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104 Possible Causes for Generalized Dystonia, Myopathy, Opisthotonus

  • Stiff-Person Syndrome

    Initial misdiagnoses included functional movement disorder (n   2), generalized dystonia and parkinsonism (n   1), and hereditary spastic paraparesis (n   1).[] ( 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[] Prior diagnoses included psychogenic movement disorder (n   2), idiopathic generalized dystonia and parkinsonism (n   1), and hereditary spastic paraparesis (n   1).[]

  • 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.[] Supranuclear gaze palsy Opisthotonus Hydrops fetalis Ichthyosis-like cutaneous disorder Ocular complications including strabismus Trismus[]

  • Encephalopathy

    Previously described patients have suffered from acute-onset myoclonus and/or dystonia or post-viral parkinsonism.[] The myopathy must have developed between 1994 and 1997 because the neurological examination in 1994 revealed no obvious signs of myopathy.[] Although encephalopathy was initially suspected, this did not develop, but distal myopathy progressed continuously despite specific therapy.[]

  • Meningitis

    The stimulator consists of an intracranial lead, a connector, and a pulse generator that is implanted in the infraclavicular area [30].[] […] junction والعضلات Myasthenia gravis - Muscular dystrophy - Myotonic dystrophy - Myotonia congenita - Thomsen disease - Neuromyotonia - Paramyotonia congenita - Centronuclear myopathy[] […] neck (generally not present in children under the age of one year or in patients with altered mental state), back rigidity, bulging fontanelle (in infants), photophobia, opisthotonus[]

  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    dystonia with marked diurnal fluctuation.[] […] more specific examples of progress towards the basic defect in Batten's disease and Canavan's disease, and prospects for effective therapy in Menkes' disease and a lipid myopathy[] Bradykinesia Abnormality of extrapyramidal motor function Hypsarrhythmia Progressive neurologic deterioration Intellectual disability, progressive Abnormality of the eye Opisthotonus[]

  • Neurodegeneration with Brain Iron Accumulation

    […] as great as the benefit reported in patients with primary generalized dystonias or some other secondary dystonias.[] Neuromuscular manifestations of MLS comprise subclinical or mild sensorimotor axonopathy, myopathy, and cardiomyopathy.[] In evaluating patients with NBIAs in our centers, we have observed that action-induced dystonic opisthotonus is a common and characteristic feature of NBIAs.[]

  • Gaucher Disease

    Before the introduction of miglustat, this patient experienced frequent multifocal myoclonic jerks (up to 50 generalized seizures per day) as well as severe dystonia in his[] Metabolic neuropathies and myopathies D'Amico A, Bertini E Handbook of Clinical Neurology (Pediatric Neurology), 2013, 113, 3rd series, cha, p. 1437-1455, p. 148 Lysosomal[] Type 2 GD patients suffer significant progressive neurological impairment, including spasticity, opisthotonus, seizure, and apnea.[]

  • Proximal Myopathy with Extrapyramidal Signs

    […] lipomatosis Leber hereditary optic neuropathy (LHON) Subacute painless b/l visual failure M:F, 4:1 Median age of onset 24 y Dystonia Cardiac preexcitation syndromes Mitochondrial[] MalaCards based summary : Myopathy with Extrapyramidal Signs, is also known as proximal myopathy with extrapyramidal signs , and has symptoms including tremor and involuntary[] Pregnancy and Lactation: In newborn infants of mothers treated with phenothiazines during pregnancy, extrapyramidal reactions, including agitation, hypertonicity, opisthotonus[]

  • Autosomal Recessive Primary Microcephaly Type 10

    […] hypotonia Hypertonia Infantile onset Rare Symptoms - Less than 30% cases Autosomal dominant inheritance Dystonia Nystagmus Hypoplasia of the corpus callosum Ventriculomegaly[] Myopathy, scapulohumeroperoneal 616852 102610 Autosomal dominant ACTA1 1q42.13 Myopathy, actin, congenital, with cores 161800 102610 Autosomal dominant; Autosomal recessive[] […] myelination Brain atrophy Micrognathia Intellectual disability, mild Failure to thrive Hypoplasia of the ventral pons Increased serum lactate Irritability Nystagmus Progressive Opisthotonus[]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    […] hypotonia Microcephaly Growth delay SOURCES: MONDO UMLS SCTID ORPHANET NCIT MESH OMIM More info about ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS Medium match DYSTONIA[] E-2529 149 Metabolic Myopathies E-2547 150 Inflammatory Myopathies E-2595 151 Channelopathies E-2605 152 Management of Children with Neuromuscular Disorders E-2626 153 Endocrine[] , such as the severe variant of nemaline myopathy and X-linked myotubular myopathy.[]

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