrofurantoin, colchicine, thalidomide, pyridoxine, hexane, organophosphates, thallium, arsenic, buckthorn Introduction In a sense, all peripheral nervous system (PNS) disorders caused by…
Keywords Guillain-Barré syndrome, flaccid paralysis, demyelinating, axonal, neuropathy, pediatric, tick paralysis Introduction The acute polyneuropathies are a group of acquired, generally immune-mediated or infectious disorders causing dysfunction and sometimes…
Keywords Inherited metabolic diseases, sphingolipidoses, glycoproteinoses, amino acids, fatty acids, mitochondrial diseases, peroxisomal diseases, lipids, glycogen storage diseases, Leigh disease Introduction Peripheral neuropathy is associated with numerous inherited metabolic…
