Genetic Neuromuscular Disorders: A Case-Based Approach

Front Matter....Pages i-xxi
Front Matter....Pages 1-1
Duchenne Muscular Dystrophy....Pages 3-7
Duchenne Muscular Dystrophy Carrier....Pages 9-12
Becker Muscular Dystrophy....Pages 13-17
Emery-Dreifuss Muscular Dystrophy Type 1....Pages 19-21
Emery-Dreifuss Muscular Dystrophy Type 2....Pages 23-26
Limb-Girdle Muscular Dystrophy Type 1B....Pages 27-30
Limb-Girdle Muscular Dystrophy Type 1C....Pages 31-34
Limb-Girdle Muscular Dystrophy Type 1F....Pages 35-38
Limb-Girdle Muscular Dystrophy Type 2A....Pages 39-45
Limb-Girdle Muscular Dystrophy Type 2B....Pages 47-52
Limb-Girdle Muscular Dystrophy Type 2C....Pages 53-56
Limb-Girdle Muscular Dystrophy Type 2D....Pages 57-60
Limb-Girdle Muscular Dystrophy Type 2E....Pages 61-65
Limb-Girdle Muscular Dystrophy Type 2F....Pages 67-69
Limb-Girdle Muscular Dystrophy Type 2I....Pages 71-74
Limb-Girdle Muscular Dystrophy Type 2K....Pages 75-77
Limb-Girdle Muscular Dystrophy Type 2N....Pages 79-81
Congenital Muscular Dystrophy Type 1A....Pages 83-87
Congenital Muscular Dystrophy Type 1C....Pages 89-91
Congenital Muscular Dystrophy with Rigid Spine....Pages 93-94
Front Matter....Pages 1-1
Congenital Muscular Dystrophy with Integrin-Alpha-7 Deficiency....Pages 95-97
Congenital Muscular Dystrophy, Ullrich Disease....Pages 99-100
Bethlem Myopathy....Pages 101-104
Facioscapulohumeral Muscular Dystrophy Type 1A....Pages 105-109
Facioscapulohumeral Muscular Dystrophy Type 2....Pages 111-113
Front Matter....Pages 115-115
Congenital Multiminicore Myopathy....Pages 117-119
Congenital Central Core Myopathy with Malignant Hyperthermia....Pages 121-123
Congenital Centronuclear Myopathy Type 1....Pages 125-127
Congenital Hyaline Body Myopathy....Pages 129-132
Congenital Myotubular Myopathy....Pages 133-136
Congenital Nemaline Myopathy Type 2....Pages 137-140
Congenital Fiber-Type Disproportion Type 1....Pages 141-143
Congenital Fiber-Type Disproportion....Pages 145-147
Congenital Myofibrillar Myopathy Type 1....Pages 149-151
Congenital Myofibrillar Myopathy Type 6....Pages 153-155
Congenital Tubular Aggregate Myopathy....Pages 157-159
Hereditary Inclusion Body Myopathy Type 2....Pages 161-163
Front Matter....Pages 165-165
Myotonic Dystrophy Type 1, Steinert Disease....Pages 167-171
Congenital Myotonic Dystrophy....Pages 173-175
Myotonic Dystrophy Type 2, Proximal Myotonic Myopathy....Pages 177-180
Front Matter....Pages 165-165
Congenital Myotonia, Thomsen Disease....Pages 181-184
Hyperkalemic Periodic Paralysis....Pages 185-187
Hypokalemic Periodic Paralysis Type 1....Pages 189-190
Slow-Channel Congenital Myasthenic Syndrome....Pages 191-194
Congenital Myasthenic Syndrome....Pages 195-197
Brody Disease....Pages 199-202
Front Matter....Pages 203-203
Glycogenosis Type 2, Pompe Disease....Pages 205-211
Glycogenosis Type 3, Cori-Forbes Disease....Pages 213-215
Glycogenosis Type 5, McArdle Disease....Pages 217-219
Danon Disease....Pages 221-224
Kearns-Sayre Syndrome....Pages 225-228
Chronic Progressive External Ophthalmoplegia....Pages 229-232
MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like Episodes)....Pages 233-238
Leigh Syndrome due to COX Deficiency....Pages 239-241
Mitochondrial Encephalomyopathy with COX Deficiency....Pages 243-246
Coenzyme Q10 Deficiency....Pages 247-250
Multiple Symmetric Lipomatosis....Pages 251-254
NARP (Neuropathy, Ataxia, Retinitis Pigmentosa)....Pages 255-257
SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis)....Pages 259-260
Systemic Primary Carnitine Deficiency....Pages 261-265
Front Matter....Pages 203-203
Neutral Lipid Storage Disease with Ichthyosis, Chanarin-Dorfman Syndrome....Pages 267-271
Neutral Lipid Storage Disease with Myopathy....Pages 273-277
Multiple Acyl-CoA Dehydrogenase Deficiency....Pages 279-284
Carnitine Palmitoyltransferase II Deficiency....Pages 285-288
Niemann-Pick Disease Type C1....Pages 289-291
Front Matter....Pages 293-293
Spinal Muscular Atrophy Type 1, Werdnig-Hoffmann Disease....Pages 295-297
Spinal Muscular Atrophy Type 2, Werdnig-Hoffmann Disease....Pages 299-302
Spinal Muscular Atrophy Type 3, Kugelberg-Welander Disease....Pages 303-305
Spinal Bulbar Muscular Atrophy, Kennedy Disease....Pages 307-310
Charcot-Marie-Tooth Disease, Type 1A....Pages 311-314
Charcot-Marie-Tooth Disease, Type 1B....Pages 315-317
Charcot-Marie-Tooth Disease, Neuronal Type....Pages 319-322
Charcot-Marie-Tooth Disease, Type 4A....Pages 323-325
Charcot-Marie-Tooth Neuropathy with Pyramidal Features....Pages 327-330
Charcot-Marie-Tooth Disease, Type X1....Pages 331-333
Distal Spinal Muscular Atrophy....Pages 335-337
Hereditary Neuropathy with Pressure Palsies....Pages 339-341
Friedreich’s Ataxia....Pages 343-346
Spastic Ataxia, Charlevoix-Saguenay Type....Pages 347-349
Ataxia-Telangiectasia, Louis-Bar Syndrome....Pages 351-353
Front Matter....Pages 293-293
Spastic Paraparesis Type 4....Pages 355-357
Spastic Paraparesis Type 7....Pages 359-362
Optic Atrophy Plus Syndrome....Pages 363-365
Amyotrophic Lateral Sclerosis Type 1....Pages 367-369
Amyotrophic Lateral Sclerosis....Pages 371-372
Back Matter....Pages 373-384