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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).[] ( 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).[]

  • Schwartz-Jampel Syndrome

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

  • 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[] Category disease or phenotype associations Type phenotype Description Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis[] myopathy-cleft palate-malignant hyperthermia syndrome NATIVE AMERICAN MYOPATHY; NAM NATIVE AMERICAN MYOPATHY edit English Native American myopathy Human disease Myopathy,[]

  • 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[]

  • 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,[] American myopathy (NAM) is an autosomal recessive disorder characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis[] […] dwarfism Microcephaly Microcephaly Microcephaly a – Microcephaly l Microcephaly albinism digital anomalies syndrome Microcephaly autosomal dominant Microcephaly brachydactyly kyphoscoliosis[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

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

  • Oculo-Palato-Cerebral Syndrome

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

  • Ehlers-Danlos Syndrome

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

  • 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[] ) Type (EDS type VI) Progressive kyphoscoliosis, joint hypermobility, smooth, hyperelastic and fragile skin, muscular hypotonia and scleral fragility and rupture of the globe[] Pénisson-Besnier I et al. (2013) Compound heterozygous mutations of the TNXB gene cause primary myopathy. [ ] 6.[]

  • 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[] CFTD is often associated with high arch palate, kyphoscoliosis, contracture, and a slightly increased serum creatine kinase (CK) level.[] […] fingerprint body myopathy.[]

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