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50 Possible Causes for Ataxia, Encephalomalacia, Limb Joint Contracture

  • Stroke

    In contrast, DWI remains elevated due to persistent high T2/FLAIR signal ( T2 shine through ), unless hemorrhage ( T2 blackout ) or cystic encephalomalacia 10.[radiopaedia.org] The first patient (female, 50 years old) had dysarthria, nystagmus and trunk ataxia on admission. Her blood alcohol level was 2.3‰.[ncbi.nlm.nih.gov] […] disuse of the limb with the use of splints or other tools to stabilize the joint.[en.wikipedia.org]

  • Cerebral Palsy

    Cystic encephalomalacia in the left temporal and parietal regions, delayed myelination, decreased white matter volume, and enlarged ventricles can be seen in this image.[emedicine.com] BACKGROUND: Ataxia-telangiectasia (A-T) is an autosomal recessive disease that consists of progressive cerebellar ataxia, variable immunodeficiency, sinopulmonary infections[ncbi.nlm.nih.gov] Physical indicators of spastic cerebral palsy include spastic paresis of multiple limbs and joint contractures , scissors gait, and persistence of primitive reflexes .[amboss.com]

  • Ataxic Cerebral Palsy

    Multicystic encephalomalacia of infancy: clinico-pathological report of 7 cases. J Neurol Sci. 1978 ; 38: 179 - 189.[doi.org] Damage to this area can bring about two specific types of ataxia: truncal ataxia and gait ataxia.[hiehelpcenter.org] It is characterized by underdeveloped limbs with contractures (characterized by rigidity of joints).[birthinjuryjustice.org]

  • Cerebellotrigeminal Dermal Dysplasia

    Pneumonia Hyperactivity Coloboma Iris coloboma Febrile seizures Leukopenia Breast carcinoma Aspiration pneumonia Stomatitis Reduced dihydropyrimidine dehydrogenase activity Encephalomalacia[mendelian.co] Ancillary Article Information Format Available Full text: PDF Request Permissions Keywords symmetrical scalp alopecia; craniosynostosis; cerebellar ataxia; rhombencephalosynapsis[onlinelibrary.wiley.com] A case of craniosynostosis with joint contractures, ear deformity, cleft palate , scoliosis, and many other features is presented. Paper-468214 .[ihop-net.org]

  • Autosomal Dominant Progressive External Ophthalmoplegia Type 6

    Thin skin Cerebral calcification Ranula Anxiety Depressivity Congenital cataract Insulin resistance Epididymal cyst Spinal dysraphism Epidermal nevus Hemimegalencephaly Encephalomalacia[mendelian.co] Low match SPINOCEREBELLAR ATAXIA TYPE 43 Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of[mendelian.co] Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement[mendelian.co]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    In time, the lesions evolve into cystic encephalomalacia with microcephaly. The diagnosis is made by PCR of CSF.[neuropathology-web.org] ataxia-deafness-narcolepsy syndrome West syndrome Adams-Oliver syndrome Anophthalmia / microphthalmia - esophageal atresia Colobomatous microphthalmia Cornelia de Lange syndrome[csbg.cnb.csic.es] Many have generalized lymphadenopathy. [1] Joint pain, knee valgus or varus, limb length differences are common.[autoinflammatory-search.org]

  • Bangstad Syndrome

    […] artery atherosclerosis Premature graying of hair Cavum septum pellucidum Congenital bilateral ptosis Impulsivity Dystonia Epidermal nevus Hemimegalencephaly Macrodactyly Encephalomalacia[mendelian.co] 0000853 Insulin-resistant diabetes mellitus Insulin resistant diabetes Insulin-resistant diabetes [ more ] 0000831 Pancytopenia Low blood cell count 0001876 Progressive cerebellar[rarediseases.info.nih.gov] Orpha Number: 1227 Disease definition Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia ,[rarediseases.info.nih.gov]

  • Emery-Dreifuss Muscular Dystrophy Type 2

    A region of encephalomalacia is noted in the right internal capsule. F ig 2.[ajnr.org] ataxia FLVCR1 Ataxia, posterior column, with retinitis pigmentosa FMR1 Premature ovarian failure FXN Friedreich ataxia GBA2 Cerebellar ataxia with spasticity GFAP Alexander[genda.com.ar] Reflexes were reduced in the upper limbs and absent in lower limbs. There were no joint contractures.[omicsonline.org]

  • Childhood-Onset Idiopathic Basal Ganglia Calcification

    Loss of brain substance and encephalomalacia of white matter result in severe cerebral atrophy.[rrnursingschool.biz] 13; SCA13 Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term).[mendelian.co] joint contracture ; Microcephaly ; Seizures ; Short stature ; Spasticity ; Tetraplegia Associated Genes - Mouse Orthologs - Source OMIM:114100 (names, synonyms, disease associated[mousephenotype.org]

  • Multiple Sclerosis

    ‘Medusa head ataxia’: The expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia.[journals.sagepub.com] […] ataxia, slapping foot) joint or muscle contractures neurological examination muscle spasticity increased deep tendon reflexes muscle weakness Babinski positive special tests[orthobullets.com] Abstract Based on one patient's enthusiastic report, eight patients with multiple sclerosis, seriously disabled with tremor and ataxia, were given oral tetrahydrocannabinol[ncbi.nlm.nih.gov]

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