Neudle.com: myopathy genetic

Differential
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abdominal distention

abdominal muscle paralysis

abdominal protrusion

abiotrophy

abscess, intracranial

acanthocytosis

acid maltase deficiency

acid maltase deficiency, adult

acoustic neurinoma

acoustic neurinoma, bilateral

acquired immunodeficiency syndrome

acromicria

acyl CoA dehydrogenase deficiency

Addison's disease

adducted thumb

adrenoleukodystrophy

adrenoleukodystrophy, adult onset

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

advances in neurology

adverse drug reaction

agammaglobulinemia

agenesis of corpus callosum

Aicardi-Goutieres syndrome

airway obstruction

alcohol

alcohol intoxication

alcohol, blood level of

alcohol, neurologic complications with

alcoholic blackout

alcoholic coma

alcoholic dementia

alcoholic polyneuropathy

alcoholic withdrawal states, DT's, convulsions, etc.

alveolar hypoventilation

Alzheimer's disease

Alzheimer's disease, diagnosis of

Alzheimer's disease, early onset

Alzheimer's disease, familial

Alzheimer's disease, preclinical

Alzheimer's disease, risk factors in

amyotrophic chorea-acanthocytosis

amyotrophic lateral sclerosis

amyotrophic lateral sclerosis, differential diagnosis

amyotrophic lateral sclerosis, epidemiology of

amyotrophic lateral sclerosis, familial

amyotrophic lateral sclerosis, guamian type of

amyotrophic lateral sclerosis, misdiagnosis

ANA

anesthesia, general

aneurysm

aneurysm, intracranial

anterior horn cell disease

anterior tibial muscle weakness

anterocollis

antibiotics

antibodies to voltage-gated calcium channels

anticonvulsants

anticonvulsants, absorption

anticonvulsants, bioavailability

anticonvulsants, blood level determination of

anticonvulsants, compliance

anticonvulsants, hypersensitivity syndrome

anticonvulsants, selection of

anticonvulsants, subtherapeutic

anticonvulsants, teratogenicity of

anticonvulsants, untoward effects of

arteriovenous malformation

arteriovenous malformation, pulmonary

arthralgia

arthritis

arthrogryposis multiplex

Asians

aspartate aminotransferase

ataxia telangiectasia

atrioventricular block

attention deficit disorder with hyperactivity

attention span

audiogram

auditory evoked brainstem potentials

autism

autism, screening for

autoimmune disease

automatic implantable cardioverter-defibrillator

autonomic dysfunction

basal ganglia, calcification of

basal ganglia, degeneration

basal ganglia, lesion of

basal ganglia, lesion, bilateral

basilar artery stenosis

Bassen-Kornzweig syndrome

behavior

behavior, combative

behavioral disorder

benign essential tremor

bone marrow transplantation

bone pain

bone scanning

botulinum toxin

bovine spongiform encephalopathy

bradycardia

brain atrophy

brain biopsy

brain biopsy, negative

brainstem, lesion of

brainstem, neoplasms of

calcification, intracranial

calcium channel dysfunction

carcinoma of pancreas

cardiac arrest

cardiomegaly

cardiomyopathy

cardiovascular disease

caribbean

carnitine deficiency

carnitine deficiency myopathy

CAT scan, disappearing lesion on

CAT scan, false negative

CAT scan, muscle

cataplexy

cataracts

cataracts, congenital

caudate nucleus

caudate nucleus, atrophy

Central America

central core disease

central nervous system, infection of

central nuclei, muscle

central pontine myelinolysis

cerebellar ataxia, children

cerebellar ataxia, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar hemangioma

cerebellum, neoplasms of

cerebral cortex

cerebral cortical atrophy

cerebral embolism

cerebral ischemia

cerebral palsy

cerebral palsy, etiology

cerebral palsy, work up

cerebro hepato renal syndrome

cerebrospinal fluid, abnormal

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, protein of

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, familial occurrence

cerebrovascular accident, infancy and childhood

cerebrovascular accident, mimics

cerebrovascular accident, multiple

cerebrovascular accident, nonvascular territory

cerebrovascular accident, recurrent

cerebrovascular accident, young adult

Charcot-Marie-Tooth

cherry red spot-myoclonus syndrome

chewing, impaired

children

chloride channel dysfunction

chromosomal abnormality

chronic progressive external ophthalmoplegia

Clinical Pathologic Conference(C.P.C.)

clubbing of fingers

clubfoot as related to neurologic disease

Coats syndrome

Cockayne's syndrome

coenzyme Q10 deficiency

cognition

collagen vascular disease

coma

complications

compression neuropathy

congenital birth defects

congenital heart disease

congenital heart disease, CNS complications with

congenital malformation

congenital myasthenic syndromes

congenital myopathy

congenital myopathy, inflammatory

congestive heart failure

corpus callosum, atrophy of

corpus callosum, lesion of

corpus callosum, thinning

cortical blindness

counselling

cranial neuropathy, multiple

creatine phosphokinase(CPK)elevated

creatinuria

Creutzfeldt-Jakob disease, genetic

cultured skin fibroblasts

cyclic vomiting

cyst

cyst, peritumoral

cyst, neoplastic cerebellum

cyst, parenchymal

cytochrome c oxidase

cytochrome c oxidase, deficiency

degenerative diseases of CNS

dementia, frontotemporal

dementia, presenile

dementia, rapidly progressive

dementia, transmissible

demyelinating disease

dentatorubral-pallidoluysian atrophy

depression

desmin

developmental abnormality of brain

developmental disability

developmental evaluation

developmental milestones, loss of

developmental retardation

diabetes mellitus

diagnostic criteria

diamond on quadriceps

diaphragmatic paralysis

diarrhea

diet

differential diagnosis

difficulty climbing stairs

digits, abnormal

dilantin

dilantin, hypersensitivity to

diplopia

dislocated hip, congenital

distal muscle atrophy

distal muscle weakness

diurnal variation

DNA probes

dopa responsive dystonia

drooling

dropped head syndrome

drug induced neurologic disorders

dwarfism

dysarthria

dysarthria-clumsy hand syndrome

dystonia musculorum deformens

dystonia musculorum deformens, carrier

dystonia, cervical

dystonia, etiology of

dystonia, painful

dystonia, post traumatic

dystonia, treatment of

dystroglycanopathies

dystrophin

dystrophin associated proteins

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome, classification

ejection fraction

ejection fraction, abnormal

electrocardiogram, abnormal

electroencephalogram, abnormalities of

electroencephalogram, periodic complexes

electromyogram

electron microscopy

electronystagmography

electroretinograph

embolism, paradoxical

embolism, septic

Emery-Dreifuss muscular dystrophy

emtricitabine

encephalomalacia

encephalopathy

encephalopathy, anoxic

encephalopathy, neonatal

encephalopathy, progressive

enzyme treatment

enzyme, defect

enzyme, induction

enzyme, muscle disease

enzyme, serum

epidemic

epidemiology of neurology

episodic disorders

episodic neurologic deficits

executive dysfunction

exercise

exercise intolerance

exercise-induced neurologic dysfunction

exome sequencing

extraocular muscle lesion

eye movement, disorders of

Fabry's disease

facial anomalies

facial appearance, abnormal

facial weakness

facial weakness, bilateral

facioscapulohumeral syndrome

familial hemiplegic migraine

family planning

fasciculation

fatigue

fatty acid, elevated plasma content

Fazio-Londe's disease

feeding disorder

fetal alcohol syndrome

fine motor function, impaired

fistula, arterio-venous, pulmonary

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

fragile-X syndrome, carrier

frataxin

Friedreich's ataxia

Friedreich's ataxia, late onset

frontal balding

fundus, abnormality of

gastrocnemius muscle weakness

gastrointestinal bleeding

gastrointestinal disease, neurologic complications

gastrointestinal motility

gastroparesis

Gaucher's disease

gaze palsy

gaze palsy, supranuclear

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

Gerstmann-Straussler-Scheinker disease

glaucoma

glucocerebrosidase

GLUT1

GLUT1 deficiency syndrome

glycogen storage disease

growth hormone deficiency

Guillain Barre syndrome

gynecomastia

gyrus, abnormal

Hallervorden Spatz disease

heart block, complete

heart murmur

heavy metal intoxication

hemangioblastoma

hematuria, gross

hemianopia, homonymous

hemidiaphragm, paralysis of

hemoptysis

hemorrhagic diathesis

hepatic encephalopathy

heralding manifestation

hereditary hemorrhagic telangiectasia(HHT)

hereditary myopathy with early respiratory failure

herpes simplex encephalitis

herpes simplex encephalitis, differential diagnosis of

histochemistry of muscle

HLA

hormone replacement

Huntington's chorea

Huntington's chorea, genetic counselling

Huntington's chorea, presymptomatic detection of

Hurler's syndrome

hydrocephalus

hydrocephalus, congenital

hydrocephalus, fetal

hydrocephalus, intrauterine

hypercapnia

hyperkalemia

hyperkalemic periodic paralysis

hyperphagia

hyperreflexia

hypersensitivity reaction

hypertelorism

hyperthyroidism

hypertrophic cardiomyopathy

hypokalemic periodic paralysis

hyponatremia

hypophonia

hypopigmentation of skin

hypoxic encephalopathy

iatrogenic neurologic disorders

immunology and the nervous system

immunosuppressive agents

impulsivity

inability to sit up

inability to stand on tiptoes

inattention

inborn errors of metabolism

inborn errors of metabolism, screening

inclusion bodies

inclusion bodies, eosinophilic cytoplasmic

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

inclusion body myositis

intellectual deterioration

interferonopathy

intestinal biopsy

intestinal pseudoobstruction

intracerebral hemorrhage

intracranial pressure, increased

intranasal medication

intrauterine

intrauterine infection

intrauterine infection, viral

intrinsic hand muscles, wasting of

irritability

ischemic exercise test

Jakob-Creutzfeldt disease

Jakob-Creutzfeldt disease, variant

jaundice

joint hypermobility

karyotyping

Kearns-Sayre syndrome

keratoconus

ketamine

Kugelberg-Welander syndrome

kyphoscoliosis, neurologic causes of

kyphosis

lactate

lactic acidemia

lactic dehydrogenase(LDH)

Lafora's disease

laminar necrosis, cortical

Laurence-Moon-Bardet-Biedl syndrome

L-dopa

Leber's hereditary optic neuropathy

leg spasms

leg spasms, painful

leg weakness, bilateral

leg weakness, unilateral

Leigh's disease

lens, dislocation of

leptospirosis

leukocyte enzyme abnormality

lid closure, weakness of

life expectancy

limb-girdle weakness

linear lesion

lipid storage disorder of CNS

lipid storage myopathy

Lisch nodules

lissencephaly

liver disease

liver function enzymes

lymphocyte capping, diminished

lysosomal storage disease

lysosomes, abnoral

macular degeneration

magnetoencephalography

malformation, CNS, congenital

malformation, vascular

malformation, vascular, cerebral

malignant hyperpyrexia

masked facies

McArdle's disease

McLeod syndrome

medical-legal aspects of neurology

MELAS syndrome

memory, impairment of

meningeal enhancement

meningitis

meningitis, basilar

meningitis, leptospira

meningoencephalitis

mental retardation

mental retardation, familial

metabolic disorder, primary

mexiletine

microcephaly

micrognathia

middle cerebellar peduncle

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

miglustat

migraine

Miller-Dieker syndrome

mimics

misdiagnosis

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

mitral valve prolapse

MNGIE syndrome

molecular genetics

molybdenum cofactor deficiency

movement disorder, extrapyramidal

MRI, contrast enhanced

MRI, diffusion tensor

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, fetal

MRI, functional

MRI, gyral enhancement

MRI, susceptibility weighted

MRI, T1 weighted high signal foci

MRS

mucopolysaccharidoses

multicore myopathy

multiminicore disease

multiple sclerosis, misdiagnosis

muscle atrophy, focal

muscle atrophy, progressive

muscle atrophy, static

muscle phosphorylase deficiency

muscle stiffness

muscle swelling

muscle tenderness

muscle wasting, diffuse

muscle weakness

muscle weakness, proximal

muscle weakness, sudden onset of

muscular dystrophy

muscular dystrophy, Becker

muscular dystrophy, Becker, carrier

muscular dystrophy, cardiovascular changes with

muscular dystrophy, central nervous system abnormality

muscular dystrophy, classification

muscular dystrophy, congenital

muscular dystrophy, congenital, Fukuyama type

muscular dystrophy, differential diagnosis of

muscular dystrophy, distal, Miyoshi

muscular dystrophy, Duchenne

muscular dystrophy, Duchenne, carrier

muscular dystrophy, Duchenne, neonatal screening

muscular dystrophy, Duchenne, presymptomatic detection

muscular dystrophy, dystrophin normal

muscular dystrophy, facioscapulohumeral

muscular dystrophy, female occurrence of

muscular dystrophy, limb-girdle

muscular dystrophy, lymphocyte capping, diminished

muscular dystrophy, neurogenic hypothesis of

muscular dystrophy, pattern of muscle involvement

muscular dystrophy, systemic membrane defect

myasthenia gravis

myasthenia gravis, congenital

myasthenia gravis, differential diagnosis

myasthenia gravis, distal weakness

myasthenia gravis, familial incidence of

myasthenia gravis, limb-girdle

myasthenia gravis, misdiagnosis of

myasthenia gravis, neuromuscular junction in

myasthenia gravis, receptor site in

myasthenia gravis, seronegative

myoclonus, stimulus sensitive

myopathy, centronuclear

myopathy, desmin

myopathy, distal

myopathy, distal Laing

myopathy, distal, vacuolar

myopathy, distal, Welander's

myopathy, drug-induced

myopathy, genetic

myopathy, hereditary

myopathy, inclusion body

myopathy, inclusion body with Paget's disease

myopathy, inclusion body, hereditary

myopathy, metabolic

myopathy, mitochondrial

myopathy, myofibrillar

myopathy, necrotizing

myotonia dystrophica, classification

myotonia dystrophica, type 2

nemaline rod myopathy

nemaline rod myopathy, adult onset

neonatal screening, genetic neurologic disorders

neoplasm, metastatic to CNS

neoplasm, primary intracranial

neoplasm, primary of CNS

neoplasm, primary of CNS-surgical treatment of

nephritis

nerve conduction studies

neurofibrillary degeneration

neurofibromatosis 1

neurofibromatosis 2

neurofibromatosis 2, presymptomatic

neurogenic vs.myopathic atrophy

neurologic complications of, surgery

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease

neurologic disease, diagnoses of

neurologic evaluation

neurologic examination

neurologic examination, focal

neurologic practice

neurologic signs

neuromuscular blockade

neuromuscular disease, electrodiagnosis of

neuromuscular junction

neuromuscular junction, abnormality of

neuronal ceroid-lipofuscinosis

neuronal migration disorder

neuropathy, ataxia, retinitis pigmentosa

neuropathy, hereditary peripheral

neuropathy, hypertrophic

neuropathy, peripheral

neurosis

newborn, evaluation of

next-generation sequencing

obsessive-compulsive disorder

obstetric neurologic injuries

occipital lobe, lesion of

ocular motility, disorders of

ocular myopathy

oculopharyngeal muscular dystrophy

old age, neurology of

opened mouth

ophthalmoplegia

ophthalmoplegia, progressive external

optic atrophy

optic atrophy, hereditary

optic disc edema

optic nerve

optic nerve, compression of

optic neuropathy

optic neuropathy, bilateral

optic neuropathy, hereditary

oral contraceptives

organomegaly

orthopnea

pacemaker, cardiac-transvenous

paralysis, acute areflexic

paralysis, asymmetric

paramyotonia congenita

paraparesis

paraparesis, familial spastic

paraparesis, spastic

paraspinal muscle

paraspinal muscle weakness

Parkinson disease

Parkinsonism syndrome

paroxysmal exertion-induced dyskinesia

paroxysmal neurologic deficits

PAS positive

patient in waiting

patient information and support

pectus excavatum

percussion induced muscle contraction

periodic paralysis

periodic paralysis, thyrotoxic

peripheral blood smear

phosphorylase b kinase deficiency

photophobia

pigmentary retinopathy

pituitary, hormones of

pleocytosis of cerebrospinal fluid

pleural effusion

pneumonia

poison, mercury

poison, neurologic problems with

polymerase chain reaction

polymerase chain reaction, false negative

polymerase chain reaction, false positive

polymicrogyria

polymyositis

polyneuropathy

polyneuropathy, chronic inflammatory demyelinating

polyneuropathy, familial

Pompe's disease of glycogen storage

Pompe's disease, infantile

potassium channel antibodies

potassium channel dysfunction

practice guidelines

Prader-Labhart-Willi syndrome

precipitating factors

preclinical

pregnancy, anticonvulsants during

pregnancy, neurologic complications in

prenatal

prenatal diagnosis by amniocentesis

presenilin-1 gene

presenilin-2 gene

prevention of neurologic disorders

prion disease

progeria

prognosis

progressive infantile poliodystrophy

progressive myoclonic epilepsy

progressive neurologic disorder

prostigmine

protein 14-3-3, cerebrospinal fluid

proteinuria

proximal muscle atrophy

proximal myotonic myopathy

pseudohypertrophy

pseudomyasthenia

pseudomyotonia

pseudoretinitis pigmentosa

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychological testing, neurologic problems

psychomotor retardation

pulmonary hypertension

quadriparesis, progressive

quadriplegia, transient

quality of life

radiation therapy, CNS treatment and complications with

radiation therapy, stereotactic

radiculopathy

ragged-red fibers

rapidly progressing neurologic illness

rash

real-time quaking-induced conversion

repetitive nerve stimulation

research

respirator

respiratory depression

respiratory failure

respiratory tract infection

reversible neurologic disorder

review article

RFLPs

rhabdomyolysis

rhabdomyosarcoma of heart

riboflavin

rigid spine syndrome

rigidity

rippling muscle disease

risk factors

Romberg's sign

saccadic eye movements, abnormal

scoliosis, neurologic association with

screaming

screening

second wind phenomena

seizure

seizure, children

seizure, familial

seizure, injury following

seizure, intractable

seizure, laughing as manifestation

seizure, treatment of

seizure, treatment of, monotherapy

seizure, women

self-mutilation

sensorineural hearing loss

seronegative

serum alanine aminotransferase

single photon emission computed tomography

skin, biopsy

skin, darkening of

skin, hyperextensible

skin, lesions in neurologic disorders

skin, thin

skin, translucent

skull x-ray, abnormal

slit lamp examination

sloped shoulders

SMN1 gene

socialisation

sodium channel dysfunction

sore throat

South America

Southern immunoblot test

spasticity

speech disorder

speech, delayed development of

sphingolipodoses

Spielmeyer Vogt syndrome

spinal cord, neoplasm

spinal cord, vascular malformation of

spinal muscular atrophy

spinal muscular atrophy, adult onset

spinal muscular atrophy, classification

spinal muscular atrophy, intermediate form

spinocerebellar ataxia

spinocerebellar ataxia type 2

spinocerebellar ataxia type 6

spinocerebellar degeneration

spirochete infection

splenomegaly

spongy degeneration of brain

spontaneous remission

stereotyped behavior, drug induced

steroid

steroid therapy, CNS treatment and complications with

stooped posture

storage disease of CNS

strabismus

striatum, lesion of

striatum, lesion of, bilateral

strokelike episodes

subarachnoid hemorrhage

subependymal nodules

succinate dehydrogenase deficiency

suck, poor

sudden death

survival motor neuron gene

symmetric brain lesions

syncope

systemic illness

systemic lupus erythematosus

tandem gait, ataxic

tapetoretinal degeneration

Tay-Sachs disease

telangiectases

telangiectases, retinal

temper tantrums

temporal lobe, lesion

temporal lobe, lesion, bilateral

temporalis muscle wasting

temporalis muscle weakness

temporomandibular joint, dislocation

term infant

testicular atrophy

testicular enlargement

thalamus, lesion of-bilateral

thiamine

thrombocytopenia

thymoma

thyroid function tests

thyrotoxicosis

tic

tinnitus

tissue plasminogen activator, intravenous

tongue, fasciculations of

tongue, protrusion of

tongue, weakness

torticollis

torticollis, post traumatic

transient neurologic deficit

transverse smile

trauma

travel, foreign

treatment of neurologic disorder

trinucleotide repeats

tuberin

tuberous sclerosis

tuberous sclerosis, screening for

twins

type 1 muscle fiber

ultrasonography

ultrasonography, head

ultrasonography, head, fetus-neonate

undiagnosed

Unverricht-Lundborg disease

very long chain fatty acids

vision, failure of in childhood

visual acuity, decreased

visual evoked response

visual field defect

visual fields, constricted

visual impairment

visual loss

visual loss, progressive

vital capacity

vitamin K

vitamin supplementation

vomiting, recurrent

Von Hippel Lindau

walking frame

walking, difficulty with

weakness, fluctuating

weakness, focal

weakness, generalized

weakness, progressive

weakness, proximal

weakness, rapidly progressive

weaning from respirator, failure to

web sites

weight loss

Werdnig-Hoffman disease

Wernicke's encephalopathy

Western immunoblot test

wheelchair

Whipple's disease

white matter disease

white matter disease, pattern

whole genome sequencing

X-linked bulbospinal neuronopathy

x-linked hydrocephalus

x-linked mental retardation

X-linked myopathy

x-linked myopathy with excessive autophagy

Zika virus infection

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The Association of Chronic Hepatitis B and Myopathy
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Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Frequently Missed Diagnosis?
Neurol 67:1519, Koppel,S.,et al, 2006

Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006

Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006

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