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42 Possible Causes for Hypertonicity of the Lower Limbs, Mental Retardation, Sensation Normal

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent.[uniprot.org] limbs, hypertonic urinary bladder, and impaired vibration sense.[clinicalgate.com] retardation -Symptoms of abnormal muscle tone, impaired modulation of movement, presence of abnormal reflexes, and impaired mobility -Genetic abnormality consisting of an[quizlet.com]

  • Cerebral Palsy

    […] earlier than 18 months of age) For the mother Any adverse effects severe enough to stop treatment Postpartum haemorrhage (however reported by the trialists) Mode of birth (normal[doi.org] 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 ).[cdc.gov]

  • Hereditary Spastic Paraplegia

    Sensation was normal. Ophthalmological examination was normal.[scielo.br] […] and weakness - limited mainly to the lower extremities.[whonamedit.com] retardation and ichthyosis.[ncbi.nlm.nih.gov]

  • X-linked Parkinsonism-Spasticity Syndrome

    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] The lower limb spasticity is the prominent finding on examination, particularly in the hamstrings, quadriceps, and ankles.[jnnp.bmj.com] There was a mild impairment of vibration sense, but proprioception and superficial sensation were normal.[journals.plos.org]

  • Spastic Paraplegia

    SPG14 Gene Unknown 3q27-q28 Unknown Complicated: polineuropathy, mental retardation.[scielo.br] The lower limb spasticity is the prominent finding on examination, particularly in the hamstrings, quadriceps, and ankles.[jnnp.bmj.com] There was a mild impairment of vibration sense, but proprioception and superficial sensation were normal.[journals.plos.org]

  • Spastic Paraparesis-Deafness Syndrome

    There was a mild impairment of vibration sense, but proprioception and superficial sensation were normal.[journals.plos.org] […] 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]

  • Autosomal Recessive Spastic Paraplegia Type 64

    There was a mild impairment of vibration sense, but proprioception and superficial sensation were normal.[journals.plos.org] 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]

  • Pure Hereditary Spastic Paraplegia

    Weakness: Some patients Distal Hands & Feet Fasciculations Sensation: Normal or Reduced (Panmodal; Posterior column) Bladder: Often normal Progression Over few years or Slow[neuromuscular.wustl.edu] […] bladder) and extensor plantar responses with weakness of a pyramidal distribution in the lower limbs.[ruralneuropractice.com] The pure form is characterized by spasticity and gait difficulties but lacks the additional features (nystagmus, dysarthria, mental retardation) present in the complicated[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 56

    Weakness: Some patients Distal Hands & Feet Fasciculations Sensation: Normal or Reduced (Panmodal; Posterior column) Bladder: Often normal Progression Over few years or Slow[neuromuscular.wustl.edu] The lower limb spasticity is the prominent finding on examination, particularly in the hamstrings, quadriceps, and ankles.[jnnp.bmj.com] There was a mild impairment of vibration sense, but proprioception and superficial sensation were normal.[journals.plos.org]

  • Autosomal Recessive Spastic Paraplegia Type 39

    Vibration sense was described as normal at the ankles. Pinprick sensation was decreased in both feet.[academic.oup.com] limb spasticity, pyramidal weakness, hyperreflexia and hypertonic bladder involvement.[medicbind.com] retardation, stroke-like syndromes, tendon reflexes Muscle and/or fibroblasts: Lactate CoQ10 ( ) ADCK3 (CABC1) (606980) ADCK3 ARCA3 (613728) 23 y (6–43 y) Cerebellar ataxia[neupsykey.com]

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