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

  • Congenital Muscular Dystrophy

    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] Central nervous system (CNS) abnormalities associated with mental retardation are often present.[ncbi.nlm.nih.gov]

  • 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] This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities.[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] clonus Abnormal rhythmic movements of ankle 0011448 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual[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]

  • 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] clonus These signs are followed by: Progressive neurodegeneration Seizures Blindness, typically by the end of the 8th month of life Spasticity of the limbs An increase in[en.wikibooks.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]

  • Autosomal Dominant Spastic Paraplegia Type 42

    onset, usually within the first or second decades of life.[jamanetwork.com] […] flexion 4 3 1.5 2.5 5 Ankle extention 3.5 3.5 1.5 2 5 Toes 3 3 1 1.5 3 Muscle wasting - - Hyperactive reflexes: Knee Ankle Clonus - Babinski sign bilateral no bilateral bilateral[bmcneurol.biomedcentral.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]

  • 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] clonus and upgoing toes.[mdsabstracts.org] 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] 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]

  • 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] Ankle clonus, and extensor plantar responses are uniformly present. 41. Hoffman sign may be observed. 42.[slideshare.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]

  • Proximal Myopathy with Extrapyramidal Signs

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

  • 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] There was increased muscle tone in the hamstring group and in the ankle region, positive patellar clonus and Babinski's sign, brisk deep tendon reflexes, wasting of distal[ruralneuropractice.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]

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