Genetic Neuromuscular Disorders: A Case-Based Approach

Genetic Neuromuscular Disorders: A Case-Based Approach
Preț: 306,00 lei
Disponibilitate: la comandă (vezi secțiunea "Despre livrare")
ISBN: 9783319074993
Editura:
Anul publicării: 2014
Pagini: 384
Categoria: Neurology

DESCRIERE

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.


Table of contents

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, McArdle 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-CoA 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.

Aceasta carte descrie entitățile de diagnostic genetic de tulburari neuromusculare. Fiecare sindrom neuromuscular este prezentat punct de vedere clinic ca un studiu de caz, însoțite de o revistă diferite defecte moleculare, cercetare ADN-ul și diagnosticul diferențial.



Această colecție de tulburari neuromusculare caracteristici diferite fenotipuri clinice legate de fiecare genotip și sunt reprezentative pentru întregul spectru de tulburări musculare genetice, ajutând medicul și medicul neuromusculare pentru a face un diagnostic. Puncte cheie pentru fiecare boală genetică sunt identificate pentru a sugera un tratament, atunci când sunt disponibile, sau principalele examene clinice utile în follow-up de pacienti.



Tulburari genetice neuromusculare: o abordare bazată pe caz are ca scop medici neuromusculare și rezidenți neurologie.


Cuprins

Secțiunea 1 Muscular Dystrophies.- distrofie musculara Dystrophy.- distrofie musculara Duchenne carrier.- Becker tip Musculos Dystrophy.- Emery-Dreifuss distrofie musculara 1.- Emery-Dreifuss distrofie musculara de tip 2.- membrelor brâu Muscular Dystrophy tip 1B.- membrelor brâu tipul de distrofie musculară de tip 1C.- membrelor brâu distrofie musculara de tip 1F.- membrelor brâu distrofie musculara de tip 2A.- membrelor brâu distrofie musculara de tip 2B.- membrelor brâu distrofie musculara de tip 2C.- membrelor brâu distrofie musculara 2D.- membrelor brâu distrofie musculara tip tip 2E.- membrelor brâu distrofie musculara de tip 2F.- membrelor brâu distrofie musculara de tip 2I.- membrelor brâu distrofie musculara 2K.- tip membrelor brâu distrofie musculara de tip 2N.- congenitale distrofie musculara 1A.- congenitale distrofie musculara de tip 1C.- congenitale Muscular Dystrophy cu rigid congenital spine.- distrofie musculara cu integrin-alfa-7 deficiency.- congenitale distrofie musculara, Ullrich type.- Bethlem myopathy.- Facio scapulo humerala distrofie musculara de tip 1A.- tip Facio scapulo humerala distrofie musculara 2.- Secțiunea 2: congenitala Myopathies.- congenitala Multi-Mini-Core Myopathy.- congenitale Central-Core miopatie cu tip malign Hyperthermia.- congenitale miopatie centronuclear 1.- congenitale hialin corp Myopathy.- congenitale Myotubular Myopathy.- congenitale Nemaline miopatie tip 2. - congenitală de tip Fiber tip Disproporția 1.- congenitale Fiber tip Disproportion.- congenitale miofibrilară miopatie tip 1.- congenitale miofibrilară miopatie tip 6.- congenitale Tubular agregate Myopathy.- Incluziune ereditar tip de corp miopatie 2.- Secțiunea 3: Ion Canal tulburari. - Myotonic tip Duchenne 1, Steinert Disease.- congenitale Myotonic Dystrophy.- distrofie myotonic de tip 2, proximal Myotonic Myopathy.- congenitale miotoniei, Thomsen Disease.- hiperkalemică periodică Paralysis.- hypokalemic periodice Paralizia tip 1.- Slow-canal congenital Sindromul miastenic .- congenitale miastenic Syndrome.- Brody Disease.- Secțiunea 4: metabolic Myopathies.- glicogenoza de tip 2, Pompe Disease.- glicogenoza tip 3, Cori-Forbes Disease.- glicogenoza tip 5, McArdle Disease.- Danon Disease.- Kearns- Sayre Syndrome.- cronica progresiva extern Ophthalmoplegia.- MELAS (miopatie, encefalopatie, acidozei lactice, accident vascular cerebral, cum ar fi) .- Sindromul Leigh din cauza COX Deficiency.- mitocondrial encefalopatie cu COX Deficiency.- Coenzima Q10 Deficiency.- simetrice multiple Lipomatosis.- NARP (neuropatie, ataxie, retinita pigmentară) .- Sando (senzorială ataxic Neuropatia, dizartrie, oftalmopareza) .- sistemice primare carnitina Deficiency.- Neutru lipidic boala de stocare cu Ichthyosis.- Neutru lipidic boala de stocare cu multiple Myopathy.- acil-CoA dehidrogenaza Deficiency.- Carnitina-palmitoil-transferaza-II Deficiency.- Niemann-pick de tip Bolilor C1.- Secțiunea 5: neurogena Disorders.- Spinal Muscular atrofia de tip 1, tip Werdnig-Hoffmann Disease.- Spinal Muscular atrofia 2.- Spinal Muscular atrofia tip 3, Kugelberg-Welander Disease.- Spinal Muscular atrofia bulbara, Kennedy Disease.- Charcot-Marie-Tooth tip Boala Charcot 1A.--Marie-Tooth tip Boala Charcot 1B.--Marie-Tooth boala neuronale type.- Charcot- Marie-Tooth tip Boala Charcot 4A.--Marie-Tooth boala cu piramidal features.- Charcot-Marie-Tooth tip Bolilor X1.- distal Spinal Muscular Atrophy.- ereditar Neuropatia cu presiune Palsies.- Friedreich Ataxia.- spastica Ataxie, Charlevoix -Saguenay type.- Ataxie-telangiectasia, Louis-Bar Syndrome.- spastica parapareza tip 4.- tip parapareza spastica 7.- tip optic atrofia Plus Syndrome.- scleroza laterala amiotrofica 1.- scleroza laterala amiotrofica.

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