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19 Possible Causes for Clonus, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • Tay-Sachs Disease

    […] attentiveness Increased startle response A cherry red spot of the fovea centralis of the macula of the retina can be seen in 90% of cases Hyperreflexia with sustained ankle clonus[en.wikibooks.org] 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] 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]

  • Spastic Paraplegia

    This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities.[ncbi.nlm.nih.gov] Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] 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]

  • Congenital Muscular Dystrophy

    Calf pseudohypertrophy may resemble that seen in Duchenne muscular dystrophy CNS malformation and abnormal white matter: may be evident as: Pyramidal signs (hyperreflexia, clonus[ncbi.nlm.nih.gov] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[ncbi.nlm.nih.gov]

  • 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] Jumping feet (clonus). Clonus is an uncontrollable, repetitive jerking of muscles that makes the foot jump rapidly up and down.[host.web-print-design.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 10

    […] lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower limbs Diminished vibratory sensation in the legs [ more ] 0002166 Knee clonus[rarediseases.info.nih.gov] onset, usually within the first or second decades of life.[jamanetwork.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 42

    onset, usually within the first or second decades of life.[jamanetwork.com] Our patient presented typical spasticity with hyperreflexia, clonus and the resulting gait disorder found in the “pure” form.[journals.lww.com] CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin[slc.bioparadigms.org]

  • Hereditary Spastic Paraplegia

    These include presence of clonus, undeveloped speech, and sleep disturbances. Our findings extend the phenotypic spectrum associated with the TFG mutations in HSP.[ncbi.nlm.nih.gov] Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] 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 Recessive Spastic Paraplegia Type 7

    Examination revealed normal strength, diffuse hyperreflexia in the arms and legs, bilateral positive Hoffmann’s reflexes, increased spastic tone in the legs with bilateral ankle clonus[mdsabstracts.org] Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] retardation; the late childhood form causes poor coordination, gait and language acquisition disorders, and gelastic cataplexy; the juvenile form causes ataxia, epilepsy,[elsevier.es]

  • Paraplegia

    Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] […] characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus[orpha.net] 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]

  • Proximal Myopathy with Extrapyramidal Signs

    Ankle clonus may be present, and it develops into a spastic, foot dragging 'shoe-scuffing' gait.[patient.info] The prognosis is most favorable when the onset of symptoms occurs after the second decade of life.[intranet.tdmu.edu.ua] A subacute form begins during early childhood with vomiting, hypotonia, growth and psychomotor retardation.[pliem.co.za]

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