Neudle.com: "muscular dystrophy ocular"

Differential
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abdominal distention

abducens nerve paralysis, bilateral

abiotrophy

acanthocytosis

advances in neurology

agammaglobulinemia

akinesia of eyelid function

ANA

apraxia of eyelid opening

aqueduct of Sylvius, stenosis

auditory evoked brainstem potentials

basal ganglia, calcification of

Bassen-Kornzweig syndrome

brainstem, tuberculoma of

cachexia

calcification, intracranial

CAT scan, false negative

cataracts

cataracts, congenital

cause of death

celiac disease, childhood

central core disease

cerebellar ataxia, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar hypoplasia

cerebral cortical atrophy

cerebrospinal fluid, lactic acid concentration

cerebrovascular accident

cerebrovascular accident, multiple

cerebrovascular accident, young adult

Charcot's sign

chemosis

children

chromosomal abnormality

chromosome 14

chronic progressive external ophthalmoplegia

Clinical Pathologic Conference(C.P.C.)

Cockayne's syndrome

cogwheel rigidty

collagen vascular disease

coma

congenital myopathy

conjunctival injection

cranial neuropathy, multiple

creatine phosphokinase isoenzyme elevation

creatine phosphokinase MB isoenzyme elevation

creatine phosphokinase(CPK)elevated

cricopharyngeal bar

cytochrome c oxidase

cytochrome c oxidase, deficiency

digitalis intoxication

diplopia

distal muscle weakness

dysthyroid ocularmyopathy

dystonia

dystrophin

edema, periorbital

electroencephalogram, abnormalities of

electromyogram

electronystagmography

electronystagmography, abnormal

electroretinograph

encephalocele

encephalopathy

encephalopathy, progressive

enzyme, muscle disease

epidemiology of neurology

evoked potentials

exercise intolerance

extraocular muscle atrophy

extraocular muscle enlargement

extraocular muscle lesion

extrapyramidal movement disorder, progressive

eye closure

eye movement, disorders of

eye, pain in

face, numbness of

facial nerve palsy

facial nerve palsy, bilateral

facial nerve, lesion of

facial weakness

facial weakness, bilateral

facioscapulohumeral syndrome

fistula, arterio-venous, carotid-cavernous

Friedreich's ataxia

gait disorder

gargoylism

gastrointestinal disease, neurologic complications

gastrointestinal motility

gastroparesis

gaze palsy

gaze palsy, horizontal

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

glabellar sign

glaucoma

Graves ophthalmopathy

hemianopia, homonymous

hepatic failure

hepatomegaly

heralding manifestation

hippus

Hispanics

histochemistry of muscle

Hurler's syndrome

hydrocephalus

hydrocephalus, congenital

immunosuppressive agents

inclusion bodies, intracytopasmic

inclusion bodies, intranuclear

intestinal pseudoobstruction

jaw jerk, abnormal

joint hypermobility

Kearns-Sayre syndrome

keratoconus

lactic acidemia

Laurence-Moon-Bardet-Biedl syndrome

L-dopa

Leber's hereditary optic neuropathy

Leigh's disease

leukodystrophy

leukoencephalopathy

lid closure, weakness of

lissencephaly

malformation, CNS, congenital

masked facies

medial rectus palsy

medulla oblongata, lesion of

MELAS syndrome

Melkersson's syndrome

mitochondrial disease

mitochondrial disease, pathogenesis

mitochondrial encephalomyopathy

mucopolysaccharidoses

muscle atrophy, progressive

muscle biopsy

muscle biopsy, extraocular

muscle pain

muscle weakness

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, central nervous system abnormality

muscular dystrophy, classification

muscular dystrophy, congenital

muscular dystrophy, congenital, Fukuyama type

muscular dystrophy, congenital, Ullrich

muscular dystrophy, differential diagnosis of

muscular dystrophy, Duchenne

muscular dystrophy, facioscapulohumeral

muscular dystrophy, limb-girdle

myasthenia gravis

myasthenia gravis, differential diagnosis

myasthenia gravis, distal weakness

myasthenia gravis, limb-girdle

myasthenia gravis, misdiagnosis of

myasthenia gravis, ocular

myasthenia gravis, seronegative

myopathy, centronuclear

myopathy, distal

myopathy, mitochondrial

myopathy, steroid induced

nemaline rod myopathy

neuritis

neuroendocrinology

neurologic complications of, systemic cancer

neurologic complications of, systemic disease

neurologic disease, diagnoses of

neurologic signs

neurologic symptoms

neuromuscular blockade

neuromuscular junction, abnormality of

neuroophthalmology

neuropathology

neuropathology, brain

neuropathy

neuropathy, peripheral

obicularis oculi, weakness of

occipital lobe, lesion of

ocular motility, disorders of

ocular myopathy

ocular myopathy, differential diagnosis

oculopharyngeal muscular dystrophy

oculovestibular reflex

one and a half syndrome

ophthalmoplegia

ophthalmoplegia, painful

ophthalmoplegia, plus syndrome

ophthalmoplegia, progressive external

orbicularis oculi muscle

Parkinsonism syndrome

photophobia

photophobia, central

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

POLG1 gene

polydactyly

polymerase chain reaction

progressive infantile poliodystrophy

progressive neurologic disorder

progressive supranuclear palsy

proptosis

proptosis, bilateral

proptosis, unilateral

prostigmine

pseudobulbar palsy

pseudomyasthenia

pseudoretinitis pigmentosa

psychiatric disorder

psychiatric problems in neurologic disorders

psychomotor retardation

pulmonary infiltrates

pupil, abnormality in neurologic disorders

pupil, dilated and fixed, bilateral

pupil, dilated and fixed, unilateral

saccadic eye movements

saccadic eye movements, abnormal

schizophrenia

scintillations

scleroderma

scleroderma, neurologic involvement with

screening

sedimentation rate

seizure

sensorineural hearing loss

seronegative

short stature

skin, tight

Southern immunoblot test

spasticity

Spielmeyer Vogt syndrome

standing difficulty

Stephens syndrome

steroid therapy, CNS treatment and complications with

strokelike episodes

symmetric brain lesions

systemic illness

tongue, fasciculations of

treatment of neurologic disorder

trinucleotide repeats

tuberculoma of CNS

tuberculosis

tuberculosis, miliary

visual fields, constricted

visual loss

Walker-Warburg syndrome

weakness

weakness, fatiguable

weakness, generalized

weakness, progressive

weakness, proximal

weaning from respirator, failure to

Showing articles 0 to 50 of 1759 Next >>

Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
Neurol 95:933-938, Paul,P.,et al, 2020

A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

Congenital Muscular Dystrophy
eMedicine (Jan), Lopate,G., 2007

Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006

Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006

Brain Magnetic Resonance Imaging Findings in Patients with Mitochondrial Cytopathies
Arch Neurol 62:737-742, Barragan-Campos,H.M.,et al, 2005

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
JAMA 286:2437-2440, Becher,M.W.,et al, 2001

GCG Genetic Expansions in Italian Patients with Oculopharyngeal Muscular Dystrophy
Neurol 54:608-614, Mirabella,M.,et al, 2000

Age and Cause of Death in Mitochondrial Diseases
Neurol 53:855-857, Klopstock,T.,et al, 1999

MR of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia
AJNR 19:95-99, Carlow,T.J.,et al, 1998

The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998

Confirmation of Linkage of Oculopharyngeal Muscular Dystrophy to Chromosome 14q11. 2-q13
Ann Neurol 40:801-804, Stajich,J.M.,et al, 1996

Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340, LeForestier,N.,et al, 1995

Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995

Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340995., Forestier,N.L.,et al, 1995

Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994

Ophthalmologic Manifestations in MELAS Syndrome
Arch Neurol 50:977-980, Fang,W.,et al, 1993

Neuropathic Findings in Oculopharyngeal Muscular Dystrophy, Seven Cases & Review of Literature
Arch Neurol 50:481-488, Hardiman,O.,et al, 1993

Oculomotor, Auditory, and Vestib ular Responses in Myotonic Dystrophy
Arch Neurol 49:954-960, Verhagen,W.I.M.,et al, 1992

Graves Orbitopathy:Correlation of CT and Clinical Findings
Radiology 177:675-682, Nugent,R.A.,et al, 1990

Clinicopath Conf
Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction:POLIP Syndrome
Ann Neurol 28:349-360, Simon,L.T.,et al, 1990

Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
NEJM 320:1293-1299, Moraes,C.T.,et al, 1989

Abnormalities of Eyelid Closure
In Walsh & Hoyt's Clinical Neuro-ophthalmology, Williams & Wilkins, Baltimore, 2:967, Miller,M.R., 1985

Clin. Path. Conference
External Ophthalmoplegia with Mitochondrial Myopathy, Case Record 3-1985, NEJM 312:171-177985., , 1985

Graves'Disease Presenting with Bilateral Acute Painful Proptosis, Ptosis, Ophthalmoplegia, & Visual Loss
Lancet 2:431-433, Leonard,T.J.K.,et al, 1984

Congenital Hydrocephalus & Eye Abnormalities with Severe Developmental Brain Defects:Warburg's Syndrome
Ann Neurol 16:60-65, Bordarier,C.,et al, 1984

Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
Neurol 34:1531-1541, Williams,R.S.,et al, 1984

Isolated Ocular Myopathy & Celiac Disease in Childhood
Neurol 33:792, Sandyk,R.,et al, 1983

Chronic Progressive External Ophthalmoplegia (CPEO) :Clinical, Morphologic, & Biochemical Studies
Neurol 33:452-461, Mitsumoto,H.,et al, 1983

External Carotid-Cavernous Sinus Fistula Simulating Unilateral Graves Ophthalmopathy
J Comput Assist Tomogr 6:1006-1009, Merlis,A.L.,et al, 1982

Creatine Phosphokinase MB Band In Oculopharyngeal Muscular Dystrophy
(Letter) NEJM 301:270979., Diskin,C.J., 1979

Extraocular Muscle Biopsy in Chronic Progressive External Ophthalmoplegia
Ann Neurol 6:326-339, Ringel,S.P.,et al, 1979

Progressive Supranuclear Palsy-Case Study
NEJM 293:346, Richardson,E.P., 1975

Polymyositis & Dermatomyositis
NEJM 292:344, 1975, 292:403975., Bohan,A.,et al, 1975

Case Records of MGH-NEJM 289:366
1973 Tuberculoma of Cerebral hemisphere & Brain Stem., , 1973

The Facioscapulohumeral Synd, in Clinical Studies in Myology, Amsterdam, Excerpta Medica
p498-501, VanWijngaarden,G.K.&Bethlem,J., 1973

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972

Ophthalmoplegia In Myotonic Dystrophy
Am J Ophthalmol 71:1231-1235, Lessell,S.,et al, 1971

Chronic Progressive External Ophthalmoplegia
Arch Ophthalmol 82:845, Daroff,R., 1969

Ocular Myopathy
Arch Neurol 20:1, Magora,A.,et al, 1969

Progressive Ophthalmoplegia
Arch Neurol 19:362, Rosenberg,R.,et al, 1968

The Oculopharyngeal Syndrome
JAMA 203:1003, Murphy,S.F.,et al, 1968

Some Neuro-ophthalmological Observations
JNNP 30:383, Fisher,C.M., 1967

Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023

A Woman with Progressive Painless Sequential Monocular Vision Loss
Neurol 101:e2197-e2201, Ditrapani,J.,et al, 2023

Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022

Showing articles 0 to 50 of 1759 Next >>