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50 Possible Causes for Cognitive Developmental Delay, Optic Disc Pallor, Spastic Dystonia

  • Beta-Propeller Protein-Associated Neurodegeneration

    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] Ataxia, deformities, and bulbar dysfunction may be seen. [7] Ophthalmological abnormalities include nystgamus, strabismus, and optic disc pallor, suggestive of optic atrophy[annalsofian.org] Therapies to manage dystonia can include: Intramuscular botulinum toxin Botox is injected in spastic, dystonic muscles to help them relax for a period of time Oral Artane[nbiacure.org]

  • Congenital Muscular Dystrophy Type 1D

    […] of the optic discs, and retinal hypoplasia. 83 , 84 Walker-Warburg syndrome generally presents the most severe brain involvement and is lethal either prenatally or within[jamanetwork.com] […] translocase deficiency Carnosinemia Cerebral organic aciduria Cerebrotendinous xanthomatosis Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Childhood-onset spasticity[se-atlas.de] […] lissencephaly II–pachygyria and cerebellopontine hypoplasia, this syndrome presents with more severe ocular abnormalities including severe congenital myopia, congenital glaucoma, pallor[jamanetwork.com]

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    Ataxia, deformities, and bulbar dysfunction may be seen. [7] Ophthalmological abnormalities include nystgamus, strabismus, and optic disc pallor, suggestive of optic atrophy[annalsofian.org] Affected individuals have global developmental delay during childhood with slow motor and cognitive gains.[nbiaalliance.org] Spasticity, more prominent than dystonia, optic atrophy, motor neuropathy, and a slowly progressive course with cognitive decline help to differentiate MPAN from the other[malacards.org]

  • Infantile Dystonia - Parkinsonism

    delay manifest from early infancy.[annalsofian.org] Infantile-onset dystonia and juvenile parkinsonism associated with spastic paraplegia caused by mutations in SPG11. G. Yoon 1,2, B. Baskin 3, M. Tarnopolsky 4, P.[ashg.org] ., 2001, Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations, Neurology 56:260.[link.springer.com]

  • Globoid Cell Leukodystrophy

    Some physicians advocate earlier surgery for seizures in order to protect against refractory seizures, developmental delays, cognitive dysfunction, and hemiparesis.[rarediseases.org] Signs included pes cavus, optic disc pallor, progressive spastic tetraparesis, a sensorimotor demyelinating neuropathy and hypodense lesions in the parieto-occipital periventricular[ncbi.nlm.nih.gov] , dystonia, ataxia and peripheral neuropathy.[ncbi.nlm.nih.gov]

  • Infantile Choroidocerebral Calcification Syndrome

    Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Myopia and Optic disc pallor, related diseases and genetic[mendelian.co] delay Uncommon - Between 30% and 50% cases Cognitive impairment Uncommon - Between 30% and 50% cases Acrania Uncommon - Between 30% and 50% cases Accelerate your rare disease[mendelian.co] delay Strabismus Cognitive impairment SOURCES: OMIM MONDO MESH UMLS SCTID GARD ORPHANET More info about WAISMAN SYNDROME; WSMN Too many results?[mendelian.co]

  • Autosomal Recessive Mental Retardation 3

    Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 2006 ; 140 : 2063 – 2074. 3.[cambridge.org] disc pallor Very long chain fatty acid accumulation Abnormality of phytanic acid metabolism Abnormality of eye movement Horizontal nystagmus Slurred speech Hypometric saccades[mendelian.co] For many previously reported individuals movement disorders such as hypotonia, dystonia or spasticity have been described, as well.[ojrd.biomedcentral.com]

  • Autosomal Dominant Spastic Paraplegia Type 31

    Diseases related with Spasticity and Optic disc pallor In the following list you will find some of the most common rare diseases related to Spasticity and Optic disc pallor[mendelian.co] […] in the limbs and torticollis, spastic dysarthria, ophthalmoplegia, hypometric saccades, slow tongue Borderline TCC and cerebellar atrophy Dopa-responsive dystonia (DRD) is[movementdisorders.org] […] brain or spinal cord • Dopa-responsive dystonia • Adrenomyeloneuropathy and other leukodystrophies • Arginase deficiency • Multiple Sclerosis (MS) • Vitamin B12 deficiency[1pdf.net]

  • Intellectual Disability - Alacrima - Achalasia Syndrome

    Examination findings included reduced direct and consensual pupillary light response with bilateral pallor of the optic discs.[jnnp.bmj.com] […] 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] Autosomal dominant childhood-onset proximal spinal muscular atrophy Autosomal dominant complex spastic paraplegia Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal[sanfordresearch.org]

  • Spastic Ataxia with Congenital Miosis

    disc pallor Sensory axonal neuropathy Flexion contracture Limb muscle weakness Progressive spastic paraplegia Scoliosis Motor axonal neuropathy Violent behavior Inertia Exaggerated[mendelian.co] Cognitive and developmental delay is typically obvious by the time the child is 1-2 years of age. Spastic diplegia is much more common that tetraplegia.[rarediseasesnetwork.org] , Angelman syndrome , Ataxia spastic congenital miosis , Ataxia , Athetosis , Autonomic dysreflexia , Autonomic dystonia , Autosomal recessive spastic paraplegia , Bahemuka[wikidoc.org]

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