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23 Possible Causes for Lower Limb Vibratory Sense Decreased, Severe Phenotype, Spasticity - Hyperreflexia

  • Autosomal Dominant Spastic Paraplegia Type 8

    24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes[malacards.org] Symptoms include hyperreflexia, extensor plantar responses, degeneration of the lateral corticospinal tracts, decreased vibratory sense in the lower limbs, pes cavus and atrophy[cags.org.ae] severity or age at onset.[academic.oup.com]

  • Autosomal Dominant Spastic Paraplegia Type 13

    Hereditary spastic paraplegia 8 (SPG8) is a pure hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of the lower limbs (i.e., hyperreflexia[ncbi.nlm.nih.gov] Symptoms include hyperreflexia, extensor plantar responses, degeneration of the lateral corticospinal tracts, decreased vibratory sense in the lower limbs, pes cavus and atrophy[cags.org.ae] The disease may be caused by mutation in MFN2 and BSCL2 (associated with several phenotypes: CMT-2, Dhmn, Silver Syndrome [spastic-paraplegia with hand amyotrophy] and pure[sudanmedicalmonitor.org]

  • Autosomal Dominant Spastic Paraplegia Type 10

    ) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar[orpha.net] Interestingly, the patients in 7/8 families had a complex phenotype, with peripheral neuropathy, severe upper limb amyotrophy (Silver syndrome-like), mental impairment, parkinsonism[ncbi.nlm.nih.gov] limbs Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower[rarediseases.info.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 17

    Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes more Clinical features from OMIM: 607584 UMLS symptoms related to Spastic Paraplegia[malacards.org] limbs Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower[rarediseases.info.nih.gov] […] of pure HSP, although the phenotype is relatively severe.[jnnp.bmj.com]

  • Autosomal Dominant Spastic Paraplegia Type 6

    […] usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder[orpha.net] limbs Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower[rarediseases.info.nih.gov] […] of pure HSP, although the phenotype is relatively severe.[jnnp.bmj.com]

  • Autosomal Dominant Spastic Paraplegia Type 4

    Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia[ncbi.nlm.nih.gov] sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower limbs Diminished vibratory sensation in the legs [ more ] 0002166[rarediseases.info.nih.gov] […] of pure HSP, although the phenotype is relatively severe.[jnnp.bmj.com]

  • Autosomal Recessive Spastic Paraplegia Type 7

    , hyperreflexia, lower-limb weakness and decreased vibration sensation 37 yrs, 22 – 60 yrs AD Uncomplicated KIAA0196 (SPG8) DNA Sequencing 25 – 42 yrs AR Uncomplicated/ Paraplegin[1pdf.net] Clinical features of the disease include lower limb spasticity and weakness, spastic ataxic gait, hyperreflexia, extensor plantar responses, pyramidal signs, decreased vibratory[link.springer.com] We identified 14 previously unreported mutations and detected a high recurrence rate of several earlier reported mutations.[hspersunite.org.au]

  • Autosomal Dominant Spastic Paraplegia Type 36

    Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes more Clinical features from OMIM: 607584 UMLS symptoms related to Spastic Paraplegia[malacards.org] severity or age at onset.[academic.oup.com] The essential clinical findings are slowly progressive and often include severe spasticity, hyperreflexia, and weakness in a pyramidal distribution, noticeably in both lower[emedicine.medscape.com]

  • Autosomal Dominant Spastic Paraplegia Type 19

    […] paraplegia 8 is a neurologic disorder characterized by severe lower limb spasticity and weakness.[cags.org.ae] […] genetic factors that cause and modify the severity of the phenotype.[wjgnet.com] Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness,[centogene.com]

  • Autosomal Dominant Spastic Paraplegia Type 12

    OMIM : 58 Spastic paraplegia-12 is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties[malacards.org] [from OMIM:182601 ; 15.06.30] Cellular phenotype and pathology Molecular information SPAST encodes an ATP-dependent microtubule severing protein and is a member of the AAA[flybase.org] Neurologic examination revealed hyperreflexia and spasticity in the lower extremities, weakness of hip flexion and ankle dorsiflexion, extensor plantar response, diminished[neurology.org]

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