Index A Acetazolamide, hypokpp, 190 Acid maltase deficiency, ACTA1 (alpha-actin gene), 141, 142 ADOA. See Autosomal dominant optic atrophy (AD

Transcription

1 A Acetazolamide, hypokpp, 190 Acid maltase deficiency, ACTA1 (alpha-actin gene), 141, 142 ADOA. See Autosomal dominant optic atrophy (ADOA) Adynamia episodica hereditaria, 185 Alpha-actinin. See ACTA1 (alpha-actin gene) Alpha-sarcoglycan complex and loss of, 57 genetic data, 57, 58 protein, 57, 58 ALS. See Amyotrophic lateral sclerosis (ALS) Amyotrophic lateral sclerosis (ALS) frontotemporal dementia, 372 genetic data, 371 noninvasive ventilation, 372 SOD1 gene mutation, 372 TDP-43, 371 type 1 (ALS1) genetic data, 367 genetic heterogeneity, 368, 369 motor neuron disease, 368 progressive muscle paralysis, 367 SOD1 gene mutation, 368 spasticity, 367 Androgen receptor, 307 Arachnodactyly, 35, 36 AT. See Ataxia-telangiectasia (AT) Ataxia, 244, 245, 247, 255, 260, 289, 290. See also Ataxia-telangiectasia (AT); Friedreich ataxia (FA) Ataxia-telangiectasia (AT) alpha-fetoprotein, 352 choreoathetosis, 351 genetic data, 351 ocular telangiectasia, 352 Ataxic gait, 240, 241 ATGL protein, 273 ATP2A1 gene, 199, 201 Autosomal dominant optic atrophy (ADOA), 363, 364 Axonal Charcot-Marie-Tooth Disease (CMT), 320 B Babinski sign, 347, 348, 356 BAG3 gene mutations, 153, 154 Barth syndrome or tafazzin deficiency, 147 Becker disease, 181, 182 Becker muscular dystrophy (BMD) central rod domain, 15 cramps and myalgia, 15 dystrophin immunoblot, 16 genetic data, 13, 14 heart involvement, 16 hyperckemia, 13 late-onset myopathy, 15 muscle weakness, 15 myoglobinuria, 15 Beta-sarcoglycanopathy, Bethlem myopathy early childhood, 101, 103 Emery-Dreifuss muscular dystrophy, 101 finger contractures, genetic data and heterogeneity, 101, 102 LGMDs, 103 mildforms of muscular dystrophy, 101 muscle biopsy, 102 mutations, 101, 102 BMD. See Becker muscular dystrophy (BMD) Bone marrow examination, 290 Brachial plexopathy, 339 C. Angelini, Genetic Neuromuscular Disorders: A Case-Based Approach, DOI / , Springer International Publishing Switzerland

2 374 Brody disease ATP2A1 gene, 199, 201 genetic heterogeneity, 199, 200 muscle biopsy, muscle relaxation, 199, 200 pseudo-myotonia or silent myotonia, 199 sarcoplasmic reticulum (SR), SERCA1, symptoms, 199 C CACNA1S. See Calcium channel gene mutations (CACNA1S) Calcium ATPase, 202 Calcium channel gene mutations (CACNA1S), 189, 190 Calpain-3 (CAPN3), 20, 24, 39, 41, 43, 44 Calpainopathy, Cardiac rhythm abnormalities, 19, 23, 227 Cardiac transplantation, 222 Cardiomyopathy atrioventricular block, 28 cardiac transplantation, 221 congenital fiber-type disproportion, 145, 147 Danon disease, 221 echocardiogram, 154 LGMD2E, LGMD2F, 67, 68 LGMD2I, 71, 73 myofibrillar myopathies, 150 myosin light chain, 147 respiratory failure, 3 respiratory insufficiency, 40 Carnitine deficiency. See Systemic primary carnitine deficiency (SCD) Carnitine palmitoyl transferase II (CPT-II) deficiency clinical phenotypes, 285 CPT2 gene mutation, 285, 286 fever (morbillus), 286, 287 life-threatening events, 285 muscle biopsy, myalgia, 286 myoglobinuria, 287 rhabdomyolytic episodes, 285 Carpal tunnel syndrome, 340 Caveolin-3 immunolabeling, 32, 33 Caveolinopathy, CCD. See Central core disease (CCD) Central core disease (CCD) CCD, genetic data, 121, 122 hypotonia and delayed motor development, 121, malignant hyperthermia, 123 malignant hyperthermia syndrome, muscle biopsy, 122 Centronuclear myopathy type 1 DNM2 gene, 125, 126 genetic data, 125, 126 muscle biopsy, 126 ptosis and ophthalmoplegia, 125 CFTD. See Congenital fiber-type disproportion (CFTD) CGI-58 gene mutation, Chanarin-Dorfman syndrome. See NLSD-I Charcot-Marie-Tooth (CMT) disease neuronal type (CMT2B1), neuropathy (CMT4A), type 1A (CMT1A), type 4A (CMT4A), type 1B (CMT1B), type X1 (CMTX1), Charlevoix-Saguenay type. See Spastic ataxia, Charlevoix-Saguenay type Chloride channel gene mutation (CLCN1), 181, 182 Chronic myopathy, 37, 73, 186 Chronic progressive external ophthalmoplegia bilateral ptosis, genetic heterogeneity, 229, 230 lactic acidosis, 230 mtdna deletion, 229 ophthalmoplegia, 231 CLCN1. See Chloride channel gene mutation (CLCN1) Club foot, 63, 85, 173, 311 CMAPs. See Compound muscle action potentials (cmaps) CMS. See Congenital myasthenic syndrome (CMS) CMT. See Charcot-Marie-Tooth (CMT) disease CMT1A genetic data, 311, 312 genetic heterogeneity, 311, 313 peroneal nerve biopsy, 312 PMP22, 311 polyneuropathy, 311 progressive muscular atrophy, 312, 314 CMT4A distal hypotrophy, 328 distal leg muscles, 324, 325 distal muscle atrophy and pes cavus, 328, 329

3 375 fibers isolation, 329 GDAP1 gene, 324 genetic data, 323, 324, 327 HSP, 327 NCV, 323 paraparesis, 329 peroneal nerve biopsy, 329 restless legs syndrome, 328 spastic paraparesis, 329 vocal cord paralysis, 323 CMT1B Dejerine-Sottas syndrome, 316 MPZ gene, 316 myelin protein zero, 315, 316 NCV, 315 polyneuropathy, 316 progressive muscular atrophy, 317 CMT2B1 axonal peripheral sensorimotor polyneuropathy, 319 buffalo hump, 320 cmap, 319 lamin A/C, 319, 320 laminopathy, 322 SAPs, 320 sural nerve biopsy, 320, 321 CMTX1 connexin-32, 331 gait disturbances, 333 genetic data, 331 GJB1 gene, 331 sural nerve biopsy, 333 X-linked dominant form, 332 Coenzyme Q10 deficiency muscle biopsy, 248 nephrotic syndrome, 248 optic atrophy, 248 oxidative stress, 247 phenotypes, 247 radioisotope assays, 249 respiratory chain enzyme activity (complex II-III), 249 Compound muscle action potentials (cmaps), 319, 320 Congenital fiber-type disproportion (CFTD) genetic heterogeneity, 145, 146 muscle biopsy, MYL2 gene mutations, 145, 146 type 1 (CFTD1) ACTA1, 141, 142 diagnosis and management, 142 genetic heterogeneity, 141, 142 hypotonia and muscle weakness, 141 joint contractures, 141 muscle biopsy, 141, 142 Congenital muscular dystrophy (CMD) integrin-alpha-7 deficiency, rigid spine, type1a (MCD1A), type1c (MDC1C), Ullrich disease, Congenital myasthenic syndrome (CMS) diagnostic strategy, 195 DOK7 gene mutation, 195, 196 muscle biopsy, 196 symptoms, 195 Connexin-32, 331, 332 Cori-Forbes disease AGL gene encoding, 213, 215 biopsy, 215 characteristics, 213 childhood, 213 high-protein diet, 215 hypotonia and fasting hypoglycemia, polysaccharide deposition, 213 splenectomy, 214 symptoms, 213 treatment, 213 Corticosteroids, 4 6 COX deficiency Leigh syndrome, 239 mitochondrial encephalomyopathy, 243 CPT2 gene mutation, 285, 286 CPT-II. See Carnitine palmitoyltransferase II (CPT-II) deficiency Cramps calf muscles, 54 denervation, 308 dorsal and pectoral, 200 lower limbs, 178 myalgia, 14, 15 myoglobinuric episodes, 15 nocturnal muscle, 312 paresthesias, 252 rippling muscle disease, 31 CTG triplet expansion, 167 D Danon disease dystrophin, 221 genetic heterogeneity, 221, 222 LAMP-2 protein analysis, 221 muscle biopsies, 221, 222, 224 WPW syndrome, 222 X-linked dominant inheritance pattern, 223

4 376 Dejerine-Sottas syndrome, 316 Delta-sarcoglycanopathy, 67, 68 Desmin arrhythmogenic right ventricular dysplasia, 149 cardioskeletal myopathy, 149 gene mutations, 149, 150 Diabetes bipolar syndrome, 178 endocrine disturbances, 232 MELAS syndrome, 237 NLSD-M, Diffuse hypotonia, Dilated cardiomyopathy cardiac anomalies, 19 cardiac transplantation, 15 childhood-onset muscular dystrophy, 68 DMD carriers, 9 mitral regurgitation, 63 muscular dystrophy, 61 primary systemic carnitine deficiency, 261 restrictive respiratory insufficiency, 71 Distal atrophy, 168, 222, 333, 340 Distal myopathy, 31, 32, 49, 161, 192, 213 Distal spinal muscular atrophy axonal neuronopathy manifests, 336 BSCL2-related neurological disorders, 336 characteristic features, 335 distal hereditary motor neuropathy type V, 335 genetic data, 335 heterozygous mutation, 336 slow shuffling gait, 336 DM. See Myotonic dystrophy (DM) DM1 distal muscular atrophy, 169 DMPK gene (DM-protein kinase), 137, 168 genetic heterogeneity, 167, 168 heart block, 168 management, peculiar facies, masseter atrophy, 169, 170 shuffling gait, 169, 170 DM2 bipolar syndrome, 178 genetic heterogeneity, 177, 178 management and follow-up, 179 mild myopathy, 178 muscle biopsy, myotonia and diabetes, 178 PROMM and DM1, 179, 180 proximal myopathy, quadruplet CCTG repeat, 177 symptoms, 177 ZNF9 gene, 177, 178 DMD. See Duchenne muscular dystrophy (DMD) DMPK gene analysis, 137, 168, DOK7 gene mutation, 195, 196 Dominant limb-girdle muscular dystrophy (LGMD), 28, 37, 103 Duchenne muscular dystrophy (DMD) corticosteroids, 4, 5 6 dystrophin gene, 4 dystrophin immunofluorescence analysis, 4, 11 electrocardiography and echocardiography, 10 genetic data, 3, 4, 9, 10 orthotopic heart transplantation, 10 skeletal and cardiac muscles, 3, 9 upper and lower girdle muscles, 10 waddling gait, 4 Dynamin-2 (DNM2) gene, 125, 126 Dysferlin, Dysmetria, 235 Dysphonia, 195, 307, 309, 324 Dystroglycanopathy LGMD2K, LGMD2N, Dystrophin antibody, 4 DMD, 3 Duchenne dystrophy, 4 immunoblot, 16 immunofluorescence, 11 muscle biopsy, 9 protein expression, 20 X-chromosome inactivation pattern, 12 E EDMD. See Emery-Dreifuss muscular dystrophy (EDMD) EDMD1 clinical triad, 19 emerin, 20, 21 genetic data, 19, 20 heterogeneity, 19, 20 immunohistochemical studies, 20 muscular dystrophy, 19 EDMD2 Achilles tendon, 23, 25 LMNA gene, 23, 24 muscle biopsy, 24 spine syndrome, tachyarrhythmias and atrioventricular block, 24 Emerin deficiency (EMD), Emery-Dreifuss muscular dystrophy (EDMD)

5 377 type I (EDMD1), type 2 (EDMD2), Encephalopathy, 233 Enzyme replacement therapy (ERT), 205 Epilepsy, , Epileptic West syndrome, 257 Episodic muscle weakness, 157 Epsilon and alpha subunits of acetylcholine receptor, 194 Erb muscular dystrophy, 39, 44 ERT. See Enzyme replacement therapy (ERT) Eye controversion, 352 F FA. See Friedreich ataxia (FA) Facioscapulohumeral muscular dystrophy (FSHD) calpainopathy, 44 dominant inherited disorder, 111 muscle weakness, 111 myopathy, 105 type 1A (FSHD1A), type 2 (FSHD2), Fiber-type disproportion. See Congenital fiber-type disproportion (CFTD) Finger contractures, 36, , 103 Floppy infants baby position, 296, 297 cardiomyopathy, 145, 147 Foamy cells, 290 Friedreich ataxia (FA) coenzyme Q, 343 dorsal root ganglia damage, 343 dysarthria, 344, 345 GAA triplet expansion, 344 genetic data, 343 mitral prolapse, 344 muscle fibers and secondary mitochondrial change, 344 neurodegenerative disorder, 343 Frontotemporal dementia, 372 FSHD. See Facioscapulohumeral muscular dystrophy (FSHD) FSHD1A EMG and muscle biopsy, 106, 108 facial weakness, 109 genetic data, 105, 106 hyperlorosis and thin muscles, pectus excavatus, 106, 108 impacts, genetic counselling, 109 intrafamilial clinical variability, 108 molecular diagnosis, 105 muscle weakness, 105 orbicularis oculi and ori, 106, 107 palpebral fissures, 106, 107 prevalence, 105 scapulae winging, 106, 107 scapular fixator, 106, 107 FSHD2 abnormality, movement of limbs, 111, 113 biopsy, 112 cervical dystonia, 112 characteristics, 111 genetic heterogeneity, 111, 112 genotype-phenotype correlations, 112 patter, muscle weakness, 111 SMCHD1gene mutations, 111 symptoms, 111 Fukutin-related protein (FKRP) gene mutation, G Glutaric acidemia. See Multiple acyl-coa dehydrogenase deficiency (MADD) Glutaric aciduria type II. See Multiple acyl-coa dehydrogenase deficiency (MADD) Glycogenosis type 2 (see Pompe disease) type 3 (see Cori-Forbes disease) type 5 (see McArdle disease) Glycogen storage disease (GSD) type II (GSDII), type III (GSDIII) ( see Cori-Forbes disease) Glycogen storage disease type 5 (GSDV). See McArdle disease GNE inclusions, 161 GNEopathies, 162 Gynecomastia, 307 Gypsy mutation, 53, 54 H Hearing loss, 234, 244, 247, 253, 255, 259, 260, 273, 274, 315, 363 Heart block, 80, 168 Hereditary motor neuropathy type V (HMN5A). See Distal spinal muscular atrophy Hereditary neuropathy with pressure palsies (HNPP) brachial plexopathy, 339 Carpal tunnel syndrome, 340 genetic data, 339, 340 peripheral mononeuropathy, 339 PMP22 gene, 340 tomaculous peripheral neuropathy, 340 Hereditary spastic paraplegia (HSP), 327

6 378 Hip luxation, 117 HNPP. See Hereditary neuropathy with pressure palsies (HNPP) HSP. See Hereditary spastic paraplegia (HSP) Hyaline body myopathy autosomal dominant scapuloperoneal myopathy, hyaline bodies, 129, 131 muscle biopsies, 131 muscle weakness, 131 MYH7 gene, slow heavy chain myosin (MyHC 1), 129 HyperCKemia, 13, 14, 31 33, 209 Hyperkalemic periodic paralysis (HyperPP) episodic attacks of muscle weakness or paralysis, 185 genetic heterogeneity, 185, 186 management, 186 muscle biopsy, 186 SCN4A gene, 185, 186 sodium channel gene mutation, 185, 186 Hypertrophic muscles, 181 Hypertrophic proximal myopathy, 71, 72 Hypogonadism, 307 Hypokalemic periodic paralysis (hypokpp) type 1 acetazolamide treatment, 190 CACNA1S gene, 189, 190 genetic heterogeneity, 189, 190 hypokpp probands, muscle weakness, 189 Hypomethylation, 112 Hypopallesthesia, 348 Hypotonia, 121, 141, 299 I Ichthyosis, Inclusion body myopathy type 2 (IBM2) genetic heterogeneity, 161, 162 GNE gene mutations, 161, 162 muscle biopsy, 161, 162 Infantile fiber-type disproportion, 145 Infantile hypotonia, 121 Inflammatorymyopathy, 48, 49 Integrin-alpha-7 deficiency characteristics, 95 dystrophic changes, 95 gene encoding, 96 mental retardation, 95 miscarriage, 96 muscle biopsy, 95 mutations, ITGA7 gene, 95 white matter signal abnormalities and cortical atrophy, 96 Intermittent muscle weakness, 189 J Joint contractures Bethlem myopathy, 103 EDMD, 19 hypotonia, 84 limb-girdle muscular dystrophy type 1B, 27 neonatal form, 296 Jordan s phenomenon, 267, 270, 273, 276 K Kearns-Sayre Syndrome (KSS) genetic heterogeneity, 225 mtdna deletions, 225 muscle biopsy, 227 ptosis and ophthalmoplegia, 226 ragged-red fibers, 226 Kennedy disease. See Spinal bulbar muscular atrophy (SBMA) Kugelberg-Welander disease. See SMA3 L Lactic acidosis, 230, 233 Lamin A/C, 19, 23, 27, 319, 320 Laminopathy, 27, 29, 322 LAMP-2 protein analysis, 221, 224 Leiden-Möbius phenotype, 39 Leigh syndrome COX deficiency, 239 diffuse asthenia, 240 SURF1 gene mutations, 239, 241 LGMD1B genetic data and heterogeneity, 27, 28 lamins, 27 LMNA mutation carriers, 28 mild calves hypertrophy and quadriceps wasting, 28, 29 muscle biopsy, 28 LGMD1C caveolin-3 immunolabeling, 32, 33 caveolinopathy, 31, 32 distal myopathy, 32 fatigability and hyperckemia, 32 genetic data, 31, 32

7 379 muscle weakness and exercise-induced cramps, 33 rippling muscle disease, 31 LGMD1F chronic myopathic changes, 37 genetic data, 35, 36 mild proximal weakness, 37 pelvic girdle muscle, 35 proximal lower limb muscles, 35, 36 LGMD2A calpain-3 immunoblot analysis, 41 calpainopathy, 41, fatigability, 41 FSHD, 44 genetic data and heterogeneity, 39, 40 muscle biopsy, muscle involvement, 39 tiptoes and mild calf hypertrophy, 41 LGMD2B atrophy of calves, 49, 50 clinical features, 47 distalmyopathy, 49 dysferlin, 47 genetic data, 48 inflammatory reaction, 47, 49 and MM, 47 myalgias and high CK, 48 proximal, waddling gait, 47, 48 treatment, 49 upper girdle muscle, 49, 51 LGMD2C CK values, 53, 55 consanguineous Gypsy, gamma-sarcoglycan, muscle biopsy, 54 psychomotor development, LGMD2D alpha-sarcoglycan, biopsy, 58 child and adolescence, 58, 59 CK levels, 57 CT scan, 58 loss of ambulation, 58, 59 MRC index, 58 pathology, 59 thoracic scoliosis, 57 LGMD2E beta-sarcoglycanopathy, biopsy, cardiomyopathy, genetic data, 61, 62 high CPK values, 61 homozygous mutation, 65 psychomotor development, 63 scapular winging and Gowers sign, 61, 63 severe, 61 smooth muscle and coronary vessels, 61 LGMD2F biopsy, 68 characteristics, 67 Duchenne-like phenotype, dystrophin, 68 encoding, delta-sarcoglycan protein, 67, 68 identification, mutations, 68 LGMD2I alpha-dystroglycan glycosylation, 71 biopsy, 73 cardiomyopathy, 71, 73 congenital, 71 disease progression, Duchenne, FKRP mutations, 71 genetic data, 72 hypertrophic proximal myopathy, 73 mild dystrophinopathy, 72 weakness, limbs, 71 LGMD2K congenital, 76 diffuse LV wall hypokinesia, dystroglycanopathy, 75 mild myopathic alterations and perimysial fibrosis, 76 O-mannosyl-transferase-1 protein, 75 psychomotor development, 75 WWS/MEB, 75 LGMD2N calf hypertrophy, mild mental retardation, 80 muscle biopsy, 80 mutation, POMT2 gene, 79, 80 physical examination, 79, 80 Limb-girdle muscular dystrophy (LGMD) type 1B (LGMD1B), type 1C (LGMD1C), type 1F (LGMD1F), type 2A (LGMD2A), type 2B (LGMD2B), type 2C (LGMD2C), type 2D (LGMD2D), type 2E (LGMD2E), type 2F (LGMD2F), type 2I (LGMD2I), type 2K (LGMD2K), type 2N (LGMD2N), 79 80

8 380 Limb-girdle myasthenia, 196 Lipid storage myopathy, 263, 269, 270, 275, Lipoma, Louis-Bar syndrome. See Ataxia-telangiectasia (AT) M MADD. See Multiple acyl-coa dehydrogenase deficiency (MADD) Madelung s collar, 251 Malignant hyperthermia. See Central core disease (CCD) Malignant hyperthermia susceptibility (MHS), McArdle disease atrophy and muscle weakness, 218 genetic heterogeneity, 217 muscle biopsy, 219 PYGM gene, 217 MCD1A birth/infancy, 83 diagnosis, 83 distal compartment, 84 epileptic attacks, 83 genetic data and heterogeneity, 83, 84 LAMA2 gene coding, 83 laminin-alpha-2-deficient, 84, 85 low birth weight, 84 merosin deficiency, 83 muscle biopsy, 85 prognosis, 86 respiratory and feeding disorders, 83 severe hypotonia and joint contractures, MDC1C characteristics, 89 dystocic delivery with fetal distress, dystroglycanopathies, 89 FKRP-related muscular dystrophy, 89, 90 genetic data, 89, 90 laminin-alpha-2chain (LAMA2), 89 mental retardation, 89 muscle biopsies, 89, 90 WWS, 90 MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like Episodes) biochemical abnormalities, genetic heterogeneity, heteroplasmy, lactic acidosis, 233 mitochondrial DNA (mtdna) mutations, muscle biopsy, 233, 236 stroke-like episodes, 233 symptoms, 233 Mental retardation, 173, 223 Merosin deficiency, 83 MFM1 desmin-related myopathy, 149, 150 muscle biopsy, 150 pathologic finding, 149 restrictive cardiomyopathy, 149, 150 MFM6 BAG3, 153 genetic heterogeneity, 153, 154 respiratory insufficiency, skeletal muscle biopsy, 154 Z disc and myofibrils, 153 MHS. See Malignant hyperthermia susceptibility (MHS) Miglustat, Mild proximal weakness, 28, 37, 112 Minicore. See Multiminicore disease (MmD) Mini-polymyoclonus, 304 Mitochondrial encephalomyopathy with COX deficiency, 243 genetic heterogeneity, mitochondrial complex IV deficiency, myoclonic epilepsy and ataxia, 244, 245 Motor neuron disease, 213, 307, 368, 372 MRI changes, 248 MtDNA deletion, 229 MTM1 gene (myotubularin protein), 133, 134 MTMX. See X-linked myopathy Multiminicore disease (MmD) central core disease, 117 genetic heterogeneity, 117 hip luxation, 117 muscle biopsy, RYR1 gene, 117, 119 SEPN1 mutations, 117, 119 skeletal deformities, Multiple acyl-coa dehydrogenase deficiency (MADD) carnitine deficiency, ETFDH gene mutation, 279, 280 genetic heterogeneity, 279, 280 lipid storage myopathy, mitochondrial secondary complex II III, 283 muscle atrophy, 283 polymyositis, symptoms and age at onset, 279

9 381 Multiple symmetric lipomatosis (MSL) deletions in mtdna, 251, 252 genetic heterogeneity, 251, 252 lipomatosis, muscle biopsy, 253 Muscle relaxation, 199, 200 Muscle rigidity, 199 Myalgia Brody disease, 199 congenital myopathy, 157 cramps, 14, 15 denervation, 308 febrile illness, 286 inflammatory myopathy, 49 myotonic dystrophy type 2, 177 tubular aggregation, 159 MYH7 gene mutations, MYL2 gene, 145, 146 Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome, 251, 253 Myoclonus, 244, 245 Myofibrillar myopathies (MFM) type 1 (MFM1), type 6 (MFM6), Myogenic hyperuricemia, 218 Myoglobinuria, 287 Becker dystrophy, 15 cerebellar ataxia, 247 coronary heart disease, 218 febrile illness, 286 metabolic disorders, 287 rhabdomyolysis, 217 X-linked-positive family history, 14, 15 Myosin heavy chain (MyHC 1), 129 Myotonia CLCN1 gene product, 181, 182 genetic heterogeneity, 181, 182 hypertrophic muscles, 181 muscle biopsy, 182 muscle bulk, 182, 183 myotonia, 181, 182 treatment, 182 Myotonic dystrophy (DM) central nervous system involvement, 167, 173 DMPK gene analysis, genetic heterogeneity, 173, 174 large CTG triplet expansion, 173 marked hypotonia, 173 mental retardation, 173 muscle biopsy, 175 type 1 (DM1), type 2 (DM2), Myotubular myopathy diffuse hypotonia, , 135 genetic data, 133, 134 MTM1 gene mutations, 133 MTMX, 133 myotubes, 133 respiratory insufficiency, 134 N NAIP gene, deletions, 299 NARP (Neuropathy, Ataxia, Retinitis Pigmentosa) syndrome ataxia, 255 genetic heterogeneity, muscle biopsy, 256 peripheral neuropathy, 255 NCV. See Nerve conduction velocity (NCV) Nebulin (NEB gene), 137, 138 Nemaline bodies, 137 Nemaline myopathy type 2 genetic data and heterogeneity, 137, 138 muscle biopsy, 140 NEB gene, 137 nemaline bodies, 137 rods, 137 Neonatal hypotonia, 133 Nephrotic syndrome, 248 Nerve conduction velocity (NCV) electrophysiological studies, 331 hypertrophic demyelinating form, 312 polyneuropathy, 316 papillary abnormalities, 315 ulnar nerve, 332 Neurogenic atrophy, 215, 329 Neurogenic EMG, 215, 244, 274, 308, 329, 368 Neuropathy axonal, 29 Carpal tunnel syndrome, 340 cerebellar dysfunction, 293 hereditary motor sensory, 317 peripheral, 194 progressive disorder, 335 Neutral lipid storage disease (NLSD) with ichthyosis (NLSD-I), with myopathy (NLSD-M), Niemann-Pick disease type C1 (NPC1) ataxia, 289, 290 deficiency of sphingomyelinase, 289 genetic heterogeneity, 289, 290 Miglustat, NPC1 gene (type C1) mutation, 289, 290 symptoms, 289

10 382 NLSD. See Neutral lipid storage disease (NLSD) NLSD-I CGI-58 gene mutation, genetic heterogeneity, ichthyosis, Jordan s anomaly, 267, 270 myopathy, NLSD-M ATGL protein, 273 clinical features, 273 Jordan s anomaly, 273, 276 PNPLA2 gene mutation, 273, 274, 276 Nonaka distal myopathy. See Inclusion body myopathy type 2 (IBM2) Noninvasive ventilation, 300, 368, 372 NPC1 gene (type C1) mutation, 289, 290 Nystagmus, 243, 248, 267, 289, 344, 349 O Ocular telangiectasia, 352 Ophthalmoparesis, 126 Ophthalmoplegia Kearns-Sayre syndrome, 225 myopathic face, 83 neonatal hypotonia, 133 OPA1, 364 RYR1, 117 strabismus, 236 Optic atrophy plus syndrome ADOA, 363 genetic data, 363 muscle electron microscopy, 364 neuromuscular involvement, 365 OPA1 gene, 364 PEO, 363 PNPLA2 gene mutation, 273, 274, 276 POLG1 gene, 259, 260 Polyneuropathy, 311, 315, 316, 319, 323, 339, 340 Pompe disease adult, 205 biopsy, characteristics, 205 climbing rope, climbing stairs and walking, 206, 208 ERT, 205, 210 GAA gene encoding, 205, 206 guidelines, hypercapnia, 207, 209 hyperckemia, 209 juvenile-onset, 206, 207, 210 late-onset, 206, 208 limb-girdle dystrophy/polymyositis, 205 monoclonal M paraproteinemia, 206 muscle weakness, 205 neurological examination, 209 respiratory failure, 210 upper extremities, 206 Progressive external ophthalmoplegia (PEO), 229, 260, 363 Progressive muscular atrophy, 53, 55, 101, 312, 314, 317, 324 Proximal lower limb muscles, 35, 36 Proximal myopathy, 79, 80, Proximal myotonic myopathy (PROMM). See DM2 Proximal weakness, 304, 305 Psychomotor regression, 256 Ptosis, 135, 229 PYGM gene mutation, 217, 218 Pyramidal syndrome, 347 P Paraparesis, 327, 329, 331 Paraplegin, 359 Pelvic girdle muscle, 35, 90, 316 PEO. See Progressive external ophthalmoplegia (PEO) Peripheral myelin protein 22 (PMP22), , 339, 340 Peroneal muscular atrophy. See Charcot-Marie-Tooth (CMT) disease Peroneal nerve biopsy, 312, 329 Pes cavus, 312, 328, 329, 335 PMP22. See Peripheral myelin protein 22 (PMP22) Q Quadriceps-sparing inclusion body myopathy type 2. See Inclusion body myopathy type 2 (IBM2) Quadruplet expansion mutation, 177 R Ragged-red fibers, 226 Respiratory insufficiency myofibrillar myopathies, 153 myotubular myopathy, Restless legs syndrome, 328 Reye s syndrome, 261 Rhinolalia, 308

11 383 Riboflavin-responsive MADD (RR-MADD) patients, 283 Rigid spine syndrome characteristics, 93 genetic data, 93, 94 lower girdle muscle weakness, 93, 94 Mallory body myopathy, 93 muscle biopsy, 93, 94 muscular dystrophy, 93 mutations, SEPN1gene, 93, 94 waddling gait with hyperlordosis, 93 Rimmed vacuoles, 161 Rippling muscle disease, 31, 33 Rods, 137, 140 Ryanodine receptor (RYR1) gene mutations, 121, 122 related MmD, 117, 119 RYR1. See Ryanodine receptor (RYR1) gene S SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis) genetic heterogeneity, 259, 260 mtdna depletion, 259 POLG1 gene, 259, 260 symptoms, 259 SAPs. See Sensory nerve action potentials (SAPs) Sarcoplasmic reticulum (SR), SBMA. See Spinal bulbar muscular atrophy (SBMA) Scapuloperoneal dystrophin, 129, 130 SCARMD. See Severe childhood-onset autosomal recessive muscular dystrophy (SCARMD) SCD. See Systemic primary carnitine deficiency (SCD) SCN4A gene, 185, 186 Scoliosis cardiac abnormalities, 345 congenital muscular dystrophy, 95 corset/back brace, 300 distal muscle weakness, 35 joint contractures, 63 respiratory failure, 93 Second wind phenomenon, 217 Selenoprotein-1 (SEPN1) mutations, 93, 94 related MmD, 117, 119 Sensory nerve action potentials (SAPs), 319, 320 SERCA1 gene mutation, Severe childhood-onset autosomal recessive muscular dystrophy (SCARMD) CK values, 53, 55 consanguineous Gypsy, gamma-sarcoglycan, muscle biopsy, 54 psychomotor development, Sialic acid biosynthetic pathway, 161 Skeletal deformities, SLC22A5 gene mutations, 261, 264 Slow-channel congenital myasthenic syndrome CHRNE gene mutations, 191 distal myopathy, 192 fluoxetin, 193 genetic heterogeneity, 191, 192 partial ophthalmoparesis, postsynaptic congenital myasthenic syndrome, 191 ptosis and ophthalmoplegia, 192 SMA. See Spinal muscular atrophy (SMA) SMA1 floppy baby position, 296, 297 genetic heterogeneity, 295, 296 SMN1 gene mutation, 295, 296 symptoms, 295 SMA2 delayed motor milestones and muscle weakness, 299 deletions of NAIP gene, 299 hypotonia, 299 management, 300 SMN1 gene mutation, 299, 300 SMA3 deletions in SMN1 gene, 303, 304 genetic heterogeneity, 303, 304 proximal weakness, 304, 305 SMN1 gene mutation, 295, 296, 299, 300 SOD1 gene mutation, 367, 368, 371 Sodium channel gene mutation, 185, 186 Spastic ataxia, Charlevoix-Saguenay Type genetic heterogeneity, 347, 348 hyperreactive fibers, 349 hypotrophic fiber, 348 neurodegenerative disorders, 347 pes cavus, 348 pyramidal syndrome, 347 Spastic paraparesis (SPG) type 4 (SPG4), type 7 (SPG7), Spastin, 355 SPG. See Spastic paraparesis (SPG)

12 384 SPG4 autosomal dominant, 355, 356 heterogeneous disorders, 355 hypertonic and hypotrophic legs, 356 musclebiopsy, 356 sensory changes, 357 SPAST gene, 355 SPG7 clinical features, 359 dying back, 359 genetic heterogeneity, 359, 360 lower limbs, nystagmus and mental retardation, 360, 361 m-aaa protease, 360 muscle tightness, 361 Spinal bulbar muscular atrophy (SBMA) androgen receptor, 307, 308 calf hypertrophy, 308 genetic data, 307, 308 gynecomastia and hypogonadism, 307 limb-girdle symptoms, 309 muscle biopsy, 309 proximal and bulbar muscle weakness, 307 skeletal muscle strength, 309 Spinal muscular atrophy (SMA) type 1 (SMA1), type 2 (SMA2), type 3 (SMA3), Steinert disease. See DM1 Stepping gait, 169, 170 Steroid-resistant polymyositis, 49 STIM1 gene mutations, 157, 158 Stroke-like episodes, 233 Sural nerve biopsy, 320, 321, 333 Systemic primary carnitine deficiency (SCD) cardiomyopathy, 261 hepatomegaly and cardiomegaly, 262 muscle biopsy, 264 muscle hypotonia, 263 SLC22A5 gene mutations, 261, 264 T TAR DNA-binding protein 43 (TDP-43), 367, 371 TDP-43. See TAR DNA-binding protein 43 (TDP-43) Tegretol therapy, 263 Telangiectasia. See Ataxia-telangiectasia (AT) Thomsen disease (THD). See Myotonia Tomaculous neuropathy, 340 Tongue weakness and fasciculations, 304, 308, 372 Tremor, 112, 145, 235, 240, 248, 259, 283, 307, 309, 332, 344 Tubular aggregate myopathy (TAM) episodic muscle weakness, 157 genetic heterogeneity, 157, 158 STIM1 gene mutations, 157, 158 U Ubiquinone (CoQ), 247 Ullrich disease (UCMD) characteristics, 99 differential diagnoses, 100 genetic data and heterogeneity, 99, 100 muscle weakness and contractures, 99 scleroatonic muscular dystrophy, 99 spinal rigidity and scoliosis, 99 V Vocal cord paralysis, 323 W Walker-Warburg syndrome (WWS), 90 Werdnig-Hoffmann disease type 1 (see SMA1) type 2 (see SMA2) White matter brain abnormalities MCD1A, MDC1C, Wolff-Parkinson-White (WPW) syndrome, 221 X X-linked dominant inheritance pattern, 223 X-linked myopathy, Z Z-line, 153 ZNF9 gene mutation, 177, 178