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465 Possible Causes for Psychomotor Regression

  • Alexander Disease

    She showed psychomotor regression and a history of seizures, in addition to pendular nystagmus, dysarthria, spastic gait, and bladder dysfunction.[] regression and death.[] Urgent head computed tomography (CT) showed calcification in the subcortical and cortical regions, which may relate to the psychomotor regression and history of seizures.[]

  • Mucopolysaccharidosis

    Progression varies from a severe form (MPS2, severe form) with early psychomotor regression to an attenuated form (MPS2, attenuated form) which manifests without cognitive[]

  • Neuronal Ceroid Lipofuscinosis

    regression, seizures and diffuse brain atrophy.[] Clinical picture of neuronal ceroid lipofuscinosis with late infantile onset (LINCL) is characterized by myoclonic seizures and psychomotor regression.[] A 7 years-old female patient with normal development until the age 12 months, developed Rett like clinical picture (psychomotor regression, microcephaly, stereotypic hands[]

  • Mucopolysaccharidosis 2

    Progression varies from a severe form (MPS2, severe form) with early psychomotor regression to an attenuated form (MPS2, attenuated form) which manifests without cognitive[] Central nervous system involvement depends on the form and may include learning difficulties and psychomotor regression.[]

  • Kohlschütter-Tönz Syndrome

    All affected individuals show a psychomotor regression after onset of epilepsy or a developmental delay from birth on.[] Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta.[] Kohlschütter-Tönz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect with yellow or brownish discoloration of the teeth.[]

  • Gaucher Disease

    If you or a loved one has been diagnosed with Gaucher disease (pronounced go-SHAY), know that you are not alone. Gaucher disease affects up to 1 in 40,000 live births in the general population. What Is Gaucher Disease? Gaucher disease is one of the most common lysosomal storage disorders and results from not[…][]

  • Mucopolysaccharidosis 1

    Most patients have shown an arrest or slowing down of psychomotor regression. However, dysostosis multiplex has progressed.[]

  • Alpers Syndrome

    regression.[] At 3 years of age she progressively developed refractory mixed type seizures including a focal component and psychomotor regression which fulfilled the criteria of Alpers[] Definition Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression[]

  • Mucopolysaccharidosis 3

    Summary Epidemiology The disorder is underdiagnosed (due to the generally very mild dysmorphism); it is the most frequent MPS in the Netherlands and Australia with respective prevalences of 1/53 0000 and 1/67 000. The frequency of the different subtypes varies between countries: subtype A is more frequent in[…][]

  • COASY Protein-Associated Neurodegeneration

    Atypical NAD • Onset before age 20 years • Psychomotor regression • Prominent expressive language difficulties and autistic-like behavior,diminished social interaction • Gait[] . • Predominant features: • Median age of onset: 1yr (5 m to 2.5 yrs) • Psychomotor regression (most common presenting feature) • Optic atrophy, Nystagmus, Strabismus • Characteristic[]

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