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639 Possible Causes for Generalized Dystonia, Hemiplegia, Myopathy

  • Adult-Onset Cervical Dystonia Type DYT23

    DYT1 dystonia typically presents as early onset, generalized dystonia, starting in the legs.[neupsykey.com] Oppenheim and Vogats 1911 Abnormality of any attitude owing to sustained muscle contraction Danny Brown Flexion dystonia of Parkinsonism Spastic dystonia of hemiplegia, paraplegia[vdocuments.net] 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]

  • MELAS Syndrome

    ; alternating with ataxia, dystonia, choreoathetosis and spastic paraplegia.[oatext.com] Episodes may be followed by transient hemiplegia or hemianopia lasting a few hours to several weeks.[markalewis.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]

  • Oppenheim Disease

    Treatment: Treatment options include botulinum toxin injections for focal symptoms, pharmacological therapy such as anticholinergics for generalized dystonia and surgical[medigoo.com] Dejerine described developmental diagnosis Diseases of Children Duchenne early epilepsy Figure 1 courtesy Frederick Batten Freud Friedreich German Gowers Hagberg Harvey Cushing hemiplegia[books.google.com] […] and Turner), nemaline myopathy, and central core disease.[jnnp.bmj.com]

  • Spastic Quadriplegic Cerebral Palsy Type 2

    With significant dystonia/involuntary movements Dystonia and involuntary movements (specifically choreoathetosis) are not as common in CP as is generally believed.[adc.bmj.com] […] and hemiparesis G81.1 Spastic hemiplegia[coding-pro.com] Diseases related with Myopathy and Spastic tetraplegia In the following list you will find some of the most common rare diseases related to Myopathy and Spastic tetraplegia[mendelian.co]

  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    dystonia with marked diurnal fluctuation.[ncbi.nlm.nih.gov] […] 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[books.google.com] Dystonia was present in the eyelids, oromandibular region, trunk, and extremities (Meige syndrome plus double hemiplegia- like dystonia).[dokumen.tips]

  • Idiopathic Camptocormia

    […] was a case of generalized dystonia with camptocormia.[neurologyindia.com] […] pregnancy 300.11 Fit 780.39 hysterical 300.11 Flexibilitas cerea (see also Catalepsy) 300.11 Gait Giddiness 780.4 hysterical 300.11 Globus 306.4 hystericus 300.11 Grand Hemiplegia[icd9data.com] The cause of camptocormia in idiopathic PD is a focal myopathy.[ncbi.nlm.nih.gov]

  • Spastic Ataxia with Congenital Miosis

    […] syndrome Friedreich ataxia Frontotemporal dementia with motor neuron disease Frontotemporal neurodegeneration with movement disorder Fucosidosis GM1 gangliosidosis type 2 Generalized[se-atlas.de] (90%) Very frequent (99-80%) HP:0007728 3 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639 4 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347 5 hemiplegia[malacards.org] 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[books.google.com]

  • Athetoid Cerebral Palsy

    For example, some children may exhibit dystonia characteristics all over the body, known as general dystonia, whereas others may exhibit symptoms only in one leg or in one[birthinjuryguide.org] […] and hemiparesis G81.0 Flaccid hemiplegia G81.00 …… affecting unspecified side G81.01 …… affecting right dominant side G81.02 …… affecting left dominant side G81.03 …… affecting[icd10data.com] For example, while one child may have involuntary, awkward movements in the entire body (generalized dystonia), another child may have these same symptoms only in the legs[cerebralpalsyguidance.com]

  • Amyotrophic Lateral Sclerosis

    It can be localized to a certain group of muscles or can be generalized (180).[functionalneurology.com] Mills' syndrome: ascending (or descending) progressive hemiplegia: a hemiplegic form of primary lateral sclerosis? J. Neurol. Neurosurg.[doi.org] Mutations in the valosin-containing protein (VCP) gene were first found to cause inclusion- body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD[ncbi.nlm.nih.gov]

  • Mitochondrial Complex 3 Deficiency

    […] limb-onset dystonia;DYT1; Dystonia musculorum deformans; EOTD; Early-onset generalized torsion dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Idiopathic[catalogue.rd-connect.eu] Autosomal thrombocytopenia with normal platelets X-linked intellectual deficit with marfanoid habitus X-linked non-syndromic intellectual deficit Burkitt lymphoma Alternating hemiplegia[csbg.cnb.csic.es] TY - JOUR T1 - A case of mitochondrial myopathy, lactic acidosis and complex I deficiency.[unboundmedicine.com]

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