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385 Possible Causes for Brisk Reflexes, Progressive Peripheral Neuropathy

  • Metachromatic Leukodystrophy

    Contrary to the infantile form, deep tendon reflexes are usually brisk. There is also a milder adult form.[merckmanuals.com] Our patient has a progressive peripheral neuropathy but has apparently intact CNS function at her present age of 57 years.[ncbi.nlm.nih.gov] Signs of white matter involvement (spasticity, brisk tendon reflexes, extensor plantar responses) are prominent.[neuropathology-web.org]

  • Boucher-Neuhäuser Syndrome

    Familial transthyretin amyloidosis is characterized by a slowly progressive peripheral sensorimotor neuropathy and autonomic neuropathy as well as non-neuropathic changes[centogene.com] reflexes (Gordon Holmes syndrome).[wwww.unboundmedicine.com] The condition sometimes also affects the optic nerve and retina or causes cataracts, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and deafness 1, 2.[centogene.com]

  • Autosomal Dominant Spastic Paraplegia Type 31

    reflexes, with a bimodal age of onset of either childhood or adulthood ( 30 years).[orpha.net] Additional features include optic atrophy, later onset of sensorimotor peripheral neuropathy, and progressive joint contractures; cognition remains intact (summary by Melo[mendelian.co] 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]

  • Autosomal Recessive Spastic Paraplegia Type 18

    Diagnosis Genetic Instrumental testing Tests Examination leg muscles Brain and spine MRI Family feel stiff Rule out other history causes brisk reflexes any History relatives[slideshare.net] CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment.[genecards.org] Investigations also found the patient to have brisk tendon reflexes and clonus on elicitation. His 19-year-old sister showed milder symptoms.[cags.org.ae]

  • Lethal Ataxia with Deafness and Optic Atrophy

    Many of the disorders are associated with upper motor neuron signs such as brisk deep tendon reflexes, spasticity, and extensor plantar responses.[what-when-how.com] demyelinating peripheral neuropathy absent DTRs but bilateral upgoing toes are seen decreased nerve conduction velocities elevated CSF protein early on: CT shows increased[quizlet.com] Plantar responses remain normal while peripheral neuropathy and seizures are not consistent features. MRI imaging of the brain is normal.[disorders.eyes.arizona.edu]

  • Autosomal Recessive Spastic Paraplegia Type 39

    […] related disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia, upper motor neuron involvement manifesting as spasticity and/or brisk[ncbi.nlm.nih.gov] CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment.[genecards.org] Cerebellar ataxia, hypogonadotropic hypogonadism, and (to a variable degree) brisk reflexes [ Holmes 1907 ] Laurence-Moon syndrome.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 10

    Diagnosis Genetic Instrumental testing Tests Examination leg muscles Brain and spine MRI Family feel stiff Rule out other history causes brisk reflexes any History relatives[slideshare.net] Familial transthyretin amyloidosis is characterized by a slowly progressive peripheral sensorimotor neuropathy and autonomic neuropathy as well as non-neuropathic changes[centogene.com] HSP can be associated with brisk reflexes, extensor plantar reflexes, and urinary urgency (2).[dnatesting.uchicago.edu]

  • Peripheral Neuropathy

    Deep tendon reflexes are usually brisk, and muscle tone is spastic.[aafp.org] It is unclear whether CADASIL is involved in peripheral neuropathy.[ncbi.nlm.nih.gov] BACKGROUND: Even though chemotherapeutic regimens show considerable importance, it may cause progressive, continuing and sometimes irreversible peripheral neuropathy.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Ataxia Type 2

    Retained or brisk reflexes and spasticity are rarely features of FRDA except in atypical late-onset cases known as Friedreich’s ataxia with retained reflexes (FARR). 35 Cerebellar[acnr.co.uk] CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment.[genecards.org] This also results in brisk reflexes, extensor plantar reflexes, muscle weakness, and variable bladder disturbances.[ipfs.io]

  • Autosomal Recessive Spastic Paraplegia Type 21

    Diagnosis Genetic Instrumental testing Tests Examination leg muscles Brain and spine MRI Family feel stiff Rule out other history causes brisk reflexes any History relatives[slideshare.net] Familial transthyretin amyloidosis is characterized by a slowly progressive peripheral sensorimotor neuropathy and autonomic neuropathy as well as non-neuropathic changes[centogene.com] HSP can be associated with brisk reflexes, extensor plantar reflexes, and urinary urgency (2).[dnatesting.uchicago.edu]

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