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26 Possible Causes for Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation, Spastic Gait

  • Autosomal Dominant Spastic Paraplegia Type 42

    onset, usually within the first or second decades of life.[jamanetwork.com] […] by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased[orpha.net] CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin[slc.bioparadigms.org]

  • Tay-Sachs Disease

    Late-onset Tay-Sachs disease (chronic form) is a rare variant phenotype with appearance of first symptoms during the second or third decade of life. 4 A juvenile form is also[doi.org] They develop cognitive, motor, speech, and swallowing difficulties; unsteadiness of gait ( ataxia), and spasticity.[cs.mcgill.ca] The patients was a 3-year-old boy with psychomotor retardation and attacked by seizures since 8 months of age. On funduscopy, the maculla presented a cherry-red spot.[ncbi.nlm.nih.gov]

  • Hallervorden-Spatz Syndrome

    There is an early onset classic form with symptoms of extrapyramidal disease beginning in the first decade of life and rapid progression to loss of ambulation in about 15[disorders.eyes.arizona.edu] Each patient had spastic gait, dysarthria, dystonic posturing of both arms and generalized hyperreflexia, but no Kayser-Fleischer rings or retinitis pigmentosa.[ncbi.nlm.nih.gov] gait. 6 We report here the first case of iron overload related to acquired aceruloplasminemia in a patient suffering from copper deficiency.[bloodjournal.org]

  • Hereditary Spastic Paraplegia

    Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] For many subjects with an ATL1 mutation, spastic gait begins in early childhood and does not significantly worsen, even over many years; such cases resemble spastic diplegic[ncbi.nlm.nih.gov] Retardation and Characteristic Facies 2 AR 616801 Mast Syndrome AR 248900 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type XL 300534 Neuropathy, Hereditary Sensory[preventiongenetics.com]

  • Autosomal Dominant Spastic Paraplegia Type 10

    onset, usually within the first or second decades of life.[jamanetwork.com] gait Spastic walk 0002064 Spastic paraplegia 0001258 Urinary bladder sphincter dysfunction 0002839 Urinary incontinence Loss of bladder control 0000020 Showing of 38 Last[rarediseases.info.nih.gov] retardation with or without seizures AR 13 13 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 5 5 IBA57 Multiple mitochondrial dysfunctions syndrome 3,[blueprintgenetics.com]

  • Huntington's Disease

    However, in some families a juvenile form of HD has been seen with an onset of symptoms in the first or second decades of life.[encyclopedia.com] At age 48, rigidity and spastic gait were observed. One year later, choreoathetoid involuntary movements became apparent.[ncbi.nlm.nih.gov] All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 7

    Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] Children with very early onset may have relatively non-progressive spastic gait. 6 yrs, 2 – 50 yrs AD Uncomplicated/ Complicated Atlastin (SPG3A) DNA Sequencing Mainly pure[1pdf.net] retardation; the late childhood form causes poor coordination, gait and language acquisition disorders, and gelastic cataplexy; the juvenile form causes ataxia, epilepsy,[elsevier.es]

  • Spastic Paraplegia

    Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] […] by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with[orpha.net] Retardation and Characteristic Facies 2 AR 616801 Mast Syndrome AR 248900 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type XL 300534 Neuropathy, Hereditary Sensory[preventiongenetics.com]

  • Spastic Paraparesis-Deafness Syndrome

    Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] SPG4 is characterized by insidiously progressive bilateral lower-limb gait spasticity.[centogene.com] retardation with or without seizures AR 13 13 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 5 5 IBA57 Multiple mitochondrial dysfunctions syndrome 3,[blueprintgenetics.com]

  • Autosomal Dominant Spastic Paraplegia Type 33

    onset, usually within the first or second decades of life.[jamanetwork.com] The genes and proteins in these subgroups... more Hereditary spastic paraplegias (HSPs) are genetically heterogeneous Mendelian disorders characterized by spastic gait with[scinapse.io] CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin[slc.bioparadigms.org]

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