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653 Possible Causes for Generalized Dystonia, Myopathy, Sudden Death

  • MELAS Syndrome

    ; alternating with ataxia, dystonia, choreoathetosis and spastic paraplegia.[oatext.com] 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[medical-dictionary.thefreedictionary.com] Abstract Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare neurodegenerative disease caused by the decreased ability[ncbi.nlm.nih.gov]

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

  • Familial Isolated Dilated Cardiomyopathy

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

  • 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[genda.com.ar] death and ischemic accidents due to embolism.[link.springer.com] An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation.[annalsofian.org]

  • 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[lhsc.on.ca] 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,[jmg.bmj.com] .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[books.google.com]

  • 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[csbg.cnb.csic.es] Respiratory difficulties and cardiac disorders such as arrhythmias and cardiac dilatation, which can both cause a sudden death.[en.wikipedia.org] We analyzed features characterizing the various forms of LMNA -related myopathy through correlation statistics.[neurology.org]

  • Stiff-Person Syndrome

    Initial misdiagnoses included functional movement disorder (n   2), generalized dystonia and parkinsonism (n   1), and hereditary spastic paraparesis (n   1).[jamanetwork.com] Sudden and unexpected deaths have been reported in SPS, and all described cases have been associated with apnea.[ncbi.nlm.nih.gov] ( 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[icd10data.com]

  • Adult-Onset Cervical Dystonia Type DYT23

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

  • Cardiac Dilatation

    […] encephalopathy Mitochondrial respiratory chain defects Jamaican vomiting sickness Infant onset Clinical Failure to thrive Developmental delay Hypotonia CNS: Seizures (22%); Dystonia[neuromuscular.wustl.edu] […] 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[bmcresnotes.biomedcentral.com] […] cardiac death (SCD), possibly due to blood redistribution after thoracic dissection.[ncbi.nlm.nih.gov]

  • Hereditary Hyperekplexia

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

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