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189 Possible Causes for Lower Limb Hyperreflexia

  • Congenital Muscular Dystrophy Type 1D

    Eur J Hum Genet. 2011 Apr;19(4):452-7. doi: 10.1038/ejhg.2010.212. Epub 2011 Jan 19. Abstract Mutation of the LARGE gene is the rarest of the six known genetic causes of α-dystroglycanopathy. We report further a family with MDC1D due to a complex genomic rearrangement that was not apparent on standard sequencing[…][ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 27

    limb spasticity lower limb hyperreflexia extensor plantar responses normal muscle strength more Genitourinary Bladder: spastic/hyperactive bladder Clinical features from[malacards.org] limb hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002395 7 impaired vibration sensation at ankles 59 32 hallmark (90%) Very frequent (99-80%) HP:0006938[malacards.org] Recessive Symptoms & Phenotypes for Spastic Paraplegia 27, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: dysarthria lower[malacards.org]

  • Autosomal Dominant Spastic Paraplegia Type 29

    Related phenotypes are lower limb hyperreflexia and babinski sign[malacards.org] […] spasticity Commonly - More than 50% cases Impaired proprioception Not very common - Between 30% and 50% cases Hiatus hernia Commonly - More than 50% cases Lower limb hyperreflexia[mendelian.co] […] common - Between 30% and 50% cases Neonatal hyperbilirubinemia Commonly - More than 50% cases Hyperreflexia in upper limbs Not very common - Between 30% and 50% cases Upper limb[mendelian.co]

  • Spastic Paraplegia - Precocious Puberty Syndrome

    limb hyperreflexia Peripheral axonal neuropathy Impaired vibratory sensation Impaired vibration sensation in the lower limbs Progressive spasticity Intellectual disability[mendelian.co] limb hyperreflexia Hypokinesia Global brain atrophy Mask-like facies Upper motor neuron dysfunction Pseudobulbar paralysis Apathy Eyelid apraxia T-cell lymphoma/leukemia[mendelian.co] limb stiffness, walking easy to fall, upstairs difficult, showing scissors gait, lower limb muscle tension, tendon hyperreflexia and pathological signs, such as Childhood[healthfrom.com]

  • Autosomal Dominant Spastic Paraplegia Type 8

    Get Update Overview Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting[diseaseinfosearch.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] HSP is generally classified as pure when lower limb spasticity and weakness, hyperreflexia, extensor-plantar responses, decreased vibration sense at the ankles, bladder dysfunction[omicsonline.org]

  • Autosomal Recessive Spastic Paraplegia Type 56

    Affiliated tissues include globus pallidus , and related phenotypes are lower limb hyperreflexia and babinski sign Disease Ontology : 12 A hereditary spastic paraplegia that[malacards.org] , lower-limb weakness and decreased vibration sensation 37 yrs, 22 – 60 yrs AD Uncomplicated KIAA0196 (SPG8) DNA Sequencing 25 – 42 yrs AR Uncomplicated/ Paraplegin (SPG7)[1pdf.net] HSP is generally classified as pure when lower limb spasticity and weakness, hyperreflexia, extensor-plantar responses, decreased vibration sense at the ankles, bladder dysfunction[omicsonline.org]

  • Hereditary Motor and Sensory Neuropathies

    Some MFN2 mutations produce optic atrophy and CMT neuropathy (HMSN6), while others display a combination of axonal neuropathy and lower limb hyperreflexia (HMSN V) (see Table[neupsykey.com]

  • Autosomal Recessive Spastic Paraplegia Type 20

    Other characteristics can include exaggerated reflexes (hyperreflexia) in the lower limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal abnormalities,[ghr.nlm.nih.gov] People with spastic paraplegia type 31 can also experience progressive muscle wasting (amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a decreased ability[ghr.nlm.nih.gov] limb spasticity, pyramidal weakness, hyperreflexia and hypertonic bladder involvement.[medicbind.com]

  • Autosomal Recessive Spastic Paraplegia Type 32

    […] of the lower limbs.[diseaseinfosearch.org] Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3.[omicsonline.org] […] difficulty walking cerebellar atrophy lower limb spasticity ankle clonus more Skeletal Feet: pes cavus Clinical features from OMIM: 611252 Human phenotypes related to Spastic[malacards.org]

  • Autosomal Dominant Spastic Paraplegia Type 10

    limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations[orpha.net] limb spasticity, pyramidal weakness, hyperreflexia and hypertonic bladder involvement.[medicbind.com] Other manifestations of pyramidal syndrome—hyperreflexia, clonus, and Babinski sign—were also present but only in the lower limbs.[journals.lww.com]

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