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Autosomal Recessive Progressive External Ophthalmoplegia

arPEO


Presentation

  • 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]
  • Synonyms Chronic progressive external ophthalmoplegia CPEO Graefe disease Mitochondrial ocular myopathy Ocular myopathy of von Graefe-Fuchs Progressive external ophthalmoplegia autosomal recessive Keywords Disclaimer Any medical or genetic information present[uniprot.org]
  • In the present case, the recessive form of inheritance was suspected because of the patient's family history.[genomebiology.biomedcentral.com]
  • 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]
  • If present it may be managed with a pacemaker. Chronic Progressive External Ophthalmoplegia (Contd.)[centrallakesclinic.biz]
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]
  • muscle weakness Mitochondrial myopathy Gowers sign Myalgia Multiple mitochondrial DNA deletions Fatigue Ataxia Ragged-red muscle fibers Glaucoma Feeding difficulties Flexion contracture High palate Hearing impairment Sleep apnea Nemaline bodies Muscle[mendelian.co]
Narrow Face
  • face Long face Bulbar palsy Exertional dyspnea Tics Generalized amyotrophy Cardiomyopathy Obstructive sleep apnea Scoliosis Prolonged miniature endplate currents Decreased size of nerve terminals Hand muscle atrophy Type 2 muscle fiber atrophy Asthenia[mendelian.co]
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]
Resting Tremor
  • الصفحة 190 - Bradykinesia (slowness of initiation of voluntary movement with progressive reduction in speed and amplitude of repetitive actions) • And at least one of the following: muscular rigidity 4—6 Hz rest tremor postural instability not caused[books.google.com]
Bradykinesia
  • الصفحة 190 - Bradykinesia (slowness of initiation of voluntary movement with progressive reduction in speed and amplitude of repetitive actions) • And at least one of the following: muscular rigidity 4—6 Hz rest tremor postural instability not caused[books.google.com]
Postural Instability
  • الصفحة 190 - Bradykinesia (slowness of initiation of voluntary movement with progressive reduction in speed and amplitude of repetitive actions) • And at least one of the following: muscular rigidity 4—6 Hz rest tremor postural instability not caused[books.google.com]

Workup

Posterior Fossa Cysts
  • الصفحة 175 - Revised classification of posterior fossa cysts and cyst-like malformations based on the results of multiplanar MR imaging. ‏[books.google.com]

Treatment

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

Prognosis

  • 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]
  • Prognosis There is no proven treatment; experimental agents such as coenyzme Q10 may provide benefit.[wikidoc.org]

Etiology

  • 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

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]
  • 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]

Prevention

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

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