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371 Possible Causes for Hyperreflexia, Psychomotor Retardation, Spasticity - Hyperreflexia

  • Hallervorden-Spatz Syndrome

    Described features include 9,11 : progressive dementia extrapyramidal signs (rigidity, dystonia, choreoathetosis) corticospinal signs (spasticity, hyperreflexia) dysarthria[radiopaedia.org] Neurologically, opisthotonus, rigidity of extremities, dystonia, hyperreflexia, profound emaciation, and bilaterally positive Babinski signs were present.[ncbi.nlm.nih.gov] Spasticity, hyperreflexia, and other signs of corticospinal tract involvement are common and eventually limit ambulation.[ncbi.nlm.nih.gov]

  • Aromatic L-Amino Acid Decarboxylase Deficiency

    […] clinical features suggesting spasticity.[jn.nutrition.org] These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since[ncbi.nlm.nih.gov] Association of autonomic nervous hyperreflexia and systemic inflammation in patients with Crohn's disease and ulcerative colitis.[emedicine.medscape.com]

  • Infantile Neuroaxonal Dystrophy

    Clinical Onset before age three years Psychomotor regression (most common presenting feature) Early truncal hypotonia followed by spastic tetraparesis (usually with hyperreflexia[ncbi.nlm.nih.gov] […] weakness 0003324 Gliosis 0002171 Global developmental delay 0001263 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hyperactivity More active than typical 0000752 Hyperreflexia[rarediseases.info.nih.gov] .: Axonic and synaptic changes in a case of psychomotor retardation: An electron microscopic study. J. Neuropath. exp.[link.springer.com]

  • 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] retardation with or without seizures AR 13 13 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 5 5 IBA57 Multiple mitochondrial dysfunctions syndrome 3,[blueprintgenetics.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]

  • Alexander Disease

    hyperreflexia, positive Babinski sign, gait abnormality, and weakness, though individual-to-individual and intrafamilial variability is seen [ Graff-Radford et al 2014 ].[ncbi.nlm.nih.gov] While the infantile form presents with ataxia, hyperreflexia, and other upper motor neuron symptoms, none of these has been observed in the neonatal form.[ncbi.nlm.nih.gov] Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first[ncbi.nlm.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] […] drugs.Orpha Number: 100998Disease definitionA complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia[malacards.org] retardation [ 25 ].[omicsonline.org]

  • 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] retardation with or without seizures AR 13 13 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 5 5 IBA57 Multiple mitochondrial dysfunctions syndrome 3,[blueprintgenetics.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 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] There is intrauterine growth retardation and postnatally patients usually exhibit psychomotor delays and intellectual disabilities.[disorders.eyes.arizona.edu]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    UniProtKB/Swiss-Prot : 76 Spastic ataxia 3, autosomal recessive: A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia.[malacards.org] (c) 18q deletion syndrome Psychomotor retardation, poor muscle tone, short stature, and other symptoms become noticeable in infancy.[plaza.umin.ac.jp] Definition A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia.[uniprot.org]

  • 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] retardation [ 25 ].[omicsonline.org] […] limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus.[rarediseases.info.nih.gov]

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