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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.[] The first patient (female, 50 years old) had dysarthria, nystagmus and trunk ataxia on admission. Her blood alcohol level was 2.3‰.[] […] disuse of the limb with the use of splints or other tools to stabilize the joint.[]

  • 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.[] BACKGROUND: Ataxia-telangiectasia (A-T) is an autosomal recessive disease that consists of progressive cerebellar ataxia, variable immunodeficiency, sinopulmonary infections[] Physical indicators of spastic cerebral palsy include spastic paresis of multiple limbs and joint contractures , scissors gait, and persistence of primitive reflexes .[]

  • Ataxic Cerebral Palsy

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

  • Cerebellotrigeminal Dermal Dysplasia

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

  • 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[] 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[] Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement[]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

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

  • Bangstad Syndrome

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

  • Emery-Dreifuss Muscular Dystrophy Type 2

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

  • Childhood-Onset Idiopathic Basal Ganglia Calcification

    Loss of brain substance and encephalomalacia of white matter result in severe cerebral atrophy.[] 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).[] joint contracture ; Microcephaly ; Seizures ; Short stature ; Spasticity ; Tetraplegia Associated Genes - Mouse Orthologs - Source OMIM:114100 (names, synonyms, disease associated[]

  • Multiple Sclerosis

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

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