Progressive Ophthalmoplegia: Causes & Reasons

Possible Causes for Progressive Ophthalmoplegia

Background Chronic progressive external ophthalmoplegia (CPEO), also known as progressive external ophthalmoplegia (PEO), is a disorder characterized by slowly progressive [emedicine.medscape.com]

Pigment changes of the retina in chronic progressive external ophthalmoplegia (CPEO). Acta. Ophthalmol. 56: Suppl. 138: 5–36 (1978). [link.springer.com]

Pharyngeal transit in patients with chronic progressive external ophthalmoplegia. Int J Speech Lang Pathol. 2015 Aug. 17 (4):384-9. [Medline]. [emedicine.medscape.com]

Kearns-Sayre Syndrome

Progression of the disease eventually leads to complete ophthalmoplegia without any eye movements (“staring eyes”). [neurocular.com]

Kearns Sayre syndrome belongs to a group of mitochondrial DNA deletion syndromes, together with pearson syndrome and progressive external ophthalmoplegia (PEO). [symptoma.com]

Chronic Progressive External/complications* Ophthalmoplegia, Chronic Progressive External/physiopathology Otoacoustic Emissions, Spontaneous/physiology Prevalence Substance [ncbi.nlm.nih.gov]

Oculo-Pharyngo-Distal Myopathy

Tentative Clinical-Genetic Classification of Progressive External Ophthalmoplegia I. Childhood-onset A. [medlink.com]

Top matches: Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 Progressive external ophthalmoplegia is characterized [mendelian.co]

Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that [ncbi.nlm.nih.gov]

Chronic Progressive External Ophthalmoplegia

CPEO stands for "Chronic Progressive External Ophthalmoplegia" How to abbreviate Chronic Progressive External Ophthalmoplegia? [allacronyms.com]

[…] external ophthalmoplegia PEO chronic progressive external ophthalmoplegia [Ambiguous] progressive external ophthalmoplegia (disorder) chronic progressive external ophthalmoplegia [wikidata.org]

progressive external ophthalmoplegia. ( 28535487 ) Gueguen A....Bostock H. 2017 19 Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type [malacards.org]

Autosomal Dominant Progressive External Ophthalmoplegia Type 6

Tentative Clinical-Genetic Classification of Progressive External Ophthalmoplegia I. Childhood-onset A. [medlink.com]

Progressive external ophthalmoplegia itself is not a life-threatening condition. [medical-dictionary.thefreedictionary.com]

[…] based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6, is also known as progressive external ophthalmoplegia with mitochondrial [malacards.org]

Mitochondrial DNA Depletion Syndrome

Abstract Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. [doi.org]

Lethal Infantile Mitochondrial Myopathy

[…] external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), [ncbi.nlm.nih.gov]

[…] external ophthalmoplegia, with mtDNA deletions, autosomal dominant 1 (POLG) Progressive external ophthalmoplegia, with mtDNA deletions, autosomal recessive (POLG) Alpers [meduniwien.ac.at]

[…] individuals with a mutation of mtDNA display a cluster of clinical features that fall into a discrete clinical syndrome, such as the Kearns-Sayre syndrome (KSS), chronic progressive [ncbi.nlm.nih.gov]

Mitochondrial Myopathy

Cardiac conduction defects Sensorineural hearing loss Chronic progressive external ophthalmoplegia (CPEO) Progressive ophthalmoparesis Symptomatic overlap with other mitochondrial [en.wikipedia.org]

[…] external ophthalmoplegia. [ncbi.nlm.nih.gov]

[Atypical manifestation of progressive external ophthalmoplegia]. Klin Monatsbl Augenheilkd. 1996 May;208(5):366-7. 12. [neuroophthalmology.ca]

Alpers Syndrome

[…] external ophthalmoplegia plus, and autosomal dominant progressive ophthalmoplegia plus. [10] Toxicity and Side Effect Management Valproic acid is appropriate in the management [statpearls.com]

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Hum Mutat. 2003; 22 (2): 175-176. [medigraphic.com]

[…] external ophthalmoplegia plus Autosomal dominant progressive ophthalmoplegia plus.[10] Toxicity and Side Effect Management Valproic acid is appropriate in the management [ncbi.nlm.nih.gov]

Ophthalmoplegia

[…] in chronic progressive external ophthalmoplegia". ( 28838816 ) Gu? [malacards.org]

The prevalence of progressive external ophthalmoplegia is unknown. [ghr.nlm.nih.gov]

Tentative Clinical-Genetic Classification of Progressive External Ophthalmoplegia I. Childhood-onset A. [medlink.com]

Mitochondrial Neurogastrointestinal Encephalomyopathy

Neurological involvement includes chronic progressive ophthalmoplegia with or without ptosis, and sensorimotor peripheral neuropathy. [orpha.net]

Progressive external ophthalmoplegia is characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. [mybiosource.com]

[…] external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome AD/AR 89 290 POLG2 Progressive external ophthalmoplegia with mitochondrial [blueprintgenetics.com]

Familial Congenital Palsy of Trochlear Nerve

External Ophthalmoplegia Myasthenia Gravis Tensilon Test Bilateral Nuclear Third Nerve Palsy Progressive External Ophthalmoplegia Myasthenia Gravis Guillain Barre Syndrome [repository.countway.harvard.edu]

A subset of sporadic and familial congenital, non-progressive ophthalmoplegia with restriction of globe movement was initially referred to as the “congenital fibrosis syndromes [yumpu.com]

[…] external ophthalmoplegia Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Moebius syndrome Morning glory syndrome Multifocal pattern dystrophy simulating fundus [se-atlas.de]

Hereditary Myopathy with Lactic Acidosis due to ISCU Deficiency

[…] external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis POLG2 Progressive external ophthalmoplegia with mitochondrial [genda.com.ar]

[…] encephalomyopathy/LS/optic atrophy [ 27 ] m.4171C>A MT – ND1 LHON [ 27 ] m.4298G>A MT – TI Chronic progressive external ophthalmoplegia/multiple sclerosis [ 27 ] m.4300A> [basicmedicalkey.com]

Blepharoptosis

Chronic progressive external ophthalmoplegia (CPEO) is a neuromyopathic disorder characterized by progressive weakness of the extraocular and levator muscles, which causes [ncbi.nlm.nih.gov]

Abstract The article discusses diagnostic algorithms for blepharoptosis in patients with Horner's syndrome, myasthenia, chronic progressive ophthalmoplegia, myotonic dystrophy [ncbi.nlm.nih.gov]

The ptosis is caused by a glycogenosis type II (Pompe disease) in the first case and is due to a juvenile, chronic progressive external ophthalmoplegia (Kearns-Sayre syndrome [ncbi.nlm.nih.gov]

Proximal Myopathy with Extrapyramidal Signs

Whereas progressive external ophthalmoplegia often has been accompanied by other nervous system signs, true myasthenia gravis only rarely has been so associated and never [neurology.org]

Symbol Name Synonyms Organism C10orf2 chromosome 10 open reading frame 2 ATXN8, FLJ21832, IOSCA, MTDPS7, PEO, PEO1, PEOA3, Progressive external ophthalmoplegia 1 protein, [ihop-net.org]

Special issues in children Progressive external ophthalmoplegia (PEO), and drooping of the upper eyelids, called ptosis, typically cause only mild visual impairment in adults [mda.org]

Horizontal Gaze Palsy with Progressive Scoliosis

Chronic Progressive External/complications* Ophthalmoplegia, Chronic Progressive External/diagnosis Ophthalmoplegia, Chronic Progressive External/genetics Receptors, Immunologic [ncbi.nlm.nih.gov]

Title Other Names: Progressive external ophthalmoplegia and scoliosis; HGPPS; Gaze palsy, horizontal, with progressive scoliosis ; Progressive external ophthalmoplegia and [rarediseases.info.nih.gov]

Chronic Progressive External/genetics Ophthalmoplegia, Chronic Progressive External/pathology Paresis/etiology* Putaminal Hemorrhage/complications* Pyramidal Tracts/pathology [ncbi.nlm.nih.gov]

Progressive external ophthalmoplegia (PEO) is a mitochondrial myopathy with progressive muscle weakness and external ophthalmoplegia. [em-consulte.com]

External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 4 Propionic Acidemia Pulmonary Hypertension, Primary, 4 Refsum Disease Rett Syndrome Rheumatic [familydiagnosis.com]

Bickerstaff Brainstem Encephalitis

ophthalmoplegia, ataxia and disturbance of consciousness (or hyper-reflexia). [scholarbank.nus.edu.sg]

dysarthria, dysphagia, and facial weakness; progressive motor weakness; altered mental status; and ataxia. [kjp.or.kr]

Key clinical findings: (1) progressive symmetrical external ophthalmoplegia (2) ataxia (3) disturbance of consciousness (drowsiness, stupor or coma) Additional findings may [meducator3.net]

Autosomal Dominant Myoglobinuria

We report a 57-year-old man with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions who developed acute rhabdomyolysis provoked by alcohol [neurology.org]

Painful Ophthalmoplegia

[…] external ophthalmoplegia Bilateral progressive external ophthalmoplegia L progressive external ophthalmoplegia Left progressive external ophthalmoplegia Progressive external [icd9data.com]

Progressive external ophthalmoplegia itself is not a life-threatening condition. [medical-dictionary.thefreedictionary.com]

Lethal Ataxia with Deafness and Optic Atrophy

[…] external ophthalmoplegia • pigmentary retinopathy • complete heart block Plus… • CSF protein > 100 mg/dl • cerebellar ataxia Spectrum of Disease • progressive external ophthalmoplegia [emilytam.com]

[…] and Ophthalmoplegia (CIPO), Maternally inherited Deafness, aminoglycoside-induced Deafness, Progressive encephalopathy (PEM), SensoriNeural Hearing Loss (SNHL), Encephalomyopathy [brevets-patents.ic.gc.ca]

Prolapse

These include myasthenia gravis, progressive external ophthalmoplegia, Horner syndrome, and third cranial nerve palsy. [aapos.org]

Differential diagnosis Differential diagnosis of congenital ptosis Chronic progressive external ophthalmoplegia (a disorder characterised by slowly progressive paralysis of [patient.info]

ECG, EMG, mitochondrial studies and electroretinogram may be needed to exclude chronic progressive external ophthalmoplegia. [patient.info]

Infantile-Onset Autosomal Recessive Non-Progressive Cerebellar Ataxia

Mutations in the C10ORF2 gene affecting the Twinkle protein may be responsible for an autosomal dominant progressive ophthalmoplegia ( 609286 ) in which ptosis and cataracts [disorders.eyes.arizona.edu]

[…] external ophthalmoplegia with mitochondrial deletions autosomal recessive Progressive external ophthalmoplegia with mitochondrial deletions Progressive myoclonus epilepsy [qlinics.com]

[…] external ophthalmoplegia 1 t7 gene 4-like protein with intramitochondrial nucleoid localization twinkle TWNK C10ORF2 FLJ21832 IOSCA PEO TWINKLE TWINL 606075 1160 vesicle [ukgtn.nhs.uk]

Mitochondrial Complex 3 Deficiency Nuclear Type 1

[…] epilepsy-intellectual disability syndrome, Finnish type Progressive external ophthalmoplegia-myopathy-emaciation syndrome Progressive myoclonic epilepsy type 3 Proximal tubulopathy-diabetes [se-atlas.de]

CO: cytochrome c oxidase (control: 152.1 + 39.7, n = 161, CPEO: chronic progressive external ophthalmoplegia, KSS: Kearns Sayre syndrome. F: female. [docslide.com.br]

[…] cone dystrophy 0 Progressive external ophthalmoplegia 0 Prostate cancer, familial 0 Pseudohypoaldosteronism, type 1 0 Pyruvate dehydrogenase deficiency 0 Refsum disease, [research.cchmc.org]

Congenital Fibrosis of Extraocular Muscles

A 5-year-old boy presented with acute right eye pain and swelling, which progressed to ophthalmoplegia. [ajnr.org]

CFEOM is characterized by non-progressive, restrictive ophthalmoplegia of the extraocular muscles and congenital blepharoptosis. [genome.jp]

Clinical Presentation: Symptoms relapse and remit with time and include gnawing pain behind the affected eye, typically unilateral, that progresses to ophthalmoplegia and [ajnr.org]

MERRF Syndrome

[…] atrophy or progressive external ophthalmoplegia and hearing loss. [symptoma.com]

Disorders evaluated in Mayo's Mitochondrial Disease Clinic include, among others: Alpers progressive sclerosing poliodystrophy (Alpers disease) Barth syndrome Chronic progressive [mayoclinic.org]

"Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA". [mitomap.org]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

[…] dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-1 (PEOA1), PEO+ demyelinating neuropathy, PEO + hypogonadism, autosomal dominant progressive [brevets-patents.ic.gc.ca]

"Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA". [mitomap.org]

External Ophthalmoplegia (CPEO) AD-CPEO: Sporadic multiple mtDNA deletions: One deletion affects the heavy strand promoter – HSP region Chromosome 3p Clinical features: Progressive [neurodiffdx.com]

Mitochondrial Disease

Four unrelated patients presented with a severe sensory ataxic neuropathy in association with dysarthria and chronic progressive external ophthalmoplegia. [ncbi.nlm.nih.gov]

[…] external ophthalmoplegia. [ncbi.nlm.nih.gov]

The oculoskeletal symptoms of the present cases resemble those of chronic progressive external ophthalmoplegia, a type of mitochondrial disease. [ncbi.nlm.nih.gov]

Juvenile Paralysis Agitans of Hunt

[…] supranuclear ophthalmoplegia Progressive supranuclear palsy Progressive supranuclear palsy; ophthalmoplegia Shy Drager syndrome Shy-Drager syndrome Sporadic olivopontocerebellar [icd9data.com]

Convert to ICD-10-CM : 333.0 converts approximately to: 2015/16 ICD-10-CM G23.0 Hallervorden-Spatz disease Or: 2015/16 ICD-10-CM G23.1 Progressive supranuclear ophthalmoplegia [icd9data.com]

GEMS): ICD-10-CM Code: G23.0 - Hallervorden-Spatz disease (approximate) ICD-10-CM Code: G23.1 - Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] (approximate [emedcodes.com]

Prata-Libéral-Gonçalves Syndrome

[…] acromelanosis Progressive black carbon hyperpigmentation of infancy Progressive diaphyseal dysplasia Progressive external ophthalmoplegia Progressive hearing loss stapes [mindmappedia.com]

Progeria variant syndrome Ruvalcaba type Progeria Progeroid syndrome De Barsy type Progeroid syndrome Petty type Progeroid syndrome, Penttinen type Prognathism dominant Progressive [bioreference.net]

Progressive acromelanosis[?] Progressive black carbon hyperpigmentation of infancy[?] Progressive diaphyseal dysplasia[?] Progressive external ophthalmoplegia[?] [encyclopedia.kids.net.au]