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372 Possible Causes for Cognitive Developmental Delay, Generalized Dystonia

  • Paroxysmal Exertion-Induced Dyskinesia

    ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 2014;82(12):1065-7.[books.google.com] Dystonia Dystonia that occurs at rest may persist as the kinetic (clonic) form. Dystonias can be either focal or generalized.[encyclopedia.com] , segmental region in upper limbs; mild course DYT-14 14q13 Dopa Responsive generalized dystonia Autosomal Dominant Early onset, leading to gait and postural abnormalities[cmdg.org]

  • Early Infantile Epileptic Encephalopathy Type 2

    List of reported Symptoms of EIEE7 Seizures, tonic Seizures, clonic Generalized stiffening Automatisms (repetitive actions performed unconsciously) Delayed development Intellectual[kcnq2cure.org] Patients with a SYNGAP1 mutation have a developmental delay, cognitive regression and some patients have a autism.[molgen.ua.ac.be] developmental delay and intellectual disability.[ncbi.nlm.nih.gov]

  • Beta-Propeller Protein-Associated Neurodegeneration

    ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 2014;82(12):1065-7.[books.google.de] Jennifer and Brian Greene’s 3-year-old daughter Madison can’t walk on her own, has never spoken a single word, and has severe cognitive and developmental delays.[losangeles.cbslocal.com] Could also be an overall developmental delay Cognitive (mental) decline Can progress to dementia in adulthood Parkinsonism (symptoms similar to Parkinson’s disease) Typically[nbiacure.org]

  • Autosomal Recessive Spastic Paraplegia Type 49

    ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 2014;82(12):1065-7.[books.google.com] […] 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] Gleeson, CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.[hih-tuebingen.de]

  • Costello Syndrome

    In addition, patients exhibited more explicit dystonic features of the face, limbs and trunk and altered sensorimotor plasticity consistent with generalized dystonia.[ncbi.nlm.nih.gov] Hypotonia and developmental delay are typical in infancy, and mental retardation can be diagnosed in older patients.[ncbi.nlm.nih.gov] delay)/MR (mental retardation) (100%) Micah test gross motor, fine motor, and cognitively at about a 6y/o.[waltersfamily.wordpress.com]

  • Autosomal Recessive Spinocerebellar Ataxia 18

    In general, a careful clinical examination may narrow the differential diagnosis but not confirm a single entity due to phenotypic overlap.[clinicaladvisor.com] […] with Opitz/BBB syndrome are also characterized by developmental delay, ataxia, and midline abnormalities, including hypertelorism, cleft lip/palate, esophagolaryngotracheal[ajnr.org] […] causing abnormal posturing of the hands and neck. 23 Cognition is generally preserved particularly on tests of verbal function, but visuospatial handling may be diminished[acnr.co.uk]

  • Autosomal Recessive Spastic Paraplegia Type 20

    [primary TOR1A (DYT1)] G31.82 Leigh's disease G40.301 - G40.319 Generalized idiopathic epilepsy and epileptic syndromes [nonspecific myoclonic epileptic seizures (MERRF)[aetna.com] All the patients presented with short stature and dysarthria, and were delayed in reaching motor and cognitive developmental milestones.[cags.org.ae] […] disorder with cardiac arrhythmia 617173 604447 Autosomal recessive GNB5 15q21.2 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia 617182 604447[mnglabs.com]

  • Helsmoortel-van der Aa Syndrome

    […] hypotonia Ophthalmoparesis Memory impairment Parkinsonism Abnormality of movement Ophthalmoplegia Depressivity Rigidity Dystonia Behavioral abnormality Ptosis Jerky ocular[mendelian.co] To identify most (if not all) conditions with ID, we searched for entries with either “mental retardation” or “developmental delay”, “intellectual disability”, and “cognitive[f1000research.com] Acetazolamide & Phenytoin Cognition: Impaired Laboratory EEG: Generalized slowing CSF Glucose & Lactate: Low Hypomyelinating Leukodystrophy 6 (HLD6; HABC) Sporadic, ?[neuromuscular.wustl.edu]

  • Mitochondrial Complex 3 Deficiency

    […] limb-onset dystonia;DYT1; Dystonia musculorum deformans; EOTD; Early-onset generalized torsion dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Idiopathic[catalogue.rd-connect.eu] Amyotrophic lateral sclerosis 22 ORPHA803 G12.2 105400 Post-poliomyelitic syndrome 2 ORPHA2942 G14 Multiple system atrophy, cerebellar type 9 ORPHA227510 G23.8 258300 Early-onset generalized[catalogue.rd-connect.eu]

  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias.[ncbi.nlm.nih.gov] ADCY5-Associated Neurological Disease: A New Cause of Childhood-Onset Chorea and Dystonia In 2001, Fernandez and colleagues [75] reported a 5-generation family affected by[movementdisorders.org] [primary TOR1A (DYT1)] G31.82 Leigh's disease G40.301 - G40.319 Generalized idiopathic epilepsy and epileptic syndromes [nonspecific myoclonic epileptic seizures (MERRF)[aetna.com]

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