Create issue ticket

4,602 Possible Causes for Generalized Dystonia, Mutation in the MTND6 Gene, Myopathy

  • MELAS Syndrome

    It is a large heterogeneic syndrome with possible mutation of many genes such as MTTL1, MTND6, and MTTQs.[accessanesthesiology.mhmedical.com] ; alternating with ataxia, dystonia, choreoathetosis and spastic paraplegia.[oatext.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]

  • Writer's Cramp

    Two cases are reported in which simple writer's cramp turned into dystonic writer's cramp without progression to generalized dystonia.[ncbi.nlm.nih.gov] SIGNIFICANCE: Our findings may suggest pathophysiological differences between focal and generalized dystonia, and may also point to an inferior sensitivity of SEPs in detecting[ncbi.nlm.nih.gov] We have noted also the frequent association of other features of segmental and generalized dystonia in patients with dystonic writers' cramp.[academic.oup.com]

    Missing: Mutation in the MTND6 Gene
  • Familial Isolated Dilated Cardiomyopathy

    , MTND5, MTND6 Loci involved CMD1A (1p11-q11) : mutations in the lamin A/C gene (LMNA) (MIM.150330) CMD1B (MIM.600884) on 9q13 CMD1C (MIM.601493) on 10q21 CMD1D (MIM.601494[humpath.com] […] limb-onset dystonia Myoclonus-dystonia syndrome Chronic intestinal pseudoobstruction Congenital short bowel syndrome Congenital valvular dysplasia Ehlers-Danlos syndrome[csbg.cnb.csic.es] Synonyms: Centronuclear myopathy [Disease Ontology: DOID:14717 ] Disease Ontology: DOID:14717 Orphanet: ORPHA169186 Disease: Cardiomyopathy, dilated, 1G; CMD1G Synonyms:[guidetopharmacology.org]

  • Meige Syndrome

    Deep brain stimulation of the globus pallidus internus (GPi DBS) is effective in the treatment of primary segmental and generalized dystonia.[ncbi.nlm.nih.gov] Deep brain stimulation for primary generalized dystonia: long-term outcomes. Arch Neurol 2009;66:465–470. 6. Jankovic J.[e-jmd.org] In addition, there are forms of dystonia that may have a genetic cause: DYT1 dystonia is a rare form of dominantly inherited generalized dystonia that can be caused by a mutation[myjourneywithcervicaldystonia.blogspot.com]

    Missing: Mutation in the MTND6 Gene
  • Lethal Infantile Mitochondrial Myopathy

    […] no mutations in the MTND1 subunit gene associated with MELAS.[jmg.bmj.com] […] avoid dantrolene if liver is involved). • Dystonia (diazepam, botulinum toxin [focal], trihexyphenidyl). • Headache (acute: nonsteroidal anti-inflammatory drugs and acetaminophen[slideshare.net] LEVIM stands for "Lethal Infantile Mitochondrial Myopathy" How to abbreviate Lethal Infantile Mitochondrial Myopathy?[allacronyms.com]

  • Autosomal Dominant Progressive External Ophthalmoplegia Type 6

    They can either alter polypeptide genes, missense mutations, or structural RNAs, protein synthesis mutations and are designated by the gene name, an asterisk, a clinical phenotype[mitomap.org] Acquired myopathies can be subclassified as inflammatory myopathies, toxic myopathies, and myopathies associated with systemic conditions.[clevelandclinicmeded.com] Magalhães PJ, Sjö O, Nørby S: Ocular myopathy and mitochondrial DNA deletion. Acta Ophthalmol Scand 1996;74:29–32.[karger.com]

  • Adult-Onset Cervical Dystonia Type DYT23

    DYT1 dystonia typically presents as early onset, generalized dystonia, starting in the legs.[neupsykey.com] 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] Multifocal dystonia affects many different parts of the body. Generalized dystonia affects most of the body, frequently involving the legs and back.[wikivisually.com]

    Missing: Mutation in the MTND6 Gene
  • Oppenheim Disease

    Treatment: Treatment options include botulinum toxin injections for focal symptoms, pharmacological therapy such as anticholinergics for generalized dystonia and surgical[medigoo.com] […] and Turner), nemaline myopathy, and central core disease.[jnnp.bmj.com] Convert to ICD-10-CM : 333.6 converts directly to: 2015/16 ICD-10-CM G24.1 Genetic torsion dystonia Approximate Synonyms Dystonia, generalized Dystonia, idiopathic torsion[icd9data.com]

    Missing: Mutation in the MTND6 Gene
  • Spasmodic Torticollis

    This form of focal dystonia is unlikely to spread beyond the neck and shoulders or become generalized dystonia.[dystoniacanada.org] Such a type of focal dystonia is quite unlikely to spread outside the shoulders and neck region and become generalized dystonia.[hxbenefit.com] Fahn S. generalized dystonia: Concept and treatment. Clinical Neuropharmacol 1986; 9 (supl 2): 37-48. 4. Marsden C D. The focal dystonias.[svneurologia.org]

    Missing: Mutation in the MTND6 Gene
  • Familial Visceral Myopathy

    A missense variant (R183W) in non-muscle actin (ACTB, β-actin) has been linked to a combination of malformations, sensory hearing loss, and delayed-onset generalized dystonia[agajournals.wordpress.com] Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that[ncbi.nlm.nih.gov] Familial visceral myopathy is a form of chronic intestinal pseudoobstruction in which fibrosis of the smooth muscle of the alimentary tract causes protean symptoms of disordered[ncbi.nlm.nih.gov]

    Missing: Mutation in the MTND6 Gene

Similar symptoms