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553 Possible Causes for Generalized Dystonia, Myopathy, Skeletal Dysplasia

  • Schwartz-Jampel Syndrome

    dysplasia.[ncbi.nlm.nih.gov] Preoperative assessment Negative general anesthesia.[asja.eg.net] […] 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]

  • MELAS Syndrome

    Mordaunt and Ravi Savaririyan, Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to[doi.org] ; alternating with ataxia, dystonia, choreoathetosis and spastic paraplegia.[oatext.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]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy.[mendelian.co] 2 dystonia, focal/Meige syndrome 1 dystonia, generalized, adult onset, progressive 1 dystonia, generalized, childhood onset 1 dystonia, generalized, familial 1 dystonia,[msdiscovery.org] […] 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]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] hypoplasia CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA chondrodysplasia Blomstrand type Chondrodysplasia[rgd.mcw.edu] Alcohol dependence Insomnia Neuropathic pain Major depressive disorder Bipolar disorder Schizophrenia Generalized anxiety disorder Panic disorder Social anxiety disorder[csirnotes.com] Congenital fiber-type disproportion myopathy Congenital myopathy with excess of thin filaments Intermediate nemaline myopathy Severe congenital nemaline myopathy Typical[csbg.cnb.csic.es]

  • Chudley-Rozdilsky Syndrome

    [ncbi.nlm.nih.gov] We report two sporadic cases of a hitherto undescribed skeletal dysplasia with short stature and characteristic facies.[symptoma.com] […] type 1 (Hyperlordosis) Early-onset generalized dystonia (Hyperlordosis) Ehlers-Danlos syndrome, classic type (Hyperlordosis) Emery-Dreifuss muscular dystrophy (Hyperlordosis[144.217.79.236] Homepage Rare diseases Search Search for a rare disease Intellectual disability-myopathy-short stature-endocrine defect syndrome Disease definition Intellectual disability-myopathy-short[orpha.net]

  • Muscular Dystrophy-Dystroglycanopathy Type C7

    Primary bone dysplasia with decreased bone density Primary bone dysplasia with defective bone mineralization Primary bone dysplasia with disorganized development of skeletal[se-atlas.de] […] 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] […] body myopathy[se-atlas.de]

  • Scapuloperoneal Spinal Muscular Atrophy

    The pattern of expression was variable: the father showed a mild muscular involvement, while the son presented at birth skeletal dysplasia and a progressive course.[ncbi.nlm.nih.gov] Severe limb deficit Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia[orpha.net] […] and scapulo-peroneal myopathy.[genome.jp]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Rimoin DL: Ph enotype-Genotype Correlations in the Skeletal Dysplasias. 2nd Meeting Bone Dysplasia Society, Versailles 1995. 216.[yumpu.com] Achondrogenesis type 2 Autosomal dominant rhegmatogenous retinal detachment Czech dysplasia, metatarsal type Dysspondyloenchondromatosis Familial avascular necrosis of femoral head Generalized[csbg.cnb.csic.es] , Nonaka myopathy, Sialuria GUSB Mucopolysaccharidosis HCN4 Brugada syndrome, Sick sinus syndrome HFE Hemochromatosis HRAS Congenital myopathy with excess of muscle spindles[genda.com.ar]

  • Pfeiffer-Palm-Teller Syndrome

    […] brachydactyly Skeletal dysplasia epilepsy short stature Skeletal dysplasia orofacial anomalies Skeletal dysplasia San diego type Skeletal dysplasias Skeleto cardiac syndrome[sosu.us] […] 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] Primary bone dysplasia with decreased bone density Primary bone dysplasia with defective bone mineralization Primary bone dysplasia with disorganized development of skeletal[se-atlas.de]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    dysplasia terminology and diag nosis, and has proved of immense value to its users.[books.google.com] Alcohol dependence Insomnia Neuropathic pain Major depressive disorder Bipolar disorder Schizophrenia Generalized anxiety disorder Panic disorder Social anxiety disorder[csirnotes.com] OMIM : 57 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff[malacards.org]

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