Index

Index
Note: Page numbers of article titles are in boldface type.
A

AAC. See Augmentative and alternative communication (AAC)

Acid maltase deficiency

diagnostic evaluation of, 554–555

Acute inflammatory demyelinating polyradiculoneuropathy (AIDP)


electrodiagnostic evaluation of, 570–571

Adult nonhereditary motor neuron disease


Aerobic exercises

in dystrophinopathies

studies of, 659

general benefits of, 655

for NMDs, 645–646

AIDP. See Acute inflammatory demyelinating polyradiculoneuropathy (AIDP)

Alcoholic polyneuropathy


ALS. See Amyotrophic lateral sclerosis (ALS)

ALSFRS-revised

in NMDs assessment, 485

Amyotrophic lateral sclerosis (ALS)

ACC in, 690–692



exercise studies in, 664–665

familial

diagnostic evaluation of, 523

molecular diagnostic testing in, 601–602

limb contractures in, 680

sporadic


Arsenic polyneuropathy


Arthrogryposis


Assistive robots

for upper-limb function improvement in pediatric NMDs, 710–714

Ataxia(s)

Friedreich


hereditary


Phys Med Rehabil Clin N Am 23 (2012) 731–749http://dx.doi.org/10.1016/S1047-9651(12)00061-7 pmr.theclinics.com1047-9651/12/$ – see front matter ª 2012 Elsevier Inc. All rights reserved.

http://dx.doi.org/10.1016/S1047-9651(12)00061-7

http://pmr.theclinics.com

Index732

Ataxia(s) (continued)

spinocerebellar


Atrophy

neurogenic

patterns of, 621–626

Augmentative and alternative communication (AAC)

for complex communication needs, 694–696

brain-computer interface, 695–696

eye gaze tracking, 694–695

gesture tracking, 695

head movement tracking, 695

speech recognition, 695

for persons with progressive NMDs, 689–699

ALS, 690–692

DMD, 692–693

MMD, 693–694

SMA, 694

Autoimmune myasthenia gravis


Axon loss

demyelinating neuropathies and

electrodiagnostic evaluation of, 573

Axonal mixed sensorimotor neuropathies


Axonal neuropathies with predominant motor involvement


Axonal sensory neuropathies


B

Balance

impaired

NMDs and

physical therapy for, 646–647

Becker muscular dystrophy



Body composition

DEXA of

in NMDs diagnosis, 521

Botulism


infantile


noninfantile acquired


Brain-computer interface

ACC for, 695–696

Breathing exercises

in physical therapy evaluation in NMDs, 647–648

Index 733

Brooke upper extremity functional grade

in NMDs assessment, 485–486

C

Cardiac evaluation


Carnitine palmitoyltransferase II deficiency (CPT2)


Cerebellar examination


Channelopathy(ies)


Charcot-Marie-Tooth disease






subtypes of, 529–535

Chemotherapeutic agents


Children

NMDs in

described, 701–702

upper-limb function improvement in

management strategies, 701–717

assistive robots and orthoses, 710–714

compensatory techniques, 706–709

feeders, 712

OT treatment, 704–705

remediation techniques, 705

robotics, 709–714

upper-limb presentation, 702–703

OT assessment of, 703–704

Chondrodystrophic myotonia


Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)



Chronic pain

in NMDs, 719–729

as disease burden, 724

future considerations and directions, 724–725

literature review on, 722–724

overlooking of, 720–722

CIDP. See Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)

CMSs. See Congenital myasthenic syndromes (CMSs)

Cognitive assessment

in NMDs diagnosis, 508–509

Communication

augmentative and alternative

Index734

Communication (continued)

for persons with progressive NMDs, 689–699. See also Augmentative and

alternative communication (AAC)

Congenital hypomyelinating neuropathy


Congenital muscular dystrophy



Congenital myasthenic syndromes (CMSs)



Congenital myopathies




Contracture(s)

limb

measurement of


in NMDs


management of, 675–687. See also Limb contractures, in NMDs

CPT2. See Carnitine palmitoyltransferase II deficiency (CPT2)

Cramp(s)

muscle

causes of, 500–501

Cranial nerve examination


D

Deconditioning

in NMDs

deleterious effects of, 655–656

Deep tendon reflexes (DTRs)

assessment of


Dejerine-Sottas syndrome


Demyelinating neuropathies

axon loss combined with


Dermatomyositis


DEXA. See Dual-energy x-ray absorptiometry (DEXA)

dHMN. See Distal hereditary motor neuropathies (dHMN)

Diabetic polyneuropathy


Disease-specific functional rating scales

in NMDs assessment

Distal hereditary motor neuropathies (dHMN)


Index 735

molecular diagnostic testing in, 594

Disuse weakness

in NMDs


DM1. See Myotonic muscular dystrophy type 1 (DM1)

DM2. See Proximal myotonic myopathy (DM2)

DME. See Durable medical equipment (DME)

DTRs. See Deep tendon reflexes (DTRs)

Dual-energy x-ray absorptiometry (DEXA)

of body composition


Duchenne muscular dystrophy (DMD)

ACC in, 692–693


limb contractures in, 677, 678

Durable medical equipment (DME)

assessment of

in physical therapy evaluation in NMDs, 642

Dystrophinopathy(ies)




Dystrophy(ies). See specific disorders

E

Egen Klassifikation scale


Electrodiagnostic studies

in NMDs, 521, 565–587. See also specific disorders

channelopathies, 584–585

general approach to, 566–567

motor neuron diseases, 573–581

myopathies, 581–585

neuropathies, 567–573

Electromyography (EMG)

in muscle evaluation

in NMDs, 611

Emery-Dreifuss muscular dystrophy (EMD)

diagnostic evaluation of, 543, 548

EMD1, 543, 548

EMD2, 548

limb contractures in, 677, 679


EMG. See Electromyography (EMG)

Encephalomyopathy(ies)

mitochondrial


neurogastrointestinal

mitochondrial


Index736

Exercise(s). See also specific types

aerobic


studies of, 659


for NMDs, 645–646

breathing


general benefits of, 654–655

in NMDs, 653–673

benefits of

general, 654–655

potential, 655

studies documenting, 656–657

clinical trials of

challenges in study design for, 657

studies of, 657–666. See also specific disorders

in hereditary muscular dystrophies, 657–661

in motor neuron diseases, 664–666

in myopathies, 662–664

strengthening

for dystrophinopathies

studies of, 658–659

for NMDs, 645–646

stretching

for NMDs, 643–644

Eye gaze tracking

ACC for, 694–695

F

Facioscapulohumeral muscular dystrophy (FSHD)




Familial amyotrophic lateral sclerosis (ALS)



Feeders

for upper-limb function improvement in pediatric NMDs, 712

Friedreich ataxia


FSHD. See Facioscapulohumeral muscular dystrophy (FSHD)

Functional mobility


G

Gait

impaired

NMDs and


Index 737

General examination


Gesture tracking

ACC for, 695

Glue sniffing


Glycogen storage disease type V

exercise studies in, 662

Glycogenesis type 2


Guillain-Barre syndrome



H

Head movement tracking

ACC for, 695

Hereditary ataxias


Hereditary muscular dystrophies


Hereditary myopathies


Hereditary neuropathies


Hyperkalemic periodic paralysis


Hypokalemic periodic paralysis


Hypotonia

infantile

differential diagnosis of, 512–514

I

Inclusion body myositis


Infantile botulism


Infantile hypotonia

differential diagnosis of, 512–514

Inflammatory myopathies




Inspection at rest

in NMDs diagnosis, 501, 505–507

K

Kearns-Sayre syndrome


Index738

Kennedy disease


Kugelberg-Weilander syndrome


L

Laboratory evaluations

in NMDs diagnosis, 518–521. See also Neuromuscular disease(s) (NMDs), diagnostic

evaluation of, laboratory evaluations in

Lambert-Eaton myasthenic syndrome (LEMS)


Lead polyneuropathy


LEMS. See Lambert-Eaton myasthenic syndrome (LEMS)

LGMD. See Limb-girdle muscular dystrophy (LGMD)

Limb contractures

in NMDs, 675–687

ALS, 680

arthrogryposis, 679

Becker muscular dystrophy, 677

Charcot-Marie-Tooth disease, 680

congenital muscular dystrophies, 679

congenital myopathies, 679


diagnosis evaluation of, 516

DMD, 677, 678

EMD, 677, 679

fatty tissue infiltration with, 677

fibrosis associated with, 677

imbalance of agonist and antagonist muscles related to, 676–677

lower-limb contractures

rehabilitation management of, 681–682

surgical management of, 682–683

management of, 680–684

rehabilitation-related, 681–684

surgical, 682–684

pathogenesis of, 676–677

slowly progressive muscular dystrophies, 679

SMA, 680

static positioning of, 676

upper-limb contractures

rehabilitation management of, 683–684

surgical management of, 684

Limb-girdle muscular dystrophy (LGMD)




M

McArdle disease


Index 739


MELAS. See Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes

(MELAS)

Mercury poisoning


Metabolic myopathies



Metabolic neuropathies


Mitochondrial encephalomyopathies


Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS)


Mitochondrial myopathies



Mitochondrial neurogastrointestinal encephalomyopathy


Mixed sensorimotor neuropathies

axonal


Molecular diagnostic testing

in NMDs. See also specific diseases

congenital myasthenic syndromes, 602–603


general approach to, 591–592

hereditary myopathies, 594–601

hereditary neuropathies, 592–594

motor neuron disorders, 601–602

practical approach to, 589–608

Molecular genetics studies


Motor function measure


Motor neuron diseases. See also specific diseases, e.g., Amyotrophic lateral sclerosis (ALS)


ALS, 522–523

SMA

predominantly promixal, 523–526


adult nonhereditary motor neuron disease, 574–577

ALS, 574–577

botulism, 581


Kennedy disease, 574

LEMS, 580–581

myasthenia gravis, 579–580

NMJ disorders, 578–579

polio, 577–578

SMA, 574

Index740

Motor neuron (continued)



patterns of weakness in, 502–503

Muscle(s)

imaging of


Muscle biopsy evaluation

in NMDs, 521, 609–631


EMG in, 611

indications for, 610–612

muscle selection for, 610–612

needle biopsy, 615–617

open procedure, 612–615

reference laboratories for, 618

results’ interpretation, 618–630


normal muscle structure and appearance, 620–621

patterns of NMDs, 621–630

specimen from

shipping and handling of, 618

Muscle cramps

causes of, 500–501

Muscular dystrophy(ies)

Becker



congenital



Duchenne. See Duchenne muscular dystrophy (DMD)

Emery-Dreifuss. See Emery-Dreifuss muscular dystrophy (EMD)

facioscapulohumeral. See Facioscapulohumeral muscular dystrophy (FSMD)

hereditary


limb-girdle




oculopharyngeal


progressive


slowly progressive


Myasthenia gravis

autoimmune



Myoclonus epilepsy with ragged red fibers

Index 741


Myopathy(ies)

congenital




diagnostic evaluation of, 538–558. See also Myotonic disorders; specific diseases and

types, e.g., Limb-girdle muscular dystrophy (LGMD)

congenital muscular dystrophy, 548

congenital myopathies, 548–549

DMD, 538–539

dystrophinopathies, 538–540

EMD, 543, 548

FSHD, 541–543

inflammatory myopathies, 552–553

LGMDs, 543–547

metabolic myopathies, 554–556

mitochondrial encephalomyopathies, 556–558

myotonic disorders, 549–552


congenital myopathies, 582

described, 581

inflammatory myopathies, 583–584

metabolic myopathies, 583

mitochondrial myopathies, 582

progressive muscular dystrophies, 582


hereditary


inflammatory




metabolic



mitochondrial



overwork weakness in

theoretical risks associated with, 656


Myophosphorylase deficiency


Myositis

inclusion body


Myotonia


Myotonia congenita


Index742

Myotonia congenita (continued)


Myotonic disorders


chondrodystrophic myotonia, 551

DM1, 549–550

DM2, 550

myotonia congenita, 550–551

paramyotonia congenita, 551

Schwartz-Jampel syndrome, 551

Myotonic dystrophies


Myotonic muscular dystrophy type 1 (DM1)

ACC in, 693–694



Myotonic muscular dystrophy type 2 (DM2)


N

N-hexane use


NARP. See Neuropathy, ataxia, and retinitis pigmentosa (NARP)

Needle biopsy

in muscle biopsy evaluation in NMDs, 615–617

Nerve(s)

biopsy of

evaluation of


Neurogenic atrophy


Neuromuscular disease(s) (NMDs). See alsoMyopathy(ies); specific diseases or types, e.g.,

Amyotrophic lateral sclerosis (ALS)

ACC for persons with, 689–699. See also Augmentative and alternative communication

(AAC)

causes of, 496

deconditioning in


described, 475–476, 720

diagnostic evaluation of, 479–487, 495–563

ALS, 522–523

cardiac evaluations in, 487

clinical clues in, 522


disease-specific functional rating scales in, 485–486

family history in, 501

hereditary ataxias, 526–527

laboratory evaluations in, 518–521

of body composition by DEXA, 521

electrodiagnostic studies, 521

Index 743

molecular genetics studies, 521

muscle and nerve biopsy evaluation, 521

muscle imaging, 520–521

of NMJ disorders, 520

serum laboratory studies, 518–520

motor neuron diseases, 522–526

myopathies, 538–558

neuropsychological tests in, 487

NMJ transmission disorders, 537–538

overview of, 496–497

patient history in, 497–501

peripheral nerve disorders, 527–537

physical examination in, 501–518

cerebellar examination, 515

cognitive assessment, 508–509

cranial nerve examination, 509–510

DTRs, 515

functional examination, 516–518

general examination, 507–508

inspection at rest, 501, 505–507

limb contractures, 516

myotonia, 515–516

sensory examination, 515

spinal deformity, 516

strength assessment, 510–511, 514–515

tone assessment, 510, 512–514

predominantly proximal SMA, 523–526

pulmonary evaluations in, 487

ROM–related, 483–484

spine deformity evaluations in, 486–487

strength-related, 481–483

timed function tests in, 484–485

disease burden in, 719–729. See also Chronic pain, in NMDs

disuse weakness in


electrodiagnosis in, 565–587. See also Electrodiagnostic studies, in NMDs

exercise in, 653–673. See also Exercise(s), in NMDs

genetic testing in, 589–590

hereditary basis of, 590–591

limb contractures in, 675–687. See also Limb contractures, in NMDs

management of

described, 476

multidisciplinary

neuromuscular medicine and physiatry specialists in, 475–493

ongoing management/anticipatory guidance, 488

PRO measures, 487–488

team involvement in, 477–479

toolkits of assessments and interventions for, 479

molecular diagnostic testing in

practical approach to, 589–608. See also specific diseases andMolecular diagnostic

testing, in NMDs

Index744

Neuromuscular (continued )

most common, 496

muscle biopsy evaluation in, 609–631. See also specific diseases and Muscle biopsy

evaluation, in NMDs

overwork weakness in



disease-specific changes, 627–630

myopathic changes, 626–627

neurogenic atrophy, 621–626

pediatric

upper-limb function improvement in

management strategies, 701–717. See also specific strategies and Children,

NMDs in, upper-limb function improvement in, management strategies

physical therapy evaluation in, 633–651. See also Physical therapy evaluation, in NMDs

physical therapy for, 633–651. See also Physical therapy, for NMDs

prevalence of, 476

reported needs of persons with, 476–477

sedentary status in


WHO International Classification of Functioning, Disability, and Health related to, 479

Neuromuscular junction (NMJ) disorders


laboratory evaluation of, 520

Neuromuscular junction (NMJ) pathology


Neuromuscular junction (NMJ) transmission disorders


autoimmune myasthenia gravis, 537

CMSs, 537–538

infantile botulism, 538

noninfantile acquired botulism, 538

Neuromuscular medicine

physiatry and

in multidisciplinary management of NMDs, 475–493

Neuronopathy(ies)

anatomic distribution of, 504–505

Neuropathy(ies)

congenital hypomyelinating



axonal mixed sensorimotor neuropathies, 572

axonal neuropathies with predominant motor involvement, 572–573

axonal sensory neuropathies, 573

combined axon loss and demyelinating neuropathies, 573

motor neuron disease, 573–581

segmental demyelinating neuropathies, 569–572

uniform demyelinating neuropathies, 567–569

hereditary


metabolic

Index 745


peripheral



toxic. See Toxic neuropathies

Neuropathy, ataxia, and retinitis pigmentosa (NARP)


Neuropsychological tests


Nine-hole peg test


NMDs. See Neuromuscular disease(s) (NMDs)

NMJ. See Neuromuscular junction (NMJ)

Noninfantile acquired botulism


North Star Ambulatory Assessment (NSAA)


O

Occupational therapy (OT)


assessment prior to, 703–704

Oculopharyngeal muscular dystrophy


Organophosphate poisoning


Orthoses

assistive


OT. See Occupational therapy (OT)

Overwork weakness

in myopathies and NMDs


P

Pain

assessment of


chronic

in NMDs, 719–729. See also Chronic pain, in NMDs

relief from

in NMDs


Paramyotonia congenita



Peripheral nerve disorders


AIDP, 527–528

Index746

Peripheral (continued )

Charcot-Marie-Tooth disease, 528–535

CIDP, 528

Guillain-Barre syndrome, 527–528

metabolic neuropathies, 536–537

toxic neuropathies, 535–536

Peripheral neuropathies



Physiatry

neuromuscular medicine and

in multidisciplinary management of NMDs, 475–493

Physical examination

in NMDs diagnosis, 501–518. See also Neuromuscular disease(s) (NMDs), diagnostic

evaluation of, physical examination in

Physical therapist

role in NMDs, 634–637

in home, 636

in NMD clinic, 634–635

in outpatient clinic, 635–636

in research, 637

in school, 636–637

in workplace, 637

Physical therapy

for NMDs, 633–651

aerobic exercises in, 645–646

breathing exercises in, 647–648

for impaired gait and balance, 646–647

for pain relief, 644–645

strengthening exercises in, 645–646

stretching exercises in, 643–644

TENS in, 644

Physical therapy evaluation

in NMDs, 633–651

contracture measurements, 641–642

DME assessment, 642

functional mobility, 642

outcome measures, 637–641

pain assessment, 642

strength testing, 641

POEMS syndrome


Poisoning(s)

mercury


organophosphate


Polio


Polymyositis


Index 747

Polyneuropathy(ies)

alcoholic


arsenic


diabetic


lead


Pompe disease


Porphyria


Postpolio syndrome


Progressive muscular dystrophies


Progressive resistive exercise


Prototypical metabolic myopathy


Proximal myotonic myopathy (DM2)


Pulmonary evaluations


Q

Quantitative strength testing


R

Range-of-motion (ROM) assessments

in NMDs, 483–484

Rehabilitation

for lower-limb contractures in NMDs, 681–682

for upper-limb contractures in NMDs, 683–684

Repetitive strength testing


Respiratory muscle training


studies of, 659

Rest

inspection at


Robot(s)

assistive


Robotics


ROM. See Range-of-motion (ROM)

Index748

S

SBMA. See Spinobulbar muscular atrophy (SBMA)

Schwartz-Jampel syndrome


Sedentary status

in NMDs


Segmental demyelinating neuropathies


Sensory examination


Sensory neuropathies

axonal


Serum laboratory studies


Six-minute walk test


Slowly progressive muscular dystrophies


Speech recognition

ACC for, 695

Spinal deformity

in NMDs diagnosis, 486–487, 516

Spinal muscular atrophy (SMA)

ACC in, 694




predominantly proximal


SMA I, 523–525

SMA II, 525

SMA III, 525–526

Spinobulbar muscular atrophy (SBMA)

x-linked


Spinocerebellar ataxias


Strength testing

in NMDs, 481–483, 510–511, 514–515

in physical therapy evaluation, 641

quantitative strength testing, 514–515

repetitive strength testing, 515

Strength training


Strengthening exercises

for dystrophinopathies

studies of, 658–659

for NMDs, 645–646

Index 749

Stretching exercises

for NMDs, 643–644

T

TENS. See Transcutaneous nerve stimulation (TENS)

Timed function tests


Tone

assessment of


Toxic neuropathies

diagnostic evaluation of

arsenic polyneuropathy, 535

chemotherapeutic agents, 536

glue sniffing, 536

lead polyneuropathy, 535

mercury poisoning, 535

organophosphate poisoning, 535–536

Transcutaneous nerve stimulation (TENS)

for pain relief in NMDs, 644–645

U

Uniform demyelinating neuropathies


V

Vignos lower extremity functional grade


W

Weakness

disuse-related

in NMDs


overwork

in myopathies and NMDs


Werdnig-Hoffman disease


World Health Organization (WHO) International Classification of Functioning, Disability,

and Health

on NMDs, 479

X

X-linked spinobulbar muscular atrophy (SBMA)


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