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1,129 Possible Causes for Generalized Dystonia, Lower Motor Neuron Signs - Later, Nerve Amplitudes of Peroneal Nerve Reduced

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    Conclusions MPAN is characterized by a juvenile‐onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment.[ingentaconnect.com] Early upper motor neuron signs (pyramidal signs, e.g. spasticity) are constant findings and are later followed by signs of lower motor neuron dysfunction (deep tendon reflex[malacards.org] Conclusions MPAN is characterized by a juvenile-onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment.[push-zb.helmholtz-muenchen.de]

  • Amyotrophic Lateral Sclerosis Type 5

    AB - Juvenile amyotrophic lateral sclerosis (ALS) is a form of chronic motor neuron disease characterized by combined upper and lower motor neuron symptoms and signs with[jhu.pure.elsevier.com] ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.[discovery.ucl.ac.uk] Of 16 motor nerves tested, five had reduced amplitudes of evoked motor compound muscle action potential (four in the deep peroneal and one in the median nerve).[academic.oup.com]

  • Ataxia-Oculomotor Apraxia Syndrome

    The median nerve was of low amplitude (4 mV, normal 5), with a reduced conduction velocity between elbow and wrist (39 m/s, normal 50).[academic.oup.com] . : Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation . Mov Disord 2003, 18 :1198–1200. PubMed CrossRef Google Scholar 35.[link.springer.com] Patient II-4 of family 3 presents, in addition to the clinical picture of AOA2, an unusual severe lower motor neuron impairment.[jamanetwork.com]

  • Oculomotor Apraxia

    Patient II-4 of family 3 presents, in addition to the clinical picture of AOA2, an unusual severe lower motor neuron impairment.[jamanetwork.com] . : Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation . Mov Disord 2003, 18 :1198–1200. PubMed CrossRef Google Scholar 35.[link.springer.com] The median nerve was of low amplitude (4 mV, normal 5), with a reduced conduction velocity between elbow and wrist (39 m/s, normal 50).[academic.oup.com]

  • Neurodegeneration with Brain Iron Accumulation

    […] as great as the benefit reported in patients with primary generalized dystonias or some other secondary dystonias.[ncbi.nlm.nih.gov] Here, we report three C19orf12-mutant patients from two families presenting with predominant upper and lower motor neuron dysfunction mimicking amyotrophic lateral sclerosis[ncbi.nlm.nih.gov] CONCLUSIONS: MPAN is characterized by a juvenile-onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment[ncbi.nlm.nih.gov]

    Missing: Nerve Amplitudes of Peroneal Nerve Reduced
  • Juvenile Primary Lateral Sclerosis

    El Escorial criteria for the diagnosis of amyotrophic lateral sclerosis 7 : it requires the presence of signs of lower motor neuron (LMN) degeneration by clinical, electrophysiological[radiopaedia.org] CONCLUSIONS: We report generalized dystonia and cerebellar signs in association with ALS2-related disease.[foundationdystoniaresearch.org] Lower motor neuron loss causes initially increased electrical excitability leading to fasciculations, and later muscle weakness and atrophy; upper motor neuron involvement[neuropathology-web.org]

    Missing: Nerve Amplitudes of Peroneal Nerve Reduced
  • X-linked Parkinsonism-Spasticity Syndrome

    , segmental region in upper limbs; mild course DYT-14 14q13 Dopa Responsive generalized dystonia Autosomal Dominant Early onset, leading to gait and postural abnormalities[cmdg.org] Lateral sclerosis is the loss of axons in the lateral columns of the spinal cord (the upper motor neurons of the corticospinal tracts).[britannica.com] Dystonia Focal, multifocal, segmental or generalized dystonia Idiopathic, genetic, and secondary dystonia Craniofacial dystonia (including blepharospasm, jaw dystonia, tongue[movementdisorders.us]

    Missing: Nerve Amplitudes of Peroneal Nerve Reduced
  • Adult-Onset Cervical Dystonia Type DYT23

    DYT1 dystonia typically presents as early onset, generalized dystonia, starting in the legs.[neupsykey.com] Multifocal dystonia affects many different parts of the body. Generalized dystonia affects most of the body, frequently involving the legs and back.[wikivisually.com] Autosomal-Dominant Forms of Primary Dystonia with Known Genetic Defect DYT1 Dystonia (Early-Onset Generalized Dystonia) Associated with TOR1A Gene Mutations In the 1990s the[neupsykey.com]

    Missing: Lower Motor Neuron Signs - Later Nerve Amplitudes of Peroneal Nerve Reduced
  • Autosomal Recessive Spastic Paraplegia Type 49

    ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 2014;82(12):1065-7.[books.google.com] Familial Amyotrophic Lateral Sclerosis (SOD1 Mutation) Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both the upper motor neurons[aetna.com] […] polymicrogyria Early infantile epileptic encephalopathy 25 Duane syndrome type 1 Glycogen storage disease type 12 Rapid-onset dystonia-parkinsonism Limb-girdle muscular dystrophy[checkrare.com]

    Missing: Nerve Amplitudes of Peroneal Nerve Reduced
  • Pallidopyramidal Syndrome

    Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord 1988;3:188-194. 9. McCann JD, Gauthier M, Morschbacher R, et al.[flandershealth.us] The patients also showed clinical and electrophysiological signs of upper and/or lower motor neuron degeneration.[karger.com] […] hypotonia Frontotemporal dementia Abnormal lower motor neuron morphology Visual hallucinations Focal dystonia Dyscalculia Motor neuron atrophy Extrapyramidal dyskinesia Milia[mendelian.co]

    Missing: Nerve Amplitudes of Peroneal Nerve Reduced

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