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653 Possible Causes for Generalized Dystonia, Myopathy, Sudden Death

  • MELAS Syndrome

    ; alternating with ataxia, dystonia, choreoathetosis and spastic paraplegia.[] death (3251A G), to a disorder that often predominantly affects the CNS including the MELAS syndrome (3243A G, 3271T C, 3252T C). 22) deficiency (n 10) among young relatives[] Abstract Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare neurodegenerative disease caused by the decreased ability[]

  • 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[] Long QT syndrome is implicated as another possibility for sudden death in Kearns-Sayre syndrome.[] The syndrome is characterized by chronic progressive external ophthalmoplegia, tapetoretinal degeneration, and severe generalized myopathy.[]

  • Familial Isolated Dilated Cardiomyopathy

    […] limb-onset dystonia Myoclonus-dystonia syndrome Chronic intestinal pseudoobstruction Congenital short bowel syndrome Congenital valvular dysplasia Ehlers-Danlos syndrome[] Often, DCM can be asymptomatic and sudden death is the first and only symptom.[] Synonyms: Centronuclear myopathy [Disease Ontology: DOID:14717 ] Disease Ontology: DOID:14717 Orphanet: ORPHA169186 Disease: Cardiomyopathy, dilated, 1G; CMD1G Synonyms:[]

  • Emery-Dreifuss Muscular Dystrophy Type 2

    […] epilepsy with febrile seizures plus GALC Krabbe disease GAMT Guanidinoacetate methyltransferase deficiency GCDH Glutaric aciduria GCH1 Dopa-Responsive Dystonia Hyperphenylalaninemia[] death and ischemic accidents due to embolism.[] An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation.[]

  • Dilated Cardiomyopathy Type 2B

    9/GLUT1 deficiency syndrome 1, infantile onset, severe/GLUT1 deficiency syndrome 2, childhood onset/Epilepsy, idiopathic generalized, susceptibility to, 12 138140 EPI Epilepsy[] Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome J A Goodship 1, J O'Sullivan 2, P F Chinnery 3,[] .3,4 Furthermore myotilin mutations have now been demonstrated in myofibrillar myopathy, or desmin-related myopathy, as well as in LGMD1A.5 These observations and several[]

  • Congenital Muscular Dystrophy due to LMNA Mutation

    […] limb-onset dystonia Myoclonus-dystonia syndrome Chronic intestinal pseudoobstruction Congenital short bowel syndrome Congenital valvular dysplasia Ehlers-Danlos syndrome[] Respiratory difficulties and cardiac disorders such as arrhythmias and cardiac dilatation, which can both cause a sudden death.[] We analyzed features characterizing the various forms of LMNA -related myopathy through correlation statistics.[]

  • Stiff-Person Syndrome

    Initial misdiagnoses included functional movement disorder (n   2), generalized dystonia and parkinsonism (n   1), and hereditary spastic paraparesis (n   1).[] Sudden and unexpected deaths have been reported in SPS, and all described cases have been associated with apnea.[] ( G72.1 ) cramp and spasm ( R25.2 ) drug-induced myopathy ( G72.0 ) myalgia ( M79.1- ) stiff-man syndrome ( G25.82 ) Type 2 Excludes nontraumatic hematoma of muscle ( M79.81[]

  • Adult-Onset Cervical Dystonia Type DYT23

    DYT1 dystonia typically presents as early onset, generalized dystonia, starting in the legs.[] Tissue and organ donation for research in forensicpathology: The MRC Sudden Death Brain and Tissue Bank.J. Pathol. 213, 369375.12.[] COL6A1 Bethlem myopathy COL6A2 Bethlem myopathy type 1 COL6A3 Bethlem myopathy type 2 COL12A1 Borjeson-Forssman-Lehmann syndrome PHF6 Brody myopathy ATP2A1 Brunner syndrome[]

  • Cardiac Dilatation

    […] encephalopathy Mitochondrial respiratory chain defects Jamaican vomiting sickness Infant onset Clinical Failure to thrive Developmental delay Hypotonia CNS: Seizures (22%); Dystonia[] […] are classified as sudden or non-sudden, sudden cardiac death is defined as death occurring suddenly and unexpectedly in a patient who is otherwise stable prior to the event[] […] cardiac death (SCD), possibly due to blood redistribution after thoracic dissection.[]

  • Hereditary Hyperekplexia

    The patients have generalized dystonia, often associated with axial hypotonia and diffuse choreoathetoid movements.[] Recurrent apnea, feeding difficulties, choking, and sudden death are reported in some cases.[] […] 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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