Presentation
Jankovic is the recipient of many other honors including the American Academy of Neurology (AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease [books.google.com]
GORDON HOLAIES said that he coul(l ad(l nothing to the history of this case or its present state, but he was very (loubtfuil with regard to the (liagnosis set otut by Dr. Kendall. [1pdf.net]
It is crucial for the otolaryngologist to have awareness of MNGIE syndrome and other mitochondrial encephalomyopathies when patients present with sensorineural hearing loss (SNHL). [doi.org]
In this paper we present five FULL TEXT [annals.org]
A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. [nectarmutation.org]
Entire Body System
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Movement Disorder
CARROLL MBBS MD FRACP FRCP(E) Clinical Professor of Neurology, Western Australian Research Institute, University of Western Australia, Australia ROONGROJ BHIDAYASIRI MD FRCP Director, Chulalongkorn Comprehensive Movement Disorders Center Chulalongkorn [books.google.es]
disorder Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet Friedreich ataxia Aicardi-Goutieres syndrome type 5 Corneodermatoosseous syndrome Ankyloblepharon filiforme adnatum cleft palate Renpenning syndrome [checkrare.com]
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Recurrent Infection
infections, and monocytosis Bruck syndrome 1 Pulmonary atresia with ventricular septal defect Follicle-stimulating hormone deficiency, isolated Methylmalonic aciduria, cblA type Dwarfism Microcephaly-albinism-digital anomalies syndrome Tyrosinemia type [checkrare.com]
Skin
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Eczema
Adenomatous Polyposis, Autosomal Recessive MUTYH Congenital Abnormalities EYA1 Craniosynostosis Radial Aplasia Syndrome RECQL4 Cryptorchidism ATRX Deafness POLD1 Deafness, Autosomal Dominant 10 EYA4 Demyelinating Diseases SIRT1 Dermatitis PARP1 Atopic Eczema [selfdecode.com]
Neurologic
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Dystonia
AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease Society of America, the Tourette Syndrome Association Lifetime Achievement Award, the Dystonia [books.google.com]
Ataxia with vitamin E deficiency Ataxia-oculomotor apraxia type 1 Atypical glycine encephalopathy Atypical pantothenate kinase-associated neurodegeneration Autism spectrum disorder-epilepsy-arthrogryposis syndrome Autosomal dominant dopa-responsive dystonia [se-atlas.de]
Autosomal recessive dopa-responsive dystonia # Dopa responsive dystonia due to sepiapterin reductase deficiency Hyperphenylalaninemia 6-pyruvoyl-tetrahydropterin synthase deficiency Dehydratase deficiency Dihydropteridine reductase deficiency GTP cyclohydrolase [repository.innermed.eu]
[…] syndrome Wolf-Hirschhorn syndrome Intellectual disability - hypoplastic corpus callosum - preauricular tag Osteogenesis imperfecta type II Achalasia microcephaly syndrome Adrenomyodystrophy Orofaciodigital syndrome 3 Stiff person syndrome Myoclonus-dystonia [checkrare.com]
Mellitus SIRT1 Diabetes Mellitus, Experimental SIRT1 Diabetic Nephropathy TNFAIP1 Diabetic Retinopathy SIRT1 Dna Repair-Deficiency Disorders PNKP Drug Hypersensitivity HSPA1A Drug-Related Side Effects And Adverse Reactions HMGB1 Dyslipidemias NEIL1 Limb Dystonia [selfdecode.com]
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Hyperactivity
Amino Acid Metabolism, Inborn Errors XPC Amyotrophic Lateral Sclerosis 4, Juvenile SETX Anemia PARP1 Anoxia HIM-6 Arthritis, Juvenile GADD45A Arthrogryposis ERCC6 Asthma, Occupational HERC2 Ataxia Telangiectasia ATM Atr-X Syndrome ATRX Attention Deficit Hyperactivity [selfdecode.com]
[…] unilateral nystagmus and 11/20 had head nodding and/or torticollis Associated signs which necessitate CT scan but which did not present initially optic nerve atrophy developed eventually 18/20. diencephalic syndrome - emaciation despite food intake, hyperactivity [pedseyes.org]
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Hyporeflexia
Uncommon Symptoms - Between 30% and 50% cases Myopathy Hypertension Cerebellar atrophy Ptosis Nystagmus Hearing impairment Gynecomastia Short stature Renal insufficiency Elevated serum creatine phosphokinase Cognitive impairment Dysarthria Delayed puberty Hyporeflexia [mendelian.co]
Treatment
Management of Exotropia Non-Surgical Treatment Surgical Treatment I. Non-Surgical Treatment - for XT of 15 D - 20 D or less. Dominant eye occlusion Prisms Minus lenses Orthoptic therapy Botulinum toxin Dominant eye occlusion 1. [pedseyes.org]
He began diagnosing and treatment of mitochondrial disease during residency and has continued studying this disorder during his career at Seattle Children’s Hospital over the past 15 years. [books.google.es]
Acta neuropathologica 132 (2), 277-288, 2016 12 2016 Birth asphyxia as the most frequent perinatal complication V Peeva, O Golubnitschaja Predictive diagnostics and personalized treatment: dream or reality, 499-507, 2009 11 2009 Potential targets for [scholar.google.de]
Communications 2018 Replication of mammalian mitochondrial DNA (mtDNA) is an essential process that requires high fidelity and control at multiple… (More) Cai-Yi Zhang, Rui Chen, 7 authors Chun-feng Liu Neurochemical Research 2016 EGb-761 is commonly used as a treatment [semanticscholar.org]
Prognosis
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]
Type II - No OKN, poorer prognosis, repeat ocular exam. [pedseyes.org]
Etiology
Etiology a. Brainstem lesion (extremely rare, often produce bilateral defects. e.g. encephalitis, metastases, ischmeia). b. [pedseyes.org]
The molecular etiology of nonsyndromic hearing loss (NSHL) in Wenzhou, China, has not yet been systematically elucidated. [readbyqxmd.com]
Prevention
[…] disease, Nature Genetics, doi: 10.1038/ng.2501 Link to journal publication Helmholtz Zentrum München, as German Research Center for Environmental Health, pursues the goal of developing personalized medical approaches for the diagnosis, treatment and prevention [helmholtz-muenchen.de]
Lower lid lag prevented by cleaning IR 14 - 16 mm back K. [pedseyes.org]