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68 Possible Causes for Hyperreflexia, Mutation in the REEP1 Gene, Spasticity - Hyperreflexia

  • Autosomal Dominant Spastic Paraplegia Type 31

    24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes[malacards.org] Recently, mutations in the REEP1 gene were identified to cause autosomal dominant HSP type SPG31.[bmcmedgenet.biomedcentral.com] Neurologic examination revealed hyperreflexia and spasticity in the lower extremities, weakness of hip flexion and ankle dorsiflexion, extensor plantar response, diminished[neurology.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] We describe a novel mutation of the REEP1 gene causing HSP.[journals.lww.com] […] paraplegia type 10 Disease definition A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia[orpha.net]

  • 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] People with this condition may also have hyperreflexia, decreased ability to feel vibrations, muscular atrophy and decreased bladder control.[ivami.com] Recently, mutations in the REEP1 gene were identified to cause autosomal dominant HSP type SPG31.[link.springer.com]

  • 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] Spastic paraplegia type 31 is caused by mutations in the REEP1 gene.[ghr.nlm.nih.gov] […] drugs.Orpha Number: 100998Disease definitionA complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia[malacards.org]

  • Autosomal Dominant Spastic Paraplegia Type 9A

    […] is a clinically and genetically heterogeneous disorder characterised by progressive spasticity, weakness and hyperreflexia of the lower limbs.[bmcmedgenet.biomedcentral.com] Hyperreflexia, extensor plantar response and increased muscle tone are the recognized UMN signs where as the weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations[explainmedicine.com] All patients had, by definition, hyperreflexia and spasticity of the lower limbs, while weakness was present in only 53.8%.[jamanetwork.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] Spastic paraplegia type 31 is caused by mutations in the REEP1 gene.[ghr.nlm.nih.gov] […] limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus.[rarediseases.info.nih.gov]

  • Hereditary Spastic Paraplegia

    […] by progressive spasticity and hyperreflexia of the lower limbs HSMN V familial spastic paraplegia Strümpell-Lorrain disease French settlement disease Strumpell-Lorrain disease[wikidata.org] We describe a novel mutation of the REEP1 gene causing HSP.[ncbi.nlm.nih.gov] Orthostatic intolerance, urinary symptoms, hyperreflexia in the biceps and knee jerk, and decreased proprioception in both limbs were observed on neurological examinations[ncbi.nlm.nih.gov]

  • 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] […] in the REEP1 gene on chromosome 2p11.[zfin.org] People with this disorder may also have hyperreflexia, spasms ankles, lifting arch and decreased bladder control.[ivami.com]

  • Autosomal Recessive Spastic Paraplegia Type 46

    Affiliated tissues include brain , and related phenotypes are nystagmus and hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in[malacards.org] More than 40 mutations have been reported in the REEP1 gene, and only one of them was associated with HMN5B.[centogene.com] The gait is spastic with weakness, hyperreflexia, and extensor plantar responses in the lower limbs. The upper limbs are variably involved and movements are dysmetric.[disorders.eyes.arizona.edu]

  • Autosomal Recessive Spastic Paraplegia Type 39

    Neurological examination also showed the classic spastic paraplegia symptoms such as proximal weakness of the lower limbs and profound proximal spasticity.[omicsonline.org] ) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by varying degrees of lower limb spasticity, pyramidal weakness, hyperreflexia[medicbind.com] Spastic paraplegia type 31 is caused by mutations in the REEP1 gene.[ghr.nlm.nih.gov]

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