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1,312 Possible Causes for Caused by Mutation in the Senataxin Gene, Hyperactive Brainstem Reflexes, Spastic Paralysis

  • Upper Motor Neuron Disease

    There are also rare progressive, autosomal recessive upper motor neuron degenerations (Infantile –Onset Ascending Hereditary Spastic Paralysis, Juvenile Primary Lateral Sclerosis[neuropathology-web.org] Signs: Upper Motor Neuron Lesion findings Muscle group weakness (not complete paralysis) Minimal muscle atrophy "Clasp-knife" spasticity Initial resistance to motion is strongest[fpnotebook.com] […] degeneration of the UMNs and LMNs, culminating in respiratory paralysis.[emedicine.medscape.com]

    Missing: Caused by Mutation in the Senataxin Gene
  • Amyotrophic Lateral Sclerosis Type 4

    Infantile-onset ascending spastic paralysis (IAHSP) [MIM:607225]: Characterized by progressive spasticity and weakness of limbs. {ECO:0000269 PubMed:12145748}.[genecards.org] […] tendon reflexes, and Babinski signs.[neuropathology-web.org] paralysis AR 33 68 ANG Amyotrophic lateral sclerosis AD 8 37 ATL1 Spastic paraplegia, Neuropathy, hereditary sensory AD 29 84 BSCL2 Lipodystrophy, congenital generalized,[blueprintgenetics.com]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    Infantile Ascending Hereditary Spastic Paralysis - How is Infantile Ascending Hereditary Spastic Paralysis abbreviated?[acronyms.thefreedictionary.com] […] tendon reflexes, and Babinski signs.[neuropathology-web.org] IAHSP stands for "Infantile-onset ascending hereditary spastic paralysis" How to abbreviate Infantile-onset ascending hereditary spastic paralysis?[allacronyms.com]

    Missing: Caused by Mutation in the Senataxin Gene
  • Juvenile Primary Lateral Sclerosis

    Differential diagnosis Differential diagnoses include the allelic disorders juvenile amyotrophic lateral sclerosis and infantile-onset ascending hereditary spastic paralysis[orpha.net] […] tendon reflexes, and Babinski signs.[neuropathology-web.org] Disease Type of connection Autosomal recessive spastic paraplegia type 18 Infantile-onset ascending hereditary spastic paralysis Juvenile amyotrophic lateral sclerosis Recessive[csbg.cnb.csic.es]

    Missing: Caused by Mutation in the Senataxin Gene
  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    Infantile-onset ascending hereditary spastic paralysis (IAHSP) is characterized by the following features [ Lesca et al 2003 ]: Onset of spasticity with increased reflexes[cmm.ucsd.edu] It is caused by a mutation in the senataxin gene found on chromosome 9q34. 41, 139 The senataxin protein is known to have a role in RNA processing. 41 Sporadic Amyotrophic[clinicalgate.com] […] tendon reflexes, and Babinski signs.[neuropathology-web.org]

  • Motor Neuron Disease

    There are also rare progressive, autosomal recessive upper motor neuron degenerations (Infantile –Onset Ascending Hereditary Spastic Paralysis, Juvenile Primary Lateral Sclerosis[neuropathology-web.org] […] by a toxic gain of function of the mutated senataxin protein.[doi.org] […] degeneration of the UMNs and LMNs, culminating in respiratory paralysis.[emedicine.medscape.com]

  • Stroke

    Cerebral hemisphere infarcts may cause: Contralateral hemiplegia which is initially flaccid (floppy limb, falls like a dead weight when lifted) and then becomes spastic.[patient.info] Posterior circulation ischaemia [ 1 ] : Motor deficits (weakness, clumsiness, or paralysis of any combination of arms and legs, up to quadriplegia, sometimes changing from[patient.info]

    Missing: Caused by Mutation in the Senataxin Gene Hyperactive Brainstem Reflexes
  • Pseudobulbar Palsy

    […] neurons; characterized by speech and swallowing difficulties, emotional instability, and spasmodic, mirthless laughter. pseudobulbar palsy Pseudobulbar paralysis, spastic[medical-dictionary.thefreedictionary.com] brainstem reflexes (eg, jaw jerk), the dissociation of automatic and volitional movements of the bulbar muscles with preservation of automatic movements, and the absence[medlink.com] Pseudobulbar palsy is a clinical syndrome of dysarthria, dysphagia, a hyperactive gag reflex and labile emotional responses.[radiopaedia.org]

    Missing: Caused by Mutation in the Senataxin Gene
  • Primary Progressive Multiple Sclerosis

    Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty[icdlist.com] Later symptoms may include: Fatigue Muscle spasticity and stiffness Tremors Paralysis Pain Vertigo Speech or swallowing difficulty Loss of bowel and bladder control Incontinence[medical-dictionary.thefreedictionary.com]

    Missing: Caused by Mutation in the Senataxin Gene Hyperactive Brainstem Reflexes
  • Autosomal Recessive Spastic Paraplegia Type 20

    Reid Published 2014 in Journal of Neurology DOI: 10.1007/s00415-014-7598-y The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic paralysis[pdfs.semanticscholar.org] […] by mutations to the SETX gene (9q34.13), which codes for senataxin, a helicase involved in DNA transcription and repair and the processing of several types of RNA. 35 The[elsevier.es] Hereditary spastic paralysis, infantile onset ascending 0 *Spastic Paraplegia, Hereditary.[reference.md]

    Missing: Hyperactive Brainstem Reflexes

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