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Note: Page number followed by f and t indicates figure and table respectively.
A
Abetalipoproteinemia, 307–308, 422
clinical features, 307
histopathology, 307
laboratory features, 307
molecular genetics and pathogenesis, 307–308
treatment, 308
Accutane. See Isotretinoin
Acetazolamide
in HYPOKPP1, 818–819
in potassium-sensitive periodic paralysis, 812
Acetazolamide-responsive myotonia, 814
clinical features, 814
histopathology, 814
laboratory features, 814
molecular genetics and pathogenesis, 814
treatment, 814
Acetylcholine receptors (AChR), 581, 622
deficiency, 632
Acetylcholinesterase (AChE), 629
Achilles’ tendon reflexes, 674
Acid maltase deficiency, 745
clinical features, 474, 877–878
Acrylamide, neuropathy by, 457
Acute brachial plexus neuritis, 16
Acute fatty liver of pregnancy (AFLP), 764
Acute flaccid paralysis (AFP) from polio virus, 224
clinical features, 224–225, 225f
diagnosis, 225–226
differential diagnosis, 225–226, 225t, 226t
histopathology, 22
laboratory features, 226–227
natural history, 225
pathogenesis, 227
treatment, 227
Acute inflammatory demyelinating polyradiculoneuropathy (AIDP), 320–327
autonomic testing, 324
childhood, 327
clinical features, 320–323, 321t
electrophysiologic criteria for demyelination, 322, 323t
epidemiology and antecedent illness, 320
laboratory features, 322f, 323, 323t
motor conduction studies, 323–324
needle electromyographic examination, 324
nerve fiber, 325f
sensory conduction studies, 324
Acute motor axonal neuropathy (AMAN), 328–330
clinical features, 329
epidemiology, 328–329
laboratory features, 329
pathogenesis, 330
treatment, 330
Acute motor–sensory axonal neuropathy (AMSAN), 327–328
clinical features, 327
histopathology, 328
laboratory features, 328
pathogenesis, 328
treatment, 328
Acute organophosphate and carbamate poisoning, 643–645
clinical features, 643–644
diagnosis and differential diagnosis, 644
histology, 644
laboratory features, 644
pathogenesis, 644
treatment, 644–645
Acute quadriplegic myopathy (AQM), 899–902
clinical features, 899–900
laboratory features, 900, 900f
pathogenesis, 901
treatment, 902
Acute treatment–induced painful neuropathy, 473
Acyl-CoA deficiency, 763
ADC. See Apparent diffusion coefficient (ADC)
Adenine nucleotide translocator (ANT), 786
Adipose triglyceride lipase (ATGL), 766
ADQ. See Abductor digiti quinti (ADQ)
Adrenal hypoplasia congenita (AHC), 667–668
Adrenal insufficiency, 877
Adrenoleukodystrophy (ALD), 203, 301–303
clinical features, 301–302
laboratory features, 302–303, 303f
molecular genetics and pathogenesis, 303
treatment, 303
Adrenomyeloneuropathy (AMN), 203, 301–303
clinical features, 301–302
histopathology, 303
laboratory features, 302–303
molecular genetics and pathogenesis, 303
treatment, 303
Adult polyglucosan body disease (APBD), 310–311
clinical features, 310
histopathology, 310–311, 312f, 313f
laboratory features, 310, 311f
molecular genetics and pathogenesis, 311
Aerobic and strengthening exercise, 145, 145t
definition and description of, 145–146
in McArdle disease, 147–148
studies on, 146
in ALS, 146
in Charcot-Marie-Tooth disease, 146
in dystrophinopathies, 146–147
in FSHD, 147
in inflammatory myopathies, 147
in mitochondrial myopathies, 147
in myotonic dystrophy, 147
Aerobic forearm exercise, in mitochondrial disorders, 779
AFLP. See Acute fatty liver of pregnancy (AFLP)
AFOs. See Ankle-foot-orthoses (AFOs)
AFP. See Acute flaccid paralysis
Agrin, 635
deficiency, 631
AHC. See Adrenal hypoplasia congenita (AHC)
Albuterol, 636
Alcoholic myopathy, 903–904
Alcoholic neuropathy, 423–424
clinical features, 423
histopathology, 423
pathogenesis, 423–424
treatment, 424
Alcohol-related peripheral neuropathy, 462
ALD. See Adrenoleukodystrophy (ALD)
Aldolase A deficiency. See Glycogenosis type XII
clinical features, 679
histopathology, 679
imparied glycoslylation of, 683
laboratory features, 679
molecular genetics and pathogenesis, 679
Alpha B-crystallin, 702
Alpha-interferon, 897
ALS. See Amyotrophic lateral sclerosis (ALS)
ALS functional rating scale (ALSFRS-R), revised, 191
American Academy of Neurology (AAN), 679
American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM), 679
American College of Sports Medicine (ACSM), on exercise, 145, 146
Aminopyridines, in LEMS treatment, 626
Amiodarone myopathy, 893
Amiodarone neuropathy, 452
AMN. See Adrenomyeloneuropathy (AMN)
Amyloid myopathy, 880–882
clinical features, 880–881
histopathology, 881–882
laboratory features, 881
pathogenesis, 882
treatment, 882
Amyloid polyneuropathy, 393–397, 393t, 394f
Amyotrophic lateral sclerosis (ALS), 15, 174–193
characteristics, 174
clinical features, 178–182
bulbar-onset disease, 180
fasciculations, 178–179
frontotemporal dysfunction and ALS, 181
LMN manifestations, 179
lower motor neuron dominant (LMN-D) ALS, 179, 180
UMN manifestations, 179
diagnosis and differential diagnosis, 182–185, 182t
El Escorial criteria (EEC), 174, 175t
epidemiology, 177–178
exercise studies in, 146
familial ALS (fALS), 175–177, 176t
SOD mutations in, 177t, 189–190
and frontotemporal lobar degeneration (FTLD), 174, 177
incidence, 177
international consensus conferences on, 174–175
laboratory features, 185–187, 186f, 187f
pathogenesis, 189–190
sporadic ALS (sALS), 174
Andersen disease, 748
Andersen–Tawil syndrome (ATS), 804, 819–820
clinical features, 819–820
histopathology, 820
laboratory features, 820
molecular genetics and pathogenesis, 820
treatment, 820
Anesthetica paresthetica, 420–421
Angiofollicular lymph node hyperplasi. See Castleman disease
Angiokeratoma corporis diffusum. See Fabry disease
Angiotrophic large-cell lymphoma, 431
Ankle-foot-orthoses (AFOs), 144, 151–152, 152f, 568
clinical features, 678
histopathology, 678
laboratory features, 678
molecular genetics and pathogenesis, 678
ANST. See Autonomic nervous system testing (ANST)
ANT. See Adenine nucleotide translocator (ANT)
Antabuse, 453–454
Anterior interosseous syndrome, 526, 526t
Anti-MDA-5 antibody, 835
Antimicrotubular myopathies, 893–894
vincristine, 893–894
Antineuronal nuclear antibodies, 486
Antineutrophil cytoplasmic antibodies (ANCAs), 371
Antinuclear antibodies (ANAs), 834
Antisaccade testing, 182
Antivenin, 646
APBD. See Adult polyglucosan body disease (APBD)
Apolipoprotein A1-related amyloidosis, 397
Apparent diffusion coefficient (ADC), 784
AQM. See Acute quadriplegic myopathy (AQM)
Arachnoiditis, 561
Arsenic toxicity, 461
Arthrogryposis, 728
Arthropods, 646–647
venom and effects, 646–647
Ashkenazi population, 748
Ashworth spasticity scale, 146
Ataluren, in dystrophinopathies treatment, 667
Ataxia-telangiectasia, 308
clinical features, 308
histopathology, 308
laboratory features, 308
molecular genetics and pathogenesis, 308
Ataxia with oculomotor apraxia
type 1 (AOA1), 308
type 2 (AOA2), 308–309
ATGL. See Adipose triglyceride lipase (ATGL)
ATPase stain, 96
Atropine, 644
ATS. See Andersen–Tawil syndrome (ATS)
Augmentative and alternative communication (AAC) technology, 142
Autoimmune autonomic neuropathy, 333–334
clinical features, 333
histopathology, 333
laboratory features, 333
pathogenesis, 333–334
treatment, 334
Autoimmune myasthenia gravis (MG). See Myasthenia gravis (MG)
Autoimmunity, 114
Autonomic nervous system testing (ANST), 57–61
Autonomic neuropathy
diabetic, 468–470
HIV-related, 413
paraneoplastic, 430
Autosomal recessive cardiomyopathy and ophthalmoplegia (ARCO), 786
clinical features, 786
histopathology, 786
laboratory features, 786
molecular genetics, 786
treatment, 786
Axial weakness, rehabilitation approach for, 160
Axilla roll slings, 150
Axillary neuropathies, 522–523, 522t
Axonotmesis, 504
Azathioprine, 115t, 117t, 121–122
for inflammatory myopathies, 861–862
Azidothymidine (AZT) myopathy, 894–895, 895f
B
Backpack/rucksack palsy, 516, 519
Back pain, 539–540
Baclofen, in hereditary spastic paraparesis, 204, 205t
Bacterial infections, myositis with, 856
BAD. See Bibrachial amyotrophic diplegia (BAD)
Balanced forearm orthosis, 150
Baseball-cap orthosis, 150
Bassen–Kornzweig disease. See Abetalipoproteinemia
Bathing and toileting, adaptive equipment for, 157–158, 158f
BCL2-associated athanogene 3 (BAG3), 702
Becker muscular dystrophy (BMD), 656, 664–665
clinical features, 664
laboratory features, 664, 664f
Bed mobility, 158–159
Beevor sign, 688
Behçet syndrome, 376. See also Vasculitic meuropathies
Bell palsy, 642
Benign focal amyotrophies (BFAs), 216–218. See also Hirayama disease
B-enolase deficiency. See Glycogenosis type XIII
Bent spine, 695–696
clinical features, 695
laboratory features, 695
pathogenesis, 695
treatment, 695–696
Benzodiazepines, in hereditary spastic paraparesis, 204, 205t
Bergmann glia, 624
Beriberi. See Thiamine deficiency
Bethlem myopathy, 682, 694–695
clinical features, 694
histopathology, 694
laboratory features, 694, 694f
molecular genetics and pathogenesis, 694–695
treatment, 695
BFAs. See Benign focal amyotrophies (BFAs)
Bibrachial amyotrophic diplegia (BAD), 180
Biceps tendinopathy, 912–914
symptoms, 913
Bicycle ergometry test, in mitochondrial disorders, 779
BIG. See Botulism immune globulin (BIG)
Biopsy. See also Muscle biopsies; Nerve biopsies; Skin biopsies
muscle, 86–100
nerve, 100–111
skin, 111–112
Blood testing, 61–62
for myopathy, 63
for peripheral neuropathy, 62–63
BMD. See Becker muscular dystrophy (BMD)
Bobath slings, 150
Bone marrow transplantation, peripheral neuropathy in, 438
Bortezomib, toxic neuropathy with, 442–443
clinical features, 442
histopathology, 443
laboratory features, 442
pathogenesis, 443
Botulinum toxin type A, in hereditary spastic paraparesis, 204, 205t
clinical features, 637–638
clinical presentation, 637
diagnosis and differential diagnosis, 638–639
foodborne, 637
hidden, 638
histopathology, 639–640
inadvertent, 638
infantile, 637
laboratory features, 639
pathogenesis, 640
treatment, 640–641
Botulism immune globulin (BIG), 640
Braces. See Orthoses
Brachial plexopathies, 431–433, 494f, 505t, 512, 642
backpack/rucksack palsy, 516, 519
burners/stingers, 519
hereditary neuralgic amyotrophy, 519
immune-mediated brachial plexus neuropathy, 514–515
lateral cord, 513
lower trunk, 513
medial cord, 513–514
middle trunk, 512–513
MRI of brachial plexus, 508f, 512
metastatic plexopathy of breast carcinoma, 516, 518f
primary tumors, 516
radiation-induced plexopathy, 516
secondary tumors, 516
neurogenic thoracic outlet syndrome, 515–516, 517f
obstetrically related plexopathies, 515
perioperative plexopathies, 519
posterior cord, 513
surgical treatment, 519
upper trunk, 512
Brachial plexus, 491–492, 494f, 495f, 496t
Brain–computer interfaces (BCIs), 168
Branching enzyme deficiency, 748–750
Brody disease, 239–240, 821–822
Brown–Vialetto–Van Laere (BVVLS) syndrome, 213
Bruns–Garland syndrome. See Diabetic amyotrophy
Bunina body, 189
Burners and stingers, 519
Bursitis
greater trochanteric, 918–919
pes anserine, 919–920
Butyrylcholinesterase, 644
BVVLS syndrome. See Brown-Vialetto-Van Laere (BVVLS) syndrome
C
Caenorhabditis elegans, 675
Calcium channel blockers, for cardioprotection, 645
Calcium channelopathies, 815–819
Calcium, disorders of, 880
Calf hypertrophy, 662, 664, 670, 671, 681. See also Becker muscular dystrophy (BMD)
and telethonin, 675
California Infant Botulism Treatment and Prevention Program, 640
causes, 673
histopathology, 672
laboratory features, 672, 673f
molecular genetics and pathogenesis, 673
Camptocormia, rehabilitation approach in, 160
Cancer, immunosuppressive therapy and, 120
CAP disease, 734
clinical features, 734
histopathology, 734
laboratory features, 734
molecular genetics and pathogenesis, 734
treatment, 734
Carbamate toxicity, 638
Carbohydrate metabolism, disorders of, 742–754, 743t
Carbon disulfide, neuropathy by, 457
Carbon fiber dorsiflexion assist orthosis, 151, 152f
Cardiomyopathy and dystrophinopathies, 675. See also Sarcoglycanopathies
Cardiorespiratory fitness training, 145
Carfilzomib, 443
Carnitine, in rhabdomyolysis attack prevention, 763
Carnitine palmitoyltransferase 1 (CPT1), 758
Carnitine transporter deficiency, 761–762
cause, 761
clinical features, 761
laboratory features, 761
molecular genetics and pathogenesis, 761–762
treatment, 762
Carpal spasm, 252
Carpal tunnel syndrome (CTS), 526–528, 526t, 527f
Carpometacarpal (CMC) joint osteoarthritis (OA), 916–917
symptoms, 916
treatment, 916–917
Castleman disease, 436
Caveolin-3, 670
causes, 670
clinical features, 670
histopathology, 670
laboratory features, 670
molecular genetics and pathogenesis, 670
CDK. See Cyclin-dependent kinases (CDK)
Celiac disease, 389
clinical features, 389
histopathology, 389
laboratory features, 389
pathogenesis, 389
treatment, 389
Cellcept. See Mycophenolate mofetil (MMF)
Central core myopathy, 719–722, 720t–721t, 724. See also Core-rod myopathy
clinical features, 719
histopathology, 719, 721–722, 722f
laboratory features, 719
molecular genetics and pathogenesis, 722
treatment, 722
Centronuclear myopathy, 728–730
clinical features, 728–729
histopathology, 729–730, 729f, 730f
laboratory features, 729
molecular genetics and pathogenesis, 730
treatment, 730
Cerebral palsy, 203
Cerebro-ocular dysplasia. See Walker-Warburg syndrome (WWS)
Cerebrospinal fluid (CSF) analysis, 75
in meningoencephalitis, 228
in poliomyelitis, 226
in subacute motor neuronopathy, 234
Cerebrotendinous xanthomatosis
clinical features, 305
histopathology, 306
laboratory features, 305–306
molecular genetics and pathogenesis, 306
treatment, 306
Cervical orthoses, 149–150
Cervical radiculopathies, 507, 510–511
causes of, 505t
C6 radiculopathy, 510–511
C7 radiculopathy, 511
C8/T1 radiculopathy, 511
multiple, 511
Cervical spondylitic myelopathy, 184
CFS. See Cramp-fasciculation syndrome (CFS)
Chanarin–Dorfman syndrome, 765, 765f
Charcot–Marie–Tooth (CMT) disease, 184, 264–289, 266t, 267f, 268f, 559, 670
clinical features, 264, 266, 269f
CMT1A, 269–270
CMT1B, 270
CMT1C, 271
CMT1D, 271
CMT1E, 271
CMT1F, 271
CMT1G, 271
evoked potentials, 268
histopathology, 268–269, 269f, 270f
laboratory features, 266
molecular genetics and pathogenesis, 269–271
motor NCS, 266–268
motor nerve unit estimates, 268
needle electromyography, 268
nerve conduction studies (NCS) in, 266–268
sensory NCS, 268
clinical features, 272–274
histopathology, 274
laboratory features, 273–274
molecular genetics and pathogenesis, 274–275
subtypes of, 273–274
CMT3 (type 3), 275–276
histopathology, 276
laboratory features, 276
molecular genetics and pathogenesis, 276–277
CMT4 (type 4), 276–277
clinical features, 277
histopathology, 277–278, 278f, 279f
laboratory features, 276–277
molecular genetics and pathogenesis, 277–279
CMT1X
clinical features, 280
histopathology, 280–281
laboratory features, 280
molecular genetics and pathogenesis, 281
CMT2X, 281
DI-CMT (dominant intermediate CMT), 265t, 275
exercise studies in, 146
genetic testing in, 288–289
HMSN-Lom/CMT4D, 279–280
RI-CMT (recessive intermediate CMT), 265t, 275
X-linked CMT, 280–281
ChAT. See Choline acetyltransferase (ChAT)
Chemotherapy agents, and toxic neuropathy, 438, 439t
bortezomib, 442–443
carfilzomib, 443
cytosine arabinoside, 442
docetaxel, 441
etoposide, 440
ifosfamide, 442
oxaliplatin, 440
paclitaxel, 441
suramin, 441–442
vincristine, 440
vinorelbine, 440
Childhood bulbar syndromes, 213
Chlorambucil, 115t
for inflammatory myopathies, 862
Chloride channelopathies, 804–815
Chloroquine myopathy, 892, 892f
Chloroquine neuropathy, 451, 452f
Chlorothiazide, in potassium-sensitive periodic paralysis treatment, 812
Cholestanolosis. See Cerebrotendinous xanthomatosis
Cholesterol-lowering drugs, and toxic myopathies, 887–890
ezetimibe, 890
fibric acid derivatives, 890
HMG-CoA reductase inhibitors, 887, 889–890, 889f
niacin, 890
Choline acetyltransferase (ChAT), 629
deficiency, 631
Cholinesterase inhibitors, 636, 646
Chronic, idiopathic, length-dependent sensory or sensorimotor polyneuropathy, 478–485
clinical features, 478
histopathology, 480–481, 483f, 484, 484f
laboratory features, 478–480, 479t, 480f, 481f, 482t, 483f
pathogenesis, 484
Chronic immune sensory polyradiculopathy (CISP), 357–359
clinical features, 357
laboratory features, 357, 358f
treatment, 359
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), 321, 322, 340–352, 341t
clinical features, 340–342
diagnosis and differential diagnosis, 343–345, 343t
electrodiagnostic features, 346
motor conduction studies, 346–347
needle electromyography, 347
sensory conduction studies, 347
laboratory features, 346
medical conditions associated with, 346t
and related neuropathies, 340–360
Chronic liver disease, 391
Churg–Strauss syndrome (CSS), 375, 375f. See also Vasculitic meuropathies
Cimetidine, 896
Cisplatin, sensory neuropathy with, 438–440, 439t
clinical features, 438
histopathology, 438
laboratory features, 438
Clostridium botulinum, 638
CMAP. See Compound muscle action potential (CMAP)
CMS. See Congenital myasthenic syndrome (CMS)
CMT. See Charcot–Marie–Tooth syndrome (CMT)
Coats’ disease, 688
Cobalamin deficiency, 419–420
clinical features, 419
histopathology, 419
laboratory features, 419, 420f
pathogenesis, 419–420
treatment, 420
Cobrotoxin, 645
Cockayne syndrome, 309
Colchicine myopathy, 893, 894f
Colchicine neuropathy, 452–453
Collagen VI deficiency, 695
Collars, 149–150
Common fibular (peroneal) neuropathy, 572
Comparative gene identification- 58 (CGI-58), 766
Compartment syndromes, 573–574
Complementation, defined, 775
Compound muscle action potential (CMAP), 22, 25–27, 622. See also Electrodiagnosis (EDX)
Congenital fiber-type disproportion, 730–731
clinical features, 730
laboratory features, 731
molecular genetics and pathogenesis, 731
treatment, 731
Congenital hypomyelinating neuropathy, 276–277
Congenital indifference to pain, 287
Congenital insensitivity to pain with anhidrosis, 287
Congenital Lambert–Eaton like myasthenic syndrome, 631
Congenital muscular dystrophy (MDC), 662, 680
associated with genetic defects of structural proteins
merosin deficiency, 681–682
merosin-positive classic MDC, 682
associated with imparied glycoslylation, 683
associated with selenoprotein N1 mutations
rigid spine syndrome, 685
categories, 680
diagnosis and treatment, 685, 686f–687f
Congenital myasthenic syndrome (CMS), 620, 627t
clinical features, 626–633
diagnosis and differential diagnosis, 633–634
diagnostic clues, 628t–629t
histopathology, 634–635
pathogenesis, 635–636
postsynaptic, 631–633
presynaptic, 631
synaptic, 631
treatment, 636
Congenital myopathy, 719–737, 720t–721t
Congenital myotonic dystrophy, 797
Congestive heart failure (CHF), 663
Connective tissue diseases, neuropathies associated with, 384–387
mixed connective tissue disease, 387
rheumatoid arthritis, 386
scleroderma, 387
Sjögren syndrome, 384–386
systemic lupus erythematosus, 386–387
Connective tissue disease, vasculitis associated with, 376. See also Vasculitic meuropathies
Conotoxins, 647
Contiguous gene syndrome, 667
Contractures, rehabilitation program for, 164
Copper deficiency, 203, 422–423
clinical features, 422
histopathology, 423
laboratory features, 423
pathogenesis, 423
treatment, 423
Coral snakes, 645
Core-rod myopathy, 724
clinical features, 724
laboratory features, 724
molecular genetics and pathogenesis, 724
treatment, 724
Cori–Forbes disease, 747
Corticosteroids, 115t, 122–123
adverse effects, 123
in dystrophinopathies, 666
in inflammatory myopathies, 858–860
management considerations, 123
mechanism of action, 122
in MG, 122
uses, 122–123
in vasculitic neuropathy, 378–379
Corynebacterium diphtheriae, 410. See also Diphtheritic neuropathy
COX. See Cytochrome oxidase (COX)
CPT1. See Carnitine palmitoyltransferase 1 (CPT1)
CPT2 deficiency, 762
clinical features, 762
histopathology, 762
laboratory features, 762
molecular genetics and pathogenesis, 762
treatment, 762
Cramp–fasciculation syndrome (CFS), 238–243
clinical features, 238–239
diagnosis and differential diagnosis, 239–240, 240t
histopathology, 242–243
laboratory features, 240–242, 242f
pathogenesis, 243
treatment, 243
Cramps, 238–243
benign, 238
clinical features, 238–239
diagnosis and differential diagnosis, 239–240, 240t
histopathology, 242–243
laboratory features, 240–242
pathogenesis, 243
pathologic, 238
Creatine kinase (CK), 663
Creatine monohydrate, 751
Cricopharyngeal myotomy, 696–697
CRIM. See Cross-reactive immunologic material (CRIM)
Critical illness myopathy (CIM), 392
Critical illness neuropathy, 899–902
Critical illness polyneuropathy (CIP), 392–393
clinical features, 392
histopathology, 392–393
laboratory features, 392
pathogenesis, 393
treatment, 393
Crohn disease, 389
Cross-reactive immunologic material (CRIM), 747
Cryoglobulinemia, vasculitis associated with, 377. See also Vasculitic meuropathies
Cryoglobulins, 377
CV155 protein, 227
Cyclin-dependent kinases (CDK), 702
Cyclophosphamide, 115t, 117t, 124
for CIDP, 350t
for inflammatory myopathies, 862
Cyclosporine, 115t, 117t, 124–125
for inflammatory myopathies, 862–863
necrotizing myopathy by, 891
Cysticercosis, 857–858
Cytochrome oxidase (COX), 773
Cytosine arabinoside, toxic neuropathy with, 442
clinical features, 442
histopathology, 442
laboratory features, 442
pathogenesis, 442
D
DADS neuropathy. See Distal acquired demyelinating sensorimotor (DADS) neuropathy
Danon disease, 756
cause, 756
clinical features, 756
histopathology, 756
laboratory features, 756
molecular genetics and pathogenesis, 756
treatment, 756
Dantrolene, in hereditary spastic paraparesis, 204, 205t
DAP. See Dystrophin-associated proteins (DAP)
Dapsone, neuropathy by, 454
Davidenkow syndrome, 219–220
clinical features, 219
differential diagnosis, 219
electrodiagnosis, 220
histopathology, 220
laboratory features, 219–220
management, 220
pathogenesis, 220
Debranching enzyme deficiency, 747–748
Deflazacort, 666
Degenerative spine disease, 540
Dehydroepiandrosterone sulfate (DHEAS), 799
Dejérine–Sottas disease, 275–276
Dendrotoxin, 645
De novo mutations, 693
Deoxynucleoside triphosphates (dNTP), 776
De Quervain syndrome, 915–916
symptoms, 915
treatment, 916
Dermacentor andersoni, 641
Dermacentor variabilis, 641, 641f
Dermatomyositis (DM), 827–838. See also Inflammatory myopathies
associated manifestations
cardiac, 832
gastrointestinal, 832
malignancy, 834
pulmonary, 832
vasculopathy, 834
clinical features, 827, 831–832, 833f, 834f
electrophysiological features, 836
histopathology, 836–837, 836f, 837f
laboratory features, 834–835, 835t
pathogenesis, 837–838
prognosis, 838
Desmin, 660, 670–671, 679, 702
clinical features, 670–671
histopathology, 671
laboratory features, 671
molecular genetics and pathogenesis, 671
De Toni–Fanconi–Debré syndrome, 787
DHEAS. See Dehydroepiandrosterone sulfate (DHEAS)
Diabetes mellitus (DM), 466, 878. See also Diabetic neuropathy
Diabetic amyotrophy, 471–472
clinical features, 471
laboratory features, 471
pathogenesis, 472
treatment, 472
Diabetic cachexia, 563
Diabetic lumbosacral radiculoplexus neuropathy (DLRPN), 563–564
Diabetic muscle infarction, 878–879
clinical features, 878
laboratory features, 878
pathogenesis, 878
treatment, 879
Diabetic neuropathic cachexia (DNC), 470
clinical features, 470
histopathology, 470
laboratory features, 470
treatment, 470
Diabetic neuropathy, 62–63, 466–473, 467t
acute treatment–induced painful neuropathy, 473
autonomic neuropathy, 468–470
diabetic neuropathic cachexia, 470
diabetic polyradiculopathy/radiculoplexus neuropathy, 470–473
distal symmetric sensory polyneuropathy, 466–468
mononeuropathies/multiple mononeuropathies, 473
Diabetic radiculoplexopathy, 16
3,4 diaminopyridine (3,4 DAP), 625
in botulism treatment, 641
in LEMS treatment, 626
Dichlorfenamide, in potassium-sensitive periodic paralysis, 812
DI-CMTB. See Dominant intermediate Charcot–Marie–Tooth disease type B(DI-CMTB)
Diffuse fasciitis with eosinophilia, 851–852
clinical features, 851
laboratory features, 851, 851f
pathogenesis, 852
prognosis and treatment, 852
Dihydropyridine receptor, 661
Diphtheritic neuropathy, 410–411
clinical features, 410
histopathology, 410
laboratory features, 410
pathogenesis, 411
treatment, 411
Disorders of neuromuscular transmission (DNMT), 22, 32–35, 620, 621t. See also Electrodiagnosis (EDX)
Distal acquired demyelinating sensorimotor (DADS) neuropathy, 340, 341t, 353–354
clinical features, 353–354
histopathology, 354
laboratory features, 354
pathogenesis, 354
treatment, 354
with KLHL9 mutations, 700
with nebulin mutations, 700
treatment, 701
with VCPDM, 700–701
clinical features, 700–701
histopathology, 701
laboratory features, 701
molecular genetics and pathogenesis, 701
Distal spinal muscular atrophy (dSMA), 184, 218
classification, 218
clinical features, 218
differential diagnosis, 218
electrodiagnosis, 219
histopathology, 219
laboratory features, 219
management, 219
pathogenesis, 219
Distal symmetric polyneuropathy (DSP), HIV-related, 411–412, 412f
Distal symmetric sensory polyneuropathy (DSPN), 54–55, 466–468
clinical features, 466
histopathology, 467–468, 467f, 468f
laboratory features, 466–467
Disulfiram neuropathy, 453–454
DM. See Dermatomyositis (DM)
DM1. See Dystrophica myotonia type 1 (DM1)
DM2. See Dystrophica myotonia type 2 (DM2)
DMD. See Duchenne muscular dystrophy (DMD)
DNAJB6, 670
clinical features, 670
histopathology, 670
laboratory features, 670
molecular genetics and pathogenesis, 670
DNA mutational analysis, 63–64, 65–68t
DNMT. See Disorders of neuromuscular transmission (DNMT)
dNTP. See Deoxynucleoside triphosphates (dNTP)
Docetaxel
clinical features, 441
histopathology, 441
laboratory features, 441
pathogenesis, 441
Dok-7, 631
Dok-7 deficiency, 632
Dok-7 myasthenia, 635
Dolichyl-phosphate N-acetylglucosaminephos-photransferase 1 (DPAGT1), 629, 633
Dominant intermediate Charcot–Marie–Tooth disease type B(DI-CMTB), 729
Dopa-responsive dystonia, 185
Dorsal root ganglionopathies, 15
Dorsal scapular nerve, 493, 497f
injury to, 520
D-Penicillamine, 896
Dressing, adaptive equipment for, 157, 158f
Drisapersen, in dystrophin expression, 667
Driving, vehicle modifications for, 159
Drooling, 638
Dropped head syndrome, 695–696
clinical features, 695
laboratory features, 695
pathogenesis, 695
treatment, 695–696
Drug-induced hypersensitivity vasculitis, 377, 377f. See also Vasculitic meuropathies
Drug-induced hypokalemic myopathy, 902
Drug-induced inflammatory myopathies, 895–897
alpha-interferon, 897
cholesterol-lowering agents, 895
cimetidine, 896
D-penicillamine, 896
eosinophilia–myalgia syndrome, 895–896
imatinib mesylate, 897
lamotrigine, 897
L-Dopa, 897
phenytoin, 897
procainamide, 896
toxic oil syndrome, 896
tumor necrosis factor alpha blockers, 897
Drug-induced mitochondrial myopathy, 894–895
dSMA. See Distal spinal muscular atrophy (dSMA)
Duchenne muscular dystrophy (DMD), 656, 662–663
clinical features, 662–663, 662f
histopathology, 663, 663f, 664f
laboratory features, 663
Durable medical equipment (DME), 144
Dynamin-2 (DYN2), 729
neuromuscular disorders and, 167
and rehabilitation plan, 167–168
clinical features, 673–674, 674f
histopathology, 674
laboratory features, 674, 674f
molecular genetics and pathogenesis, 675
in white blood cell, 674
Dysferlinopathy, 675. See also Dysferlin
Dysphagia, 166. See Dysarthria
esophageal, 166
management, 166–167
neuromuscular diseases and, 166
oropharyngeal, 166
and rehabilitation plan, 166–167
symptoms, 166
Dystrobrevin, 656
Dystroglycan complex, 656
Dystrophica myotonia type 1 (DM1), 797–799
associated manifestations, 797–798
laboratory features, 798, 798f
molecular genetics and pathogenesis, 799
treatment, 799
Dystrophica myotonia type 2 (DM2), 799–801
associated manifestations, 800
clinical features, 799–800
histopathology, 800
laboratory features, 800
molecular genetics and pathogenesis, 800–801
treatment, 801
in brain, 656
carboxy-terminal domain of, 656
Dystrophin-associated proteins (DAP), 656
Dystrophin–glycoprotein complex, 656, 657f
Dystrophinopathies
Becker muscular dystrophy, 664–665
DMD, GKD, and adrenal hypoplasia congenita, 667–668
Duchenne muscular dystrophy, 662–663
electrodiagnostic testing, 663
exercise studies in, 146–147
limb-girdle muscular dystrophy, 668
molecular genetics and pathogenesis, 666
outliers, 665
treatment, 666–667
women carriers, 665–666
E
Eating and self-care, adaptive equipment for, 156–157, 157f
EBS. See Epidermolysis bullosa simplex (EBS)
EDMD. See Emery-Dreifuss muscular dystrophy (EDMD)
Edrophonium, in tick paralysis treatment, 642
Edrophonium testing, 600–602, 633
EDX. See Electrodiagnosis (EDX)
Electrodiagnosis (EDX), 15, 22–56, 504–505
basic principles
normative data, 24–25
other considerations, 25
physician skill and knowledge, 22
temperature considerations, 22, 23f
test construction and reporting, 24
timing considerations, 25
electrodiagnostic localization, 51–55, 52t
examination, performance of, 25
Lambert-Eaton myasthenic syndrome, 622–623, 622f
motor NCS, 505–506
insertional and spontaneous activity, 41–46, 42f–44f, 44t, 45t
motor unit action potential analysis, 46–47, 46f
motor unit action potential recruitment, 47
single fiber EMG (SFEMG) and other techniques, 47–50, 49f
nerve conduction studies
F waves and H reflexes, 30–32, 31f, 32f, 506
motor nerve conductions, 25–27, 27f, 28f, 29f
motor unit number estimates, 40–41
repetitive nerve stimulation, 32–34, 33f, 34f
sensory nerve conductions, 27–30, 30f
short- and long-exercise tests, 34–40, 35f, 36f, 37t, 38f–41f
nerve conduction studies (NCS), 504t
pathophysiology of nerve injury and, 50–51
as prognostic tool, 55–56
somatosensory-evoked potentials, 506
value and limitations of, 51
Electroencephalography, 683
of Walker-Warburg syndrome, 684
Electrolyte imbalance, myopathies associated with, 879–880, 879t
hypercalcemia, 880
hyperkalemia, 879–880
hypermagnesemia, 880
hypokalemia, 879
hypomagnesemia, 880
hypophosphatemia, 880
Electromyography (EMG), 22. See also Electrodiagnosis (EDX)
Electron-transferring flavoprotein (ETF), 760
Emery–Dreifuss muscular dystrophy (EDMD), 164, 661
autosomal-recessive, 693
causes, 693
clinical features, 693
histopathology, 693
laboratory features, 693
molecular genetics and pathogenesis, 693
characteristics of, 691
Emetine hydrochloride, 899
Endocrine myopathies, 872–877
adrenal disorders, 876–877
adrenal insufficiency, 877
hyperparathyroidism
and motor neuron disease, 875
and osteomalacia, 874–875
hypoparathyroidism, 875–876
hypothyroid myopathy, 873–874
parathyroid disorders, 874–876
steroid myopathy, 876–877
thyroid disorders, 872–874
thyrotoxic myopathy, 872–873
Endocrinopathies, neuropathies associated with, 466–475, 467t
acromegaly, 474
diabetic neuropathy, 466, 467t
acute treatment–induced painful neuropathy, 473
autonomic neuropathy, 468–470
diabetic neuropathic cachexia, 470
diabetic polyradiculopathy/radiculoplexus neuropathy, 470–473
distal symmetric sensory polyneuropathy, 466–468
mononeuropathies/multiple mononeuropathies, 473
hypoglycemia/hyperinsulinemia, 473–474
hypothyroidism, 474–475
End plate AChE deficiency, 633
Envenomations
arthropods, 646–647
drugs and metabolic disturbances, 647–648
marine envenomations, 647
snakes, 645–646
Environmental modifications, for function and quality of life, 159–160
Enzymatic proteins, 661–662
Enzyme replacement therapy (ERT), 747
Eosinophilia–myalgia syndrome, 895–896
Eosinophilic myopathy, 850–851
clinical features, 850
differential diagnosis, 850
laboratory features, 850
pathogenesis, 850
prognosis and treatment, 850–851
Epidermolysis bullosa simplex (EBS), 632
Erb palsy, 515
ERT. See Enzyme replacement therapy (ERT)
Erythema nodosum leprosum, 409
Erythromelalgia
clinical features, 287
histopathology, 287–288
laboratory features, 287
molecular genetics and pathogenesis, 288
treatment, 288
for inflammatory myopathies, 863
Eteplirsen, 667
ETF. See Electron-transferring flavoprotein (ETF)
Ethambutol, neuropathy by, 455–456
Ethylene oxide, neuropathy by, 458
Etoposide, toxic neuropathy with
clinical features, 440
histopathology, 440
laboratory features, 440
pathogenesis, 440
E3-ubiquitine ligase, 661, 675–676
clinical features, 675–676
histopathology, 676
laboratory features, 676
molecular genetics and pathogenesis, 676
Eulenburg disease. See Paramyotonia congenita (PMC)
Evidence-based medicine, 114
Examination. See Neuromuscular examination
Exercise, 144–145. See also specific type
adaptive sports, 148
aerobic and strengthening exercise, 145–148
balance training, 148
flexibility training, 145
recommendations for, 148, 150t
types of, 145t
Exercise forearm testing, 752, 755. See also Glycogenosis type VII
Extracorporeal shock wave therapy (ESWT), 921
Ezetimibe, myopathies by, 890
F
FA. See Friedreich ataxia (FA)
Fabry disease, 301
laboratory features, 301
molecular genetics and pathogenesis, 301
treatment, 301
Facial onset sensory and motor neuronopathy, 487–488
clinical features, 487
histopathology, 487
laboratory features, 487
pathogenesis, 488
treatment, 488
Facioscapulohumeral muscular dystrophy (FSHD), 18, 685–690, 688
clinical features, 685–688, 688f
diagnosis, 690
exercise studies in, 147
infantile-onset, 688
laboratory features, 688
molecular genetics and pathogenesis, 689–690, 689f
treatment, 690
FAD. See Flavin adenine dinucleotide (FAD)
Falls, rehabilitation program in, 162
fALS. See Familial amyotrophic lateral sclerosis (fALS)
Familial amyloid polyneuropathy (FAP), 395–397
apolipoprotein A1-related amyloidosis, 397
TTR-related amyloidosis, 395–397
Familial amyotrophic lateral sclerosis (fALS), 705
Familial dysautonomia, 286–287
Familial episodic pain syndrome
type 1, 288
type 2, 288
type 3, 288
Familial hypokalemic periodic paralysis type 2, 814–815
clinical features, 814
histopathology, 814
laboratory features, 814
treatment, 815
Fasciculations, 238–243
clinical features, 238–239
diagnosis and differential diagnosis, 239–240, 240t
histopathology, 242–243
laboratory features, 240–242, 241f
pathogenesis, 243
treatment, 243
Fasciculin, 645
Fasciotomy, 646
Fast channel syndromes, 633
Fazio Londe syndrome, 213
FCMD. See Fukuyama congenital muscular dystrophy (FCMD)
FDC. See Functional dual coating (FDC)
Femoral nerve, 541f, 542, 544, 546f, 548f
Femoral neuropathy, 570–571
Fiberoptic endoscopic evaluation of swallowing (FEES), 143, 166
Fibric acid derivatives, myopathies by, 890
Fibrofatty replacement, 669
Fibromyalgia, 882–883
Fibular (peroneal) nerve, 542f, 546, 549f
Filamin-C, 703
Finasteride myopathy, 898–899
Finger–nose test, 14
Fingerprint body myopathy, 732
clinical features, 732
histopathology, 732
laboratory features, 732
molecular genetics and pathogenesis, 732
treatment, 732
Flavin adenine dinucleotide (FAD), 759
Flexibility training, 145, 145t
Flick sign, 526
Floor reaction orthoses (FROs), 152, 152f
Floppy infant, 629
Fluoroquinolones, neuropathy by, 456
Focal mitochondrial depletion, 790–791
clinical features, 790
histopathology, 790–791
laboratory features, 790
molecular genetics and pathogenesis, 791
treatment, 791
Focal myositis, 853–854
clinical features, 853
histopathology, 853
laboratory features, 853, 854f
pathogenesis, 854
Folate deficiency, 421
Foodborne botulism, 637
Foot abnormalities, rehabilitation approach for, 163–164
Foot drop, rehabilitation of, 162–163
Forearm exercise test, 19, 779
Freeze-fracture analysis, 624
Friedreich ataxia (FA), 203, 306
clinical features, 306
histopathology, 306
laboratory features, 306
molecular genetics and pathogenesis, 306
treatment, 306
Frontotemporal lobar degeneration (FTLD), 174, 177, 189. See also Amyotrophic lateral sclerosis (ALS)
FROs. See Floor reaction orthoses (FROs)
FSHD. See Facioscapulohumeral muscular dystrophy (FSHD)
FTLD. See Frontotemporal lobar degeneration (FTLD)
Fukutin-related protein (FKRP), 661
Fukuyama congenital muscular dystrophy (FCMD), 661, 683
clinical features, 683
laboratory features, 683
molecular genetics and pathogenesis, 683
Functional dual coating (FDC), 639
Fungal myositis, 857
G
Gastric/bariatric surgery, peripheral neuropathy with, 422
Gastrocnemius muscles, 688
GBS. See Guillain–Barré syndrome (GBS)
Gelsolin-related amyloidosis, 397
histopathology, 397
molecular genetics and pathogenesis, 397
treatment, 397
Gene therapy, in dystrophinopathies treatment, 666–667
Genetic counseling, in hereditary spastic paraparesis, 205
Genitofemoral nerve, 541–542, 541f, 546f
Genitofemoral neuropathy, 569
GFPT1. See Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)
Giant axonal neuropathy, 309–310
clinical features, 309
laboratory features, 309
molecular genetics and pathogenesis, 310
Giant cell arteritis, 373. See also Vasculitic meuropathies
Gitelman syndrome, 817
Gleevec. See Imatinib mesylate
Globoid cell leukodystrophy. See Krabbe disease
Glue sniffer’s neuropathy, 458–459, 459f
l-Glutamic acid decarboxylase (GAD), 257
Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1), 629, 633
Glutaric aciduria type II. See Multi-acyl-CoA dehydrogenase deficiency (MADD)
Gluten-induced enteropathy. See Celiac disease
Glyceraldehyde 3-phosphate, 755
Glycerol kinase, 667
Glycerol kinase deficiency (GKD), 667–668
Glyceroluria, 667
Glycogen branching enzyme (GBE1), 750
Glycogenin 1 deficiency. See Glycogenosis type XV
Glycogenoses, 742
Glycogenosis type 0, 742–743
clinical features, 742–743
histopathology, 743
laboratory features, 743
molecular genetics and pathogenesis, 743
treatment, 743
Glycogenosis type II, 743–747
clinical features, 745
laboratory features, 745
molecular genetics and pathogenesis, 746–747
treatment, 747
Glycogenosis type III, 747–748
cause, 747
clinical features, 747
histopathology, 747–748
laboratory features, 747
molecular genetics and pathogenesis, 748
treatment, 748
Glycogenosis type IV, 748–750
cause, 748
clinical features, 748
laboratory features, 748
molecular genetics and pathogenesis, 750
treatment, 750
Glycogenosis type V, 750–751
clinical features, 750
histopathology, 750
laboratory features, 750
molecular genetics and pathogenesis, 750–751
treatment, 751
Glycogenosis type VII, 751–752
clinical features, 751
histopathology, 752
laboratory features, 752
molecular genetics and pathogenesis, 752
treatment, 752
Glycogenosis type VIII/IX, 752
clinical features, 752
histopathology, 752
laboratory features, 752
molecular genetics and pathogenesis, 752
treatment, 752
Glycogenosis type X, 753
clinical features, 753
histopathology, 753
laboratory features, 753
molecular genetics and pathogenesis, 753
treatment, 753
Glycogenosis type XI, 753
clinical features, 753
histopathology, 753
laboratory features, 753
molecular genetics and pathogenesis, 753
treatment, 753
Glycogenosis type XII, 753–754
clinical features, 753
histopathology, 753
laboratory features, 753
molecular genetics and pathogenesis, 753
treatment, 754
Glycogenosis type XIII, 754
clinical features, 754
histopathology, 754
laboratory features, 754
molecular genetics and pathogenesis, 754
treatment, 754
Glycogenosis type XIV, 754
clinical features, 754
histopathology, 754
laboratory features, 754
molecular genetics and pathogenesis, 754
treatment, 754
Glycogenosis type XV, 754
clinical features, 754
histopathology, 754
laboratory features, 754
molecular genetics and pathogenesis, 754
treatment, 754
Glycogen storage diseases (GSD), 19–20, 742
Glycolytic pathways, 744f. See also Glycogenosis type 0
GNE myopathy, 699, 704. See also Nonaka distal myopathy
Gold therapy, neuropathy by, 461
Gomori trichrome stain, 702, 726, 780
Gower maneuver, 745
Gowers sign, 719
Graft-versus-host disease (GVHD), 438
Granulomatosis with polyangiitis, 376. See also Vasculitic meuropathies
Granulomatous myositis, 852, 852f
Greater trochanteric bursitis, 918–919
symptoms, 918
treatment, 919
GSD. See Glycogen storage diseases (GSD)
Guanidine
in botulism treatment, 641
Guillain–Barre syndrome (GBS), 320–334, 639
acute inflammatory demyelinating polyradiculoneuropathy, 320–327
axonal GBS
acute motor axonal neuropathy (AMAN), 328–330
acute motor–sensory axonal neuropathy (AMSAN), 327–328
immune mechanisms in, 326f
and related disoders, 320, 321t
autoimmune autonomic neuropathy, 333–334
idiopathic sensory neuronopathy, 331–332
Miller Fisher syndrome, 330–331
small fiber neuropathies, 332–333
Guyon’s canal, 502
H
Hand weakness, rehabilitation approach for, 161–162
Hansen disease. See Leprosy
HBAT. See Heptavalent botulinum antitoxin (HBAT)
Head ptosis, rehabilitation approach in, 160
HELLP. See Hemolysis, elevated liver enzymes, low platelets (HELLP)
Hemolysis, elevated liver enzymes, low platelets (HELLP), 764
Heptavalent botulinum antitoxin (HBAT), 640
abetalipoproteinemia, 307–308
ataxia-telangiectasia, 308
ataxia with oculomotor apraxia type 1, 308
ataxia with oculomotor apraxia type 2, 308–309
Cockayne syndrome, 309
Friedreich ataxia, 306
vitamin E deficiency, 306–307
Hereditary IBM Type 3, 704–705
clinical features, 704
histopathology, 705
laboratory features, 705
molecular genetics and pathogenesis, 705
Hereditary inclusion body myopathies (H-IBM), 704
with cerebral hypomyelination, 705
with Paget disease and frontotemporal dementia, 705
causes, 705
Hereditary inclusion body myopathies with Paget disease and frontotemporal dementia (h-IBMPFD)
clinical features, 705
histopathology, 705
laboratory features, 705
molecular genetics and pathogenesis, 705
Hereditary inclusion body myopathy 2 (h-IBM2), 704
clinical features, 704
histopathology, 704
laboratory features, 704
molecular genetics and pathogenesis, 704
treatment, 704
Hereditary myopathy with early respiratory failure, 677–678
clinical features, 677–678
histopathology, 678
laboratory features, 678
molecular genetics and pathogenesis, 678
Hereditary myopathy with early respiratory failure (HMERF), 676
Hereditary neuralgic amyotrophy (HNA), 281–282, 519
clinical features, 281
histopathology, 282
laboratory features, 282
molecular genetics and pathogenesis, 282
Hereditary neuropathy with liability to pressure palsies (HNPP), 269, 270f, 271–272
clinical features, 271–272
laboratory features, 272
molecular genetics and pathogenesis, 272
Hereditary neuropathy with neuromyotonia, 282
Hereditary sensory and autonomic neuropathies (HSANs), 282–284, 283t
HSAN1
clinical features, 284
laboratory features, 284
molecular genetics and pathogenesis, 284
HSAN2
laboratory features, 284
molecular genetics and pathogenesis, 285–286
HSAN3
clinical features, 285–286
histopathology, 286
laboratory features, 286
molecular genetics and pathogenesis, 286–287
HSAN4
clinical features, 287
histopathology, 287
laboratory features, 287
molecular genetics and pathogenesis, 287
HSAN5
clinical features, 287
histopathology, 287
molecular genetics and pathogenesis, 287
Hereditary spastic paraparesis (HSP), 184, 199–206, 200t–201t
circumducting leg with equinovarus foot posturing, 199, 201f
hammer toes and cavus deformity, 199, 201f
complicated, 199
differential diagnosis, 202–203
histopathology, 204
laboratory features, 203
pathogenesis, 204
uncomplicated, 199
Herpes varicella-zoster (HVZ) infection, neuropathy with, 414–415
clinical features, 414
histopathology, 414
laboratory features, 414
pathogenesis, 414
treatment, 415
Hexacarbon toxicity, 458–459
Hexosaminidase A deficiency, 185
h-IBM2. See Hereditary inclusion body myopathy 2 (h-IBM2)
Hidden botulism, 638
Highly active antiretroviral therapy (HAART), 895
Hip joint osteoarthritis, 917–918
symptoms, 917
treatment, 918
clinical features, 216
asymmetric forearm and hand atrophy, 216, 216f
tremor and cold paresis, 216
differential diagnosis, 216–21
electrodiagnosis, 217
histopathology, 217
laboratory features, 217
management, 217–218
pathophysiology, 217
History taking, 3–10. See also Neuromuscular disorders
ankle weakness, 7
autonomic system function impairment, symptoms of, 9–10
elbow flexion and extension weakness, 7
extraocular muscle involvement, 7
hip flexion, weakness of, 7
hypoventilation symptom, 8–9
jaw weakness, 7
knee extensor weakness, 7
lower motor neuron disorders, 6–7
neck muscles, weakness of, 8, 8t
pain history, 10
questioning in, 5
shoulder girdle weakness, 7
symptoms identification, 5
system review, 5
tongue weakness, 7–8
UMN involvement, 6
ventilatory muscle weakness, 8, 8t
wrist and digit weakness, 7
HIV. See Human immunodeficiency virus (HIV)
HMERF. See Hereditary myopathy with early respiratory failure (HMERF)
HMG-CoA reductase inhibitors, myopathies by, 887, 889–890, 889f
HMSN IV. See Refsum disease
HMSN-Lom, 279–280
HNA. See Hereditary neuralgic amyotrophy (HNA)
HNPP. See Hereditary neuropathy with liability to pressure palsies (HNPP)
Holocyclotoxin, 643
Holter monitoring, 667
Horner syndrome, 491
H reflex, 30–32, 32f, 506, 622
HSP. See Hereditary spastic paraparesis (HSP)
Hu antigens, 428
Human Genome Organization, 680
Human immunodeficiency virus (HIV), 854–855
peripheral neuropathy with, 411–414, 411t
autonomic neuropathy, 413
distal symmetric polyneuropathy, 411–412
inflammatory demyelinating polyneuropathy, 412
multiple mononeuropathies, 413
progressive polyradiculopathy, 412–413
sensory neuronopathy/ganglionopathy, 413–414
Human T-leukemia virus 1 (HTLV-1), 414, 855
Humeral cuff slings, 150
Hutchinson–Gilford progeria syndrome, 670
Hyaline body myopathy, 732–734
clinical features, 732
laboratory features, 733
molecular genetics and pathogenesis, 733–734
treatment, 734
Hydroxychloroquine myopathy, 892
Hydroxychloroquine neuropathy, 451–452
Hypercalcemia, 880
Hyperekplexia, 258–259
clinical features, 258
diagnosis and differential diagnosis, 258
histopathology, 259
laboratory features, 258–259
pathogenesis, 259
treatment, 259
Hypereosinophilic syndrome (HES), 390, 850
Hyperglycerolemia, 667
Hyperkalemia, 879–880
Hyperparathyroidism
and motor neuron disease, 875
and osteomalacia, 874–875
Hypersensitivity vasculitis, 377, 377f. See also Vasculitic meuropathies
Hypertension and tick paralysis, 642
Hyperuricemic syndromes, 757
Hypoglycemia/hyperinsulinemia, 473–474
clinical features, 473
histopathology, 474
laboratory features, 473–474
pathogenesis, 474
treatment, 474
Hypokalemia, 879
HYPOKPP1. See Primary hypokalemic periodic paralysis type 1 (HYPOKPP1)
Hypomagnesemia, 880
Hypoparathyroidism, 875–876
clinical features, 875–876
histopathology, 876
laboratory features, 876
pathogenesis, 876
treatment, 876
Hypothyroidism, 474–475
clinical features, 474
histopathology, 474
laboratory features, 474
pathogenesis, 474
treatment, 474
Hypothyroid myopathy, 873–874
clinical features, 873
histopathology, 874
laboratory features, 873–874
pathogenesis, 874
treatment, 874
Hypotonia, 638
I
IBM. See Inclusion body myositis (IBM)
Idiopathic polyneuropathies, 478–488
chronic, idiopathic, length-dependent sensory or sensorimotor polyneuropathy, 478–485
facial onset sensory and motor neuronopathy, 487–488
idiopathic sensory neuronopathy/ganglionopathy, 485–487
idiopathic small fiber sensory neuronopathy, 487
Idiopathic sensory neuronopathy, 485–487
clinical features, 485–486
histopathology, 486
laboratory features, 486
pathogenesis, 486
treatment, 486–487
Idiopathic sensory neuronopathy/ganglionopathy, 331–332
clinical features, 331
histopathology, 332
laboratory features, 332
pathogenesis, 332
treatment, 332
Idiopathic sensory/sensorimotor polyneuropathy with cancer, 430–431
clinical features, 430
histopathology, 430
laboratory features, 430
pathogenesis, 430–431
treatment, 431
Idiopathic small fiber sensory neuronopathy, 487
clinical features, 487
histopathology, 487
laboratory features, 487
pathogenesis, 487
treatment, 487
Ifosfamide, 442
IGRA. See Interferon (IFN) gamma release assay (IGRA)
Iliohypogastric nerve, 541, 546f
Iliohypogastric neuropathy, 569
Ilioinguinal neuropathy, 568–569
Imaging, nerve and muscle, 75–78
Imatinib mesylate, 897
Immune-mediated brachial plexus neuropathy (IBPN), 514–515
Immune-mediated necrotizing myopathy (IMNM), 848–849. See also Inflammatory myopathies
clinical features, 848–849
laboratory features, 849
pathogenesis, 849
treatment, 849
Immunohistochemistry, 92–93, 94f
Immunomodulating therapy, 114–131
drugs used, 115–116t
general considerations, 114, 116, 118
immunosuppressive therapy, 117t
individual treatments modalities, 120
alemtuzumab, 120–121
azathioprine, 121–122
corticosteroids, 122–123
cyclophosphamide, 124
cyclosporine, 124–125
eculizumab, 125
etanercept, 125–126
infliximab, 126
interferon α and β, 126
intravenous immunoglobulin, 126–128
methotrexate, 128–129
mycophenolate mofetil, 129–130
plasma exchange, 130
rituximab, 130–131
tacrolimus, 131
in MG, 605–608
risk considerations with, 118–120
cancer, 120
infectious disease, 118–120
Pneumocystis jirovecii, 118–119
pregnancy and children, 120
progressive multifocal leukoencephalopathy, 119
stongyloidiasis, 119–120
tuberculosis, 119
vaccines, 120
Immunomodulation, definition of, 114. See also Immunomodulating therapy
Immunosuppression, definition of, 114. See also Immunomodulating therapy
Immunosuppressive therapy, 859t. See also Immunomodulating therapy
for vasculitic neuropathy, 378–379
IMNM. See Immune-mediated necrotizing myopathy (IMNM)
Impaired glucose tolerance (IGT), 466–467, 478
Inborn errors of metabolism, biochemical testing for, 64, 68, 69t
Inclusion body myositis (IBM), 18, 663, 843–848. See also Inflammatory myopathies
associated manifestations, 844
clinical features, 843–844, 843f
differential diagnosis, 848
electrophysiological studies, 845
histopathology, 845–847, 845f–847f
laboratory features, 844, 844f, 845f
pathogenesis, 847–848
prognosis, 848
role of exercise in, 147
Infantile botulism, 637
Infantile neuroaxonal dystrophy, 310
Infantile spinal muscular atrophies, non-SMN, 212–213
Infection, neuropathies associated with, 404–415, 405t
cytomegalovirus infection, 414
diphtheritic neuropathy, 410–411
Epstein–Barr virus infection, 414
hepatitis viruses, 414
herpes varicella-zoster (HVZ) infection, 414–415
autonomic neuropathy, 413
distal symmetric polyneuropathy, 411–412
inflammatory demyelinating polyneuropathy, 412
multiple mononeuropathies, 413
progressive polyradiculopathy, 412–413
sensory neuronopathy/ganglionopathy, 413–414
human T-lymphocyte type 1 (HTLV-1) infection, 414
leprosy, 404–409
Lyme disease, 409–410
Infection-related vasculitis, 376. See also Vasculitic meuropathies
Infiltrating tumors, 431, 432f, 433f
Inflammatory bowel disease, 389
Inflammatory demyelinating polyneuropathy, HIV-related, 412
Inflammatory myopathies, 827–863
bacterial infections, 856
Behcet’s disease, 853
Bohan and Peter criteria, 827, 832t
clinical and laboratory features, 828t
dermatomyositis, 827–838
diagnostic criteria, 829–831t
diffuse fasciitis with eosinophilia, 851–852
eosinophilic myopathy, 850–851
European neuromuscular center 2011 workshop criteria, 831t
exercise studies in, 147
focal myositis, 853–854
fungal myositis, 857
granulomatous and giant cell myositis, 852
immune-mediated necrotizing myopathy, 848–849
incidence, 827
inclusion body myositis, 843–848
myositis associated with Lyme disease, 856
overlap syndrome, 841–843
parasitic infections
cysticercosis, 857–858
toxoplasmosis, 858
polymyositis, 838–841
sarcoid myopathy, 852–853
treatment, 858–863
azathioprine, 861–862
chlorambucil, 862
concurrent management, 860
corticosteroids, 858–860
cyclophosphamide, 862
cyclosporine, 862–863
etanercept, 863
infliximab, 863
intravenous immunoglobulin, 861
methotrexate, 861
mycophenylate mofetil, 862
plasmapheresis or leukapheresis, 863
rituximab, 862
second-line therapies, 860
tacrolimus, 863
thymectomy, 863
total body irradiation, 863
viral infections
human immunodeficiency virus, 854–855
human T-cell leukemia virus type 1, 855
influenza viruses, 855–856
other viral-related myositis, 856
for inflammatory myopathies, 863
Influenza viruses, 855–856
Interferon (IFN) gamma release assay (IGRA), 119
International Classification of Functioning, Disability and Health (ICF) model, on impairments, 143
Interstitial lung disease (ILD), 832
Intrathecal baclofen, in hereditary spastic paraparesis, 204, 205t
Intravenous β, for cardioprotection, 645
Intravenous immunoglobulin (IVIg), 115t, 117t, 126–128, 227, 229
adverse effects, 127–128
for inflammatory myopathies, 861
management considerations, 128
mechanism of action, 126–127
for MG, 607
uses, 127
Ipecac, 899
Isaacs syndrome (IS), 243–248, 245t
clinical features, 243–245
diagnosis and differential diagnosis, 245–246
histopathology, 247
laboratory features, 246–247, 247f
myokymic discharges, 246–247, 247f
neuromyotonic discharges, 246, 247f
pathogenesis, 247–248
treatment, 248
Isoniazid (INH), neuropathy by, 455
Isotretinoin, 902
IVIg. See Intravenous immunoglobulin (IVIg)
Ixodes scapularis, 641
Ixodid tick, 641
J
Jerking stiff-man syndrome, 255
Jimmo vs. Kathleen Sebelius, 144
Jitter values, 623
Jo-1 antibodies, 832
John Cunningham (JC) virus, 119
K
KAFOs. See Knee-ankle-foot-orthoses (KAFOs)
Kearns-Sayre syndrome (KSS), 775, 784–785
clinical features, 784–785
histopathology, 785
laboratory features, 785
molecular genetics and pathogenesis, 785
treatment, 785
Kelch-like homologue 9 (KLHL9), 700
Kennedy disease, 15, 183, 213–215, 622
clinical features, 213–214