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752 Possible Causes for Generalized Dystonia, Myopathy, Pediatric Disorder

  • MELAS Syndrome

    ; alternating with ataxia, dystonia, choreoathetosis and spastic paraplegia.[] Links Publisher Full Text Authors Show Affiliations, Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates[] Abstract Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare neurodegenerative disease caused by the decreased ability[]

  • MERRF Syndrome

    Nervous system: ataxia, dystonia, chorea, athetosis, myoclonus, leukodystrophy, seizur es, infantile spasms, cerebral atrophy, myopathy, neuropathy, st roke, deafness, headache[] Skeletal muscle mitochondrial defects in nonspecific neurological disorders. Pediatr Neurol. 1999 ;21: 538 – 542. Google Scholar Crossref Medline ISI 5.[] There may also be seizures, cerebellar ataxia and myopathy.[]

  • Kearns-Sayre Syndrome

    Have been reported other uncommon associations such as: focal and generalized dystonia with deletion of 5.9 kb from mtDNA 22, Toni-Debre-Fanconi syndrome with focal deficiency[] […] symptoms in infants, children, and young adults through images of common and unusual presenting features for over 300 pediatric disorders.[] The syndrome is characterized by chronic progressive external ophthalmoplegia, tapetoretinal degeneration, and severe generalized myopathy.[]

  • Short Chain Acyl CoA Dehydrogenase Deficiency

    […] encephalopathy Mitochondrial respiratory chain defects Jamaican vomiting sickness Infant onset Clinical Failure to thrive Developmental delay Hypotonia CNS: Seizures (22%); Dystonia[] Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations. Eur J Pediatr. 2000;159:S213-S218. Rinaldo P.[] To determine an underlying genetic defect within the differential diagnosis of congenital multicore myopathy.[]

  • Hallervorden-Spatz Syndrome

    Generalized dystonia is one of the most disabling movement disorders.[] […] treatments and interventions Covers neurological, neuropsychiatric, and neuromedical disorders across the lifespan (pediatric, adult, and geriatric populations) Includes[] , Multicore myopathy, Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external[]

  • Meige Syndrome

    Deep brain stimulation of the globus pallidus internus (GPi DBS) is effective in the treatment of primary segmental and generalized dystonia.[] […] movement disorder patients See Clearpoint Neuro Intervention System demonstration video and patient story.[] Deep brain stimulation for primary generalized dystonia: long-term outcomes. Arch Neurol 2009;66:465–470. 6. Jankovic J.[]

  • Glutaric Aciduria

    Initiation of treatment after the onset of symptoms is generally less effective. Secondary dystonia is often difficult to treat.[] Glutaric aciduria type-I: A potentially treatable and easily diagnosable neurometabolic disorder Department of Pediatrics, JNMC, KLEU, Belagavi, Karnataka, India Date of Web[] KEYWORDS: glutaric aciduria type II; multiple acyl Co-A dehydrogenase deficiency; myopathy; rhabdomyolysis[]

  • Adult-Onset Cervical Dystonia Type DYT23

    DYT1 dystonia typically presents as early onset, generalized dystonia, starting in the legs.[] Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[] COL6A1 Bethlem myopathy COL6A2 Bethlem myopathy type 1 COL6A3 Bethlem myopathy type 2 COL12A1 Borjeson-Forssman-Lehmann syndrome PHF6 Brody myopathy ATP2A1 Brunner syndrome[]

  • Camurati-Engelmann Syndrome

    […] polymicrogyria Early infantile epileptic encephalopathy 25 Duane syndrome type 1 Glycogen storage disease type 12 Rapid-onset dystonia-parkinsonism Limb-girdle muscular dystrophy[] Pediatrics 1984 ; 74 : 399 –405. 3 Crisp AJ, Brenton DP. Engelmann's disease of bone—a systemic disorder?[] Gumruk F, Besim A, Altay C: Ghosal haemato-diaphyseal dysplasia: a new disorder. Eur J Pediatr. 1993 Mar;152(3):218-21.[]

  • Hyperalaninemia

    […] hypotonia Failure to thrive SOURCES: OMIM ORPHANET UMLS MONDO More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10 High match DYSTONIA, DOPA-RESPONSIVE[] , Inborn Errors Disorders of Excessive Somnolence Humans Infant Male Seizures Taurine beta-Alanine gamma-Aminobutyric Acid Pub Type(s) Case Reports Journal Article Research[] […] the description of novel mutations in patients with neuromuscular diseases and the application of new technologies to explore the pathogenesis and treatment of congenital myopathies[]

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