This book describes the genetic diagnostic entities of neuromuscular disorders. Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis.
This collection of neuromuscular disorders features the different clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients.
Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Innehållsförteckning
Section 1 Muscular Dystrophies .- Duchenne Muscular Dystrophy.- Duchenne Muscular Dystrophy carrier.- Becker Muscular Dystrophy.- Emery-Dreifuss Muscular Dystrophy type 1.- Emery-Dreifuss Muscular Dystrophy type 2.- Limb Girdle Muscular Dystrophy type 1B.- Limb Girdle Muscular Dystrophy type 1C.- Limb Girdle Muscular Dystrophy type 1F.- Limb Girdle Muscular Dystrophy type 2A.- Limb Girdle Muscular Dystrophy type 2B.- Limb Girdle Muscular Dystrophy type 2C.- Limb Girdle Muscular Dystrophy type 2D.- Limb Girdle Muscular Dystrophy type 2E.- Limb Girdle Muscular Dystrophy type 2F.- Limb Girdle Muscular Dystrophy type 2I.- Limb Girdle Muscular Dystrophy type 2K.- Limb Girdle Muscular Dystrophy type 2N.- Congenital Muscular Dystrophy type 1A.- Congenital Muscular Dystrophy type 1C.- Congenital Muscular Dystrophy with rigid spine.- Congenital Muscular Dystrophy with integrin-alpha-7 deficiency.- Congenital Muscular Dystrophy, Ullrich type.- Bethlem myopathy.- Facio Scapulo Humeral Muscular Dystrophy type 1A.- Facio Scapulo Humeral Muscular Dystrophy type 2.- Section 2: Congenital Myopathies .- Congenital Multi-Mini-Core Myopathy.- Congenital Central-Core Myopathy with Malignant Hyperthermia.- Congenital Centronuclear Myopathy type 1.- Congenital Hyaline Body Myopathy.- Congenital Myotubular Myopathy.- Congenital Nemaline Myopathy type 2.- Congenital Fiber Type Disproportion type 1.- Congenital Fiber Type Disproportion.- Congenital Myofibrillar Myopathy type 1.- Congenital Myofibrillar Myopathy type 6.- Congenital Tubular Aggregate Myopathy.- Hereditary Inclusion Body Myopathy type 2.- Section 3: Ion Channel Disorders .- Myotonic Dystrophy type 1, Steinert Disease.- Congenital Myotonic Dystrophy.- Myotonic Dystrophy type 2, Proximal Myotonic Myopathy.- Congenital Myotonia, Thomsen Disease.- Hyperkalemic Periodic Paralysis.- Hypokalemic Periodic Paralysis type 1.- Slow-channel Congenital Myasthenic Syndrome.- Congenital Myasthenic Syndrome.- Brody Disease.- Section 4: Metabolic Myopathies .- Glycogenosis type 2, Pompe Disease.- Glycogenosis type 3, Cori-Forbes Disease.- Glycogenosis type 5, Mc Ardle Disease.- Danon Disease.- Kearns-Sayre Syndrome.- Chronic Progressive External Ophthalmoplegia.- MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like) .- Leigh Syndrome due to COX Deficiency.- Mitochondrial Encephalopathy with COX Deficiency.- Coenzyme Q10 Deficiency.- Multiple Symmetrical Lipomatosis.- NARP (Neuropathy, Ataxia, Retinitis Pigmentosa) .- SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis) .- Systemic Primary Carnitine Deficiency.- Neutral Lipid Storage Disease with Ichthyosis.- Neutral Lipid Storage Disease with Myopathy.- Multiple Acyl-Co A Dehydrogenase Deficiency.- Carnitine-Palmitoyl-Transferase-II Deficiency.- Niemann-Pick Disease type C1.- Section 5: Neurogenic Disorders .- Spinal Muscular Atrophy type 1, Werdnig-Hoffmann Disease.- Spinal Muscular Atrophy type 2.- Spinal Muscular Atrophy type 3, Kugelberg-Welander Disease.- Spinal Bulbar Muscular Atrophy, Kennedy Disease.- Charcot-Marie-Tooth Disease type 1A.- Charcot-Marie-Tooth Disease type 1B.- Charcot-Marie-Tooth Disease neuronal type.- Charcot-Marie-Tooth Disease type 4A.- Charcot-Marie-Tooth Disease with pyramidal features.- Charcot-Marie-Tooth Disease type X1.- Distal Spinal Muscular Atrophy.- Hereditary Neuropathy with Pressure Palsies.- Friedreich Ataxia.- Spastic Ataxia, Charlevoix-Saguenay type.- Ataxia-Telangiectasia, Louis-Bar Syndrome.- Spastic Paraparesis type 4.- Spastic Paraparesis type 7.- Optic Atrophy Plus Syndrome.- Amyotrophic Lateral Sclerosis type 1.- Amyotrophic Lateral Sclerosis.
Om författaren
Corrado Angelini, M.D. Università di Padova Dipartimento di Neuroscienze Padova, Italy and IRCCS S. Camillo Lido Venice, Italy Corrado Angelini has been trained at the Mayo Clinic where he worked on diagnostic features of metabolic disorders, contributed to the description of late-onset GSD II patients and discovered in man carnitine deficiency. He became Associate and Full Professor in Padova and contributed to the description of beta-sarcoglycanopathy, dysferlinopathy and Limb Girdle 1F.
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