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60 Possible Causes for Hypertonicity of the Lower Limbs, Mental Retardation

  • Cerebral Palsy

    All had spasticity affecting predominantly the lower limbs, although 2 also had mild hypertonia and ataxia of the upper limbs.[ncbi.nlm.nih.gov] LBW and mental retardation ( 7 ).[web.archive.org] Pathophysiology of the corticospinal system and basal ganglia in cerebral palsy Corresponding Author E-mail address: pcheney@kumc.edu Smith Mental Retardation and Human Development[doi.org]

  • Hereditary Spastic Paraplegia

    […] and weakness - limited mainly to the lower extremities.[whonamedit.com] retardation and ichthyosis.[ncbi.nlm.nih.gov] The lower limb spasticity is the prominent finding on examination, particularly in the hamstrings, quadriceps, and ankles.[jnnp.bmj.com]

  • Warburg Micro Syndrome 3

    , hypertonic lower limbs with contractures, myoclonic seizures, and hypoplastic labia minora and clitoral hypoplasia.[bio2rdf.org] retardation, spastic diplegia, and hypogonadism.[malacards.org] Upper limbs are hypotonic and lower limbs hypertonic. Deep tendon reflexes are brisk. Pupil is atonic [Figure 2] .[pediatricneurosciences.com]

  • Spastic Paraplegia

    The lower limb spasticity is the prominent finding on examination, particularly in the hamstrings, quadriceps, and ankles.[jnnp.bmj.com] SPG14 Gene Unknown 3q27-q28 Unknown Complicated: polineuropathy, mental retardation.[scielo.br] Additional neurological abnormalities are hearing impairment, mental retardation and ataxia . What Are The Symptoms Of Hereditary Spastic Paraplegia?[epainassist.com]

  • Spastic Paraparesis-Deafness Syndrome

    […] bladder) and extensor plantar responses with weakness of a pyramidal distribution in the lower limbs.[ruralneuropractice.com] - - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM: 300534 ] P41229 non-pleiotropic VAR_022733 p.Leu731Phe Disease - - Mental retardation, X-linked[sbg.bio.ic.ac.uk] The lower limb spasticity is the prominent finding on examination, particularly in the hamstrings, quadriceps, and ankles.[jnnp.bmj.com]

  • X-linked Parkinsonism-Spasticity Syndrome

    The lower limb spasticity is the prominent finding on examination, particularly in the hamstrings, quadriceps, and ankles.[jnnp.bmj.com] Another synonymous mutation in the same exon, c.321C T (p.D107D), has a similar molecular defect of exon inclusion and causes X-linked mental retardation Hedera type (MRXSH[ncbi.nlm.nih.gov] retardation MEF2C 5q14.3, FOXG1 14q12 P396-SHANK2 Autism-spectrum disorder SHANK2 11q13.3 P398-CASK X-linked mental retardation and MICPCH CASK P408-ADLTE-LGI1 Autosomal[gen-diagnostics.com]

  • Hereditary Hyperekplexia

    The hypertonia, which is predominantly in the trunk and lower limbs, often diminishes during the first year of life, but the pathological startle response, which can provoke[doi.org] The common phenotypic effects of all ARHGEF9 mutations were mental retardation and epilepsy.[ncbi.nlm.nih.gov] , Molybdenum cofactor deficiency AD/AR 35 20 GRIA3 Mental retardation XL 12 23 GRIK2 Mental retardation, autosomal recessive 6 AR 2 7 GRIN1 Mental retardation, autosomal dominant[blueprintgenetics.com]

  • Diomedi-Bernardi-Placidi Syndrome

    […] bladder) and extensor plantar responses with weakness of a pyramidal distribution in the lower limbs.[ruralneuropractice.com] C Clinical test , R Research test , O OMIM , G GeneReviews C R O G Spastic paraplegia epilepsy mental retardation Clinical features Help List of clinical features of the condition[ncbi.nlm.nih.gov] Retardation Spasticity Syndrome; Ichthyosis Spastic Neurologic Mental Retardation Disorder; Congenital Ichthyosis Oligophrenia and Spastic Paresis Syndrome; Ichthyosis Oligophrenia[secure.ssa.gov]

  • Autosomal Recessive Spastic Paraplegia Type 64

    The lower limb spasticity is the prominent finding on examination, particularly in the hamstrings, quadriceps, and ankles.[jnnp.bmj.com] Volcke Ph, Dereymaeker AM, Fryns JP, Van den Berghe H: On the nosology of moderate mental retardation with special attention to X-linked mental retardation.[karger.com] mental retardation.[slidex.tips]

  • Autosomal Recessive Spastic Paraplegia Type 35

    The lower limb spasticity is the prominent finding on examination, particularly in the hamstrings, quadriceps, and ankles.[jnnp.bmj.com] Affected individuals have quadriplegia, motor aphasia, reduced vision, mild mental retardation, and sphincter disturbance. [27] Preliminary genotype-phenotype correlations[emedicine.medscape.com] […] sensory, Mental retardation AD/AR 63 42 KIF5A Spastic paraplegia AD 18 62 L1CAM Mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, Hydrocephalus[blueprintgenetics.com]

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