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482 Possible Causes for Generalized Dystonia, Kyphoscoliosis, Myopathy

  • 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] ( 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] Prior diagnoses included psychogenic movement disorder (n   2), idiopathic generalized dystonia and parkinsonism (n   1), and hereditary spastic paraparesis (n   1).[jamanetwork.com]

  • Schwartz-Jampel Syndrome

    Preoperative assessment Negative general anesthesia.[asja.eg.net] […] is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis[ncbi.nlm.nih.gov] […] autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36 myotonic myopathy[wikidata.org]

  • Native American Myopathy

    […] polymicrogyria Early infantile epileptic encephalopathy 25 Duane syndrome type 1 Glycogen storage disease type 12 Rapid-onset dystonia-parkinsonism Limb-girdle muscular dystrophy[checkrare.com] Category disease or phenotype associations Type phenotype Description Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis[amp.pharm.mssm.edu] myopathy-cleft palate-malignant hyperthermia syndrome NATIVE AMERICAN MYOPATHY; NAM NATIVE AMERICAN MYOPATHY edit English Native American myopathy Human disease Myopathy,[wikidata.org]

  • 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]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    2 dystonia, focal/Meige syndrome 1 dystonia, generalized, adult onset, progressive 1 dystonia, generalized, childhood onset 1 dystonia, generalized, familial 1 dystonia,[msdiscovery.org] American myopathy (NAM) is an autosomal recessive disorder characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis[mendelian.co] […] dwarfism Microcephaly Microcephaly Microcephaly a – Microcephaly l Microcephaly albinism digital anomalies syndrome Microcephaly autosomal dominant Microcephaly brachydactyly kyphoscoliosis[en.wikipedia.org]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Alcohol dependence Insomnia Neuropathic pain Major depressive disorder Bipolar disorder Schizophrenia Generalized anxiety disorder Panic disorder Social anxiety disorder[csirnotes.com] Note scalp hypotrichosis and kyphoscoliosis. Fig. 4.[docslide.com.br] Congenital fiber-type disproportion myopathy Congenital myopathy with excess of thin filaments Intermediate nemaline myopathy Severe congenital nemaline myopathy Typical[csbg.cnb.csic.es]

  • Oculo-Palato-Cerebral Syndrome

    […] bulbospinal muscular atrophy Generalized epilepsy with febrile seizures-plus Generalized epilepsy-paroxysmal dyskinesia syndrome Generalized isolated dystonia Genetic central[se-atlas.de] Skeletal anomalies include pectus excavatum, joint hyperlaxity and kyphoscoliosis.[orpha.net] […] of bone and Syndactyly preaxial polydactyly and Caspase-8 deficiency hemolytic anemia frontotemporal dementia Ocular motility disorders sternal deformity Inclusion body myopathy[yumpu.com]

  • Ehlers-Danlos Syndrome

    How to treat dystonia in EDS?[symbiosisonlinepublishing.com] […] develop kyphoscoliosis later in infancy.[ncbi.nlm.nih.gov] In 2012, a new Ehlers-Danlos (ED) variant, characterized by severe progressive kyphoscoliosis, neonatal myopathy and hearing loss, with normal urinary lysylpyridinoline to[ncbi.nlm.nih.gov]

  • Ehlers-Danlos Syndrome Classic-Like Type 1

    dystonia Hypomimic face Glomerulosclerosis Abnormal globus pallidus morphology Rickets Nephrocalcinosis Paralysis Aciduria Abnormality of divalent inorganic cation homeostasis[mendelian.co] ) Type (EDS type VI) Progressive kyphoscoliosis, joint hypermobility, smooth, hyperelastic and fragile skin, muscular hypotonia and scleral fragility and rupture of the globe[uwcpdx.org] Pénisson-Besnier I et al. (2013) Compound heterozygous mutations of the TNXB gene cause primary myopathy. [ ] 6.[moldiag.com]

  • Fingerprint Body Myopathy

    […] polymicrogyria Early infantile epileptic encephalopathy 25 Duane syndrome type 1 Glycogen storage disease type 12 Rapid-onset dystonia-parkinsonism Limb-girdle muscular dystrophy[checkrare.com] CFTD is often associated with high arch palate, kyphoscoliosis, contracture, and a slightly increased serum creatine kinase (CK) level.[synapse.koreamed.org] […] fingerprint body myopathy.[medlink.com]

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