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

  • Writer's Cramp

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

    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[] […] limb-onset dystonia Myoclonus-dystonia syndrome Chronic intestinal pseudoobstruction Congenital short bowel syndrome Congenital valvular dysplasia Ehlers-Danlos syndrome[] Synonyms: Centronuclear myopathy [Disease Ontology: DOID:14717 ] Disease Ontology: DOID:14717 Orphanet: ORPHA169186 Disease: Cardiomyopathy, dilated, 1G; CMD1G Synonyms:[]

  • Meige Syndrome

    Deep brain stimulation of the globus pallidus internus (GPi DBS) is effective in the treatment of primary segmental and generalized dystonia.[] Deep brain stimulation for primary generalized dystonia: long-term outcomes. Arch Neurol 2009;66:465–470. 6. Jankovic J.[] 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[]

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

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

  • 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[] Acquired myopathies can be subclassified as inflammatory myopathies, toxic myopathies, and myopathies associated with systemic conditions.[] Magalhães PJ, Sjö O, Nørby S: Ocular myopathy and mitochondrial DNA deletion. Acta Ophthalmol Scand 1996;74:29–32.[]

  • Adult-Onset Cervical Dystonia Type DYT23

    DYT1 dystonia typically presents as early onset, generalized dystonia, starting in the legs.[] COL6A1 Bethlem myopathy COL6A2 Bethlem myopathy type 1 COL6A3 Bethlem myopathy type 2 COL12A1 Borjeson-Forssman-Lehmann syndrome PHF6 Brody myopathy ATP2A1 Brunner syndrome[] Multifocal dystonia affects many different parts of the body. Generalized dystonia affects most of the body, frequently involving the legs and back.[]

    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[] […] and Turner), nemaline myopathy, and central core disease.[] 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[]

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

    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[] Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that[] 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[]

    Missing: Mutation in the MTND6 Gene

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