The clinical presentation and onset of symptoms is very varied and largely depends on the phenotype that is expressed, which are summarized below. [radiopaedia.org]

Acronym PEOB3 Synonyms Progressive external ophthalmoplegia, autosomal recessive 3 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs. [books.google.de]

• Epilepsy

  Myoclonic epilepsy myopathy sensory ataxia As its name described, MEMSA is characterized by myoclonic epilepsy, myopathy, and ataxia. Of note, and unlike autosomal dominant PEO, these patients have no ophthalmoplegia 2,3,5. [radiopaedia.org]

  Extensively updated to reflect advancements in the field, this fifth edition covers new imaging modalities such as pediatric neuroimaging, spinal fluid examination, neurophysiology, as well as the treatment and management of epilepsy, ADHD, infections [books.google.de]

  myopathy, sensory ataxia (MEMSA), includes spinocerebellar ataxia with epilepsy (SCAE), with or without progressive external ophthalmoplegia • POLG -related ataxia neuropathy spectrum disorders (ANS), includes mitochondrial recessive ataxia syndrome [medlink.com]

  • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) – Autosomal recessive CPEO in association with peripheral neuropathy, leukoencephalopathy and gastrointestinal symptoms (nausea, vomiting, diarrhea) • Myelonic epilepsy with ragged-red [entokey.com]

• Fatigue

  These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies. [books.google.com]

  […] weakness Ophthalmoparesis Elevated serum creatine phosphokinase Dysarthria Rare Symptoms - Less than 30% cases Increased serum lactate Slow progression Proximal muscle weakness Mitochondrial myopathy Gowers sign Myalgia Multiple mitochondrial DNA deletions Fatigue [mendelian.co]

  Fatigue, pain, and depression may be more common in patients with PEO than in a comparable group with myotonic muscular dystrophy ( Smits et al 2011a ). Respiration may be impeded ( Smits et al 2011b ). [medlink.com]

  These disorders may result in short stature, a delay in reaching puberty, excessive fatigue, and/or muscle cramps. The relationship between KSS and endocrine abnormalities is not fully understood. [rarediseases.org]

  At 49 years of age, dyspnoea during exercise, fatigue, peripheral oedema, nocturia, and palpitations developed. [jnnp.bmj.com]

• Asymptomatic

  Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members. Arch Ophthalmol. 2008 Mar;126(3):320-8. 55. Adjadj E, Mansouri K, Borruat FX. [neuroophthalmology.ca]

• Failure to Thrive

  Seyrantepe V, Kale G, Topaloglu H, et al. : Common deletion of mitochondrial DNA in a 5-year old girl with failure to thrive, ptosis, ophthalmoplegia, and ragged-red fibers. Brain Dev 1999, 21 :413–415. PubMed CrossRef Google Scholar 41. [link.springer.com]

• Blepharoptosis

  We assume an autosomal-dominant inheritance, the marker sign of which is blepharoptosis in several family members. [karger.com]

• Proximal Muscle Weakness

  PEOB3 patients manifest adult-onset progressive external ophthalmoplegia and progressive proximal muscle weakness associated with muscle atrophy. [uniprot.org]

  Methods: Samples from a large Pakistani family with adPEO, in which clinical symptoms are bilateral ptosis, limitations of eye movements, and varying degrees of proximal muscle weakness, were collected. [neurology.org]

  weakness Ophthalmoparesis Elevated serum creatine phosphokinase Dysarthria Rare Symptoms - Less than 30% cases Increased serum lactate Slow progression Proximal muscle weakness Mitochondrial myopathy Gowers sign Myalgia Multiple mitochondrial DNA deletions [mendelian.co]

  Two patients with A475P mutation in addition to CPEO had other clinical features such as proximal muscle weakness, ataxia, neuropathy, depression or avoidant personality traits, pes cavus and tremors. [bioline.org.br]

  In addition to proximal muscle weakness, ataxia, and the eye signs, these patients have recurrent attacks of nausea, vomiting and abdominal pain that mimic intestinal obstruction, starting in young adulthood. [neuroophthalmology.ca]

• Long Arm

  The POLG gene is located on the long arm of chromosome 15 (more precise localisation: 15q25). So far, 135 mutations in the POLG gene have been identified (The Human Gene Database, as of 09.2010). [labor-lademannbogen.de]

  The SLC25A4 gene (solute carrier family 25 member 4), located on the long arm of chromosome 4 (4q35), encoding the translocase enzyme adenine nucleotide type 1 (ANT1). [ivami.com]

  Genetics The polymerase gamma (POLG) gene ( POLG1 ) is located on the long arm of chromosome 15 and encodes for DNA polymerase γ, while the POLG2 gene, located on the long arm of chromosome 17, encodes for its catalytic accessory sub-unit 2,3,7. [radiopaedia.org]

• Psychiatric Symptoms

  The clinical presentation and onset of symptoms is very varied and largely depends on the phenotype that is expressed, which are summarized below. [radiopaedia.org]

  Patients with nuclear mutations in Twinkle or POLG genes also have an increased incidence of psychiatric symptoms, in particular mood disorders (40, 41). [neuroophthalmology.ca]

• Hyporeflexia

  Cytochrome C oxidase-negative muscle fibers Hyperthyroidism Goiter EMG: myopathic abnormalities Adult onset Dementia Progressive Sensorineural hearing impairment Milia Pica Increased muscle fatiguability Bilateral ptosis Anxiety Gait ataxia Depressivity Hyporeflexia [mendelian.co]

• Areflexia

  A similar disorder with ataxia and areflexia but without ophthalmoplegia is acute ataxic neuropathy. Un trastorno similar, con ataxia y arreflexia pero sin oftalmoplejía, es la neuropatía atáxica aguda. [glosbe.com]

• Confusion

  The fundus shows a pigmentary retinopathy (not to be confused with retinitis pigmentosa) similar to that in myotonic dystrophy and Bassen-Kornzweig disease, with a ‘salt and pepper’ appearance at the posterior pole and peripapillary region. [neuroophthalmology.ca]

Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. [books.google.com]

Separate treatment options for associated disorders (e.g., diabetes mellitus or hypoparathyroidism) may be necessary. In some cases, treatment may include hormone replacement therapies. [rarediseases.org]

[…] for CPEO and treatment is mainly symptomatic. – Surgical treatment of severe ptosis can be beneficial in patients with CPEO. [entokey.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment and prognosis Treatment is complex and non-curative, with focuses on family education, genetic counseling, symptom management, and supportive care 4. [radiopaedia.org]

KSS is slowly progressive and prognosis varies depending on severity and the number of systems or organs involved which widely varies from patient to patient. [umdf.org]

Conduction abnormalities have been successfully managed with pacemaker implantation. 6 In cases of severe cardiac dysfunction, heart transplant is an option. 28 Prognosis The visual prognosis for Kearns-Sayre syndrome is relatively good. [eyewiki.aao.org]

PROGNOSIS Course: Chronic, slowly progressive. COMPLICATIONS • Cardiac conduction defects • Endocrine disturbances REFERENCES 1. Cardaioli E, da Pozzo P, Malfatti E, et al. [entokey.com]

Therefore, when symptoms first appear, the course of the condition is very difficult to predict. [1] [6] For individuals with additional symptoms or another underlying condition associated with CPEO, the prognosis depends on the specific signs and symptoms [rarediseases.info.nih.gov]

We previously reported a case of PEO with unidentified genetic etiology. The patient was born of a first-cousin marriage. Therefore, the recessive form of inheritance was suspected. [ncbi.nlm.nih.gov]

Significant pain, proptosis, or pupil involvement are not features of CPEO and should prompt evaluation for alternative etiologies. Mitochondrial DNA mutations are increasingly being recognized as the etiology for CPEO syndromes. [link.springer.com]

Etiology Kearns-Sayre syndrome is a genetic disorder most commonly due to single sporadic deletions in mitochondrial DNA. [eyewiki.aao.org]

As newly discovered mutations continue to be found, more roads to etiology and pathogenesis continue to emerge. [medlink.com]

EPIDEMIOLOGY Incidence CPEO typically have an onset in childhood or early adolescence but they can occur at any age. [entokey.com]

: Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial disease in Taiwan. J Formosan Med Assoc 1999, 98 :326–334. PubMed Google Scholar 39. [link.springer.com]

PATHOPHYSIOLOGY • The mitochondria is responsible for production of ATP by oxidative phosphorylation, the detoxification of reactive oxygen species, regulation of cell apoptosis, and other functions such iron metabolism, fatty acid oxidation, and amino [entokey.com]

Retinal evaluation reveals disruption and atrophy of retinal photoreceptors as well as aberrant pigment distribution in all layers of the retina. 4, 5 Spongiform degeneration of the brain has been reported in multiple patients at autopsy. 6 Pathophysiology [eyewiki.aao.org]

Frequent comorbidity of mood disorders in patients of mitochondrial disease has been generally recognized [ 26 ] and several lines of evidences have supported the possible involvement of mitochondrial dysfunctions in the pathophysiology of mood disorders [genomebiology.biomedcentral.com]

Conclusion: Our study provides evidence that the investigation of mtDNA and Twinkle gene mutations in CPEO may help with early diagnosis and prevention of the disease. [bioline.org.br]

Ocular There is no definitive treatment for Kearns-Sayre syndrome although symptomatic and preventative treatments can improve quality of life. [eyewiki.aao.org]