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Autosomal Dominant Progressive External Ophthalmoplegia Type 6

PEOA6


Presentation

  • Acronym PEOA6 Synonyms Progressive external ophthalmoplegia autosomal dominant 6 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • The abnormal muscle and mitochondrial morphology in a variety of clinical presentations from isolated ophthalmoplegia to severe encephalopathy are also elaborated.[books.google.com]
  • The age of diagnosis was also correlated with clinical presentation ( Table 3 ).[nature.com]
  • There is a reported case of multiple, different mtDNA deletions present in two brothers with Pearson's syndrome, as well as in their asymptomatic mother (9). No mtDNA mutations were detected in the mother of the present patient.[path.upmc.edu]
  • Horga and his colleagues paid attention to the records of demographics, clinical data, and neurophysicological data from these patients, as well as the type of mutation present.[mitochondrialdiseasenews.com]
Chronic Fatigue Syndrome
  • The Journal of Pathology. 2005. 207(4): p. 436-44. [162] Zhang, C., et al., Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome.[mitobreak.portugene.com]
Dyspnea
  • Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6, is also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 , and has symptoms including muscle cramp , myalgia and dyspnea[malacards.org]
  • Exertional dyspnea MedGen UID: 68549 • Concept ID: C0231807 • Sign or Symptom Elevated serum creatine phosphokinase MedGen UID: 69128 • Concept ID: C0241005 • Finding An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase[ncbi.nlm.nih.gov]
  • Generalized amyotrophy Sleep apnea Difficulty walking Apnea Dyspnea Tremor Elevated serum creatine phosphokinase Distal upper limb muscle weakness Distal lower limb muscle weakness Sensorimotor neuropathy Foot dorsiflexor weakness Areflexia Palmomental[mendelian.co]
  • In the muscular dystrophies, which tend to manifest in childhood or adolescence, dyspnea, cardiac abnormalities, contractures, scapular winging, calf hypertrophy, and skeletal deformities may be present in addition to slowly progressive weakness.[clevelandclinicmeded.com]
Sleep Apnea
  • Obstructive sleep apnea syndrome MedGen UID: 101045 • Concept ID: C0520679 • Disease or Syndrome Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social[ncbi.nlm.nih.gov]
  • apnea Exertional dyspnea Generalized amyotrophy Sleep apnea Difficulty walking Apnea Dyspnea Tremor Elevated serum creatine phosphokinase Distal upper limb muscle weakness Distal lower limb muscle weakness Sensorimotor neuropathy Foot dorsiflexor weakness[mendelian.co]
Exertional Dyspnea
  • Exertional dyspnea MedGen UID: 68549 • Concept ID: C0231807 • Sign or Symptom Elevated serum creatine phosphokinase MedGen UID: 69128 • Concept ID: C0241005 • Finding An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase[ncbi.nlm.nih.gov]
  • […] pain Abnormality of metabolism/homeostasis Ophthalmoparesis Myotonia Cataract Hyperlordosis Decreased facial expression Tip-toe gait Limb-girdle muscle weakness Slender build Hypomimic face Progressive external ophthalmoplegia Obstructive sleep apnea Exertional[mendelian.co]
Muscle Cramp
  • cramp , myalgia and dyspnea on exertion .[malacards.org]
  • [from OMIM ] Muscle cramps MedGen UID: 7749 • Concept ID: C0026821 • Sign or Symptom A sustained and usually painful contraction of muscle fibers.[ncbi.nlm.nih.gov]
  • In the patient’s history, muscle cramps with intermittent weakness and polyneuropathy with disturbed micturition were the predominant symptoms.[link.springer.com]
  • Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.[mendelian.co]
Diffuse Muscle Wasting
  • Clinical examination indicated cachexia (39 kg, 166 cm), diffuse muscle wasting, abdominal distention, bilateral external ophthalmoplegia, ptosis, gait ataxia, and lower limb hypoesthesia.[em-consulte.com]
Diffuse Muscle Wasting
  • Clinical examination indicated cachexia (39 kg, 166 cm), diffuse muscle wasting, abdominal distention, bilateral external ophthalmoplegia, ptosis, gait ataxia, and lower limb hypoesthesia.[em-consulte.com]
Uremia
  • ., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398) External ophthalmoplegia MedGen UID: 57662 • Concept ID: C0162292 • Disease or Syndrome Paralysis of the external ocular muscles.[ncbi.nlm.nih.gov]
Gowers Sign
  • Gowers sign MedGen UID: 108389 • Concept ID: C0575071 • Finding A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.[ncbi.nlm.nih.gov]
  • sign Muscle cramps Cerebellar atrophy Dysphagia Intellectual disability Global developmental delay Infantile onset Gait disturbance Obesity Depressed nasal bridge Areflexia of lower limbs Hyperactivity Intellectual disability, severe Respiratory distress[mendelian.co]
Gowers Sign
  • Gowers sign MedGen UID: 108389 • Concept ID: C0575071 • Finding A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.[ncbi.nlm.nih.gov]
  • sign Muscle cramps Cerebellar atrophy Dysphagia Intellectual disability Global developmental delay Infantile onset Gait disturbance Obesity Depressed nasal bridge Areflexia of lower limbs Hyperactivity Intellectual disability, severe Respiratory distress[mendelian.co]

Treatment

  • 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 Treatment Options: No effective treatment is available.[disorders.eyes.arizona.edu]
  • 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]
  • Treatment: As with all mitochondrial diseases, there is no cure for Complex I deficiency.[umdf.org]

Prognosis

  • Meet other parents and patients in our closed Facebook group. back to top What is the Prognosis for Someone? The prognosis is variable. Some people live a normal life and are minimally affected; others can be severely compromised with the disease.[mitoaction.org]
  • The prognosis for MELAS is poor. Typically, the age of death is between 10 to 35 years, although some patients may live longer.[umdf.org]
  • PROGNOSIS Prognosis depends upon which disorder, which symptoms and the severity of those symptoms. Some of the conditions we thought were uniformly progressive and fatal are not (Leigh syndrome, for example).[childneurologyfoundation.org]
  • Prognosis The prognosis of progressive external ophthalmoplegia depends on the associated neurological problems; in particular, whether there is severe limb weakness or cerebellar symptoms that may be mild or disabling.[medical-dictionary.thefreedictionary.com]
  • The MTTL1 gene is most often associated with the mitochondrial inheritance pattern, along with other mtRNA and mtDNA genes. [14] Prognosis The prognosis is guarded with a generally progressive disorder.[emedicine.medscape.com]

Etiology

  • Etiology Neurol Sci 2014 Mar;35(3):443-8. Epub 2013 Oct 4 doi: 10.1007/s10072-013-1557-8.[ncbi.nlm.nih.gov]
  • While the etiology of multiple deletions is indeterminate and requires nuclear genes analysis, mtDNA deletions accompanying pathogenic point mutations, independently from patient's age, may contribute to the phenotypic severity.[neurology.org]
  • Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures.[clevelandclinicmeded.com]
  • Clinical trials involving dichloroacetate (DCA) administration are ongoing for patients with lactic acidosis of varying etiologies, and it is hoped that the experimental use of DCA in Pearson's syndrome may provide additional relief of symptoms (Carolyn[path.upmc.edu]
  • Etiology Kearns-Sayre syndrome is a genetic disorder most commonly due to single sporadic deletions in mitochondrial DNA.[eyewiki.aao.org]

Epidemiology

  • The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000 ; 48 : 188 –93. Zeviani M , Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, Rowland LP. Deletions of mitochondrial DNA in Kearns-Sayre syndrome.[jmg.bmj.com]
  • […] hepatitis B or hepatitis C Reye syndrome Wilson disease Myopathy Chronic demyelinating inflammatory polyneuropathy Dermatomyositis Guillain-Barré syndrome Paraneoplastic syndrome Lactic acidosis Inborn errors of metabolism Polymyositis Sepsis Background Epidemiology[arupconsult.com]
  • Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan. Pang CY, Huang CC, Yen MY, Wang EK, Kao KP, Chen SS, Wei YH.[thedoctorsdoctor.com]
  • The balance of oxidative demands of a given tissue and the proportion of deleted mtDNA it contains will ultimately determine whether the tissue is affected clinically. [12] Epidemiology Frequency Worldwide Worldwide, the prevalence of mitochondrial disease[emedicine.medscape.com]
  • The incidence is unknown, although the epidemiological studies of the MELAS-3243 mtDNA mutation have estimated the prevalence to be 1-16/100,000 in the adult population. There is no cure or specific treatment for MELAS.[umdf.org]
Sex distribution
Age distribution

Pathophysiology

  • […] variant Females with heteroplasmy but no clinical symptoms may have affected offspring Variable amount of affected mitochondria is passed to offspring Poor genotype/phenotype correlation exists; the same variant may cause different clinical syndromes Pathophysiology[arupconsult.com]
  • Pathophysiology Mitochondrial DNA (mtDNA) encodes for essential components of the respiratory chain.[emedicine.medscape.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]
  • Endocrine system Endocrine disorders may present in childhood or may develop over time and present in adulthood.[ 17,18 ] Diabetes mellitus with a complex pathophysiology can occur.[bcmj.org]
  • These rho 0 cells, in conjunction with the cybrid mitochondrial transfer technique employing fusion with enucleated cells (223, 224, 232) , has permitted studying the pathophysiology of clinically relevant mtDNA mutations.[mitomap.org]

Prevention

  • Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is prevented by the presence of RPA.[ghr.nlm.nih.gov]
  • Prevention of secondary complications: Antioxidants may ameliorate damage from reactive oxygen species; percutaneous endoscopic gastrostomy may improve nutritional intake and prevent aspiration pneumonia in individuals with severe dysphagia.[ncbi.nlm.nih.gov]
  • Prevention There is no way to prevent ophthalmoplegia. Resources Organizations American Academy of Neurology. 1080 Montreal Ave., St. Paul, MN 55116. (612) 695-1940. .[medical-dictionary.thefreedictionary.com]
  • Can Alper's be prevented? If the genetic faults are present, then there is nothing that can be taken during pregnancy or given to the infant that will prevent Alper's occurring.[mitochondrialdisease.nhs.uk]
  • How can mitochondrial disorders be prevented? Since this is a genetically determined disorder, there is no prevention. Prevention of stressors that exacerbate the condition, such as illness, is advocated for all mitochondrial disease.[clinicaladvisor.com]

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