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273 Possible Causes for Lower Limb Hyperreflexia

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    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 of LARGE. Two sisters in a consanguineous family had moderate mental retardation and[…][ncbi.nlm.nih.gov]

  • 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] Affiliated tissues include globus pallidus, skin and bone, and related phenotypes are babinski sign and lower limb hyperreflexia Disease Ontology : 12 A hereditary 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] […] definition Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower[orpha.net] Showing of 38 100% of people have these symptoms Lower limb spasticity 0002061 80%-99% of people have these symptoms Distal lower limb amyotrophy 0008944 Lower limb hyperreflexia[rarediseases.info.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 6

    limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus.[orpha.net] limb hyperreflexia Overactive lower leg reflex 0002395 Spastic paraplegia 0001258 30%-79% of people have these symptoms Generalized tonic-clonic seizures Grand mal seizures[rarediseases.info.nih.gov] […] spastic paraplegia type 6 Disease definition A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower[orpha.net]

  • Autosomal Dominant Spastic Paraplegia Type 31

    […] in upper limbs 0007350 Impaired proprioception 0010831 Lower limb hyperreflexia Overactive lower leg reflex 0002395 Pes cavus High-arched foot 0001761 Proximal lower limb[rarediseases.info.nih.gov] Showing of 24 80%-99% of people have these symptoms Brisk reflexes 0001348 Proximal muscle weakness in lower limbs 0008994 Spastic gait Spastic walk 0002064 30%-79% of people[rarediseases.info.nih.gov] […] have these symptoms Difficulty running 0009046 Difficulty walking Difficulty in walking 0002355 Distal sensory impairment Decreased sensation in extremities 0002936 Hyperreflexia[rarediseases.info.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] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.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]

  • Autosomal Dominant Spastic Paraplegia Type 17

    Affiliated tissues include globus pallidus, skin and bone, and related phenotypes are babinski sign and lower limb hyperreflexia Disease Ontology : 12 A hereditary spastic[malacards.org] limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense.[malacards.org] […] disease Autosomal dominant spastic paraplegia type 17 Disease definition A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower[orpha.net]

  • Autosomal Dominant Spastic Paraplegia Type 37

    […] in upper limbs Muscle cramps Skeletal muscle atrophy Ankle clonus Lower limb hyperreflexia Impaired vibratory sensation Tremor Adult onset Limb ataxia Rare Symptoms - Less[mendelian.co] Affiliated tissues include globus pallidus, skin and bone, and related phenotypes are babinski sign and lower limb hyperreflexia Disease Ontology : 12 A hereditary spastic[malacards.org] limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower limbs Diminished vibratory sensation in the legs [ more ] 0002166 Lower limb[rarediseases.info.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 32

    : 58 Neurologic Central Nervous System: hyperreflexia difficulty walking cerebellar atrophy lower limb spasticity ankle clonus more Skeletal Feet: pes cavus Clinical features[malacards.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] 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]

  • Autosomal Dominant Spastic Paraplegia Type 13

    […] the cerebrospinal fluid 60 Excluded (0%) 24 abnormal lower-limb motor evoked potentials 60 Excluded (0%) 25 urinary incontinence 33 HP:0000020 26 lower limb hyperreflexia[malacards.org] 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]

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