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61 Possible Causes for Babinski Sign, Generalized Dystonia, Lower Motor Neuron Signs - Later

  • 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] sign Dysarthria Iron accumulation observed on brain MRI in both the globus pallidus and substantia nigra ( Figure 1B ).[ncbi.nlm.nih.gov]

  • Juvenile Primary Lateral Sclerosis

    CONCLUSIONS: We report generalized dystonia and cerebellar signs in association with ALS2-related disease.[foundationdystoniaresearch.org] 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] Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign.[en.wikipedia.org]

  • Amyotrophic Lateral Sclerosis Type 5

    ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.[discovery.ucl.ac.uk] 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] The Babinski sign was present in the right side.[atm.amegroups.com]

  • 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] Showing of 32 100% of people have these symptoms Parkinsonism 0001300 30%-79% of people have these symptoms Abnormal autonomic nervous system physiology 0012332 Babinski sign[rarediseases.info.nih.gov]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    […] bulbospinal muscular atrophy Generalized epilepsy with febrile seizures-plus Generalized epilepsy-paroxysmal dyskinesia syndrome Generalized isolated dystonia Genetic central[se-atlas.de] 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] sign 0003487 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Infantile onset Onset in first year of life Onset in infancy [ more[rarediseases.info.nih.gov]

  • Distal Hereditary Motor Neuropathy Type 1

    […] bulbospinal muscular atrophy Generalized epilepsy with febrile seizures-plus Generalized epilepsy-paroxysmal dyskinesia syndrome Generalized isolated dystonia Genetic central[se-atlas.de] neuron disorders presenting with variable combination of upper and lower motor neuron signs.[journals.plos.org] Charcoat (left) & Babinski at the Salpêtrière clinic 22.[slideshare.net]

  • Autosomal Recessive Spastic Paraplegia Type 27

    [primary TOR1A (DYT1)] G31.82 Leigh's disease G40.301 - G40.319 Generalized idiopathic epilepsy and epileptic syndromes [nonspecific myoclonic epileptic seizures (MERRF)[aetna.com] sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487 4 dysdiadochokinesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002075 5 spastic paraplegia 59 32 hallmark[malacards.org] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org]

  • Autosomal Recessive Spastic Paraplegia Type 20

    [primary TOR1A (DYT1)] G31.82 Leigh's disease G40.301 - G40.319 Generalized idiopathic epilepsy and epileptic syndromes [nonspecific myoclonic epileptic seizures (MERRF)[aetna.com] sign 0003487 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [3] This gene[rarediseases.info.nih.gov] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org]

  • Autosomal Recessive Spastic Paraplegia Type 26

    [primary TOR1A (DYT1)] G31.82 Leigh's disease G40.301 - G40.319 Generalized idiopathic epilepsy and epileptic syndromes [nonspecific myoclonic epileptic seizures (MERRF)[aetna.com] Showing of 37 30%-79% of people have these symptoms Babinski sign 0003487 Cerebral cortical atrophy Decrease in size of the outer layer of the brain due to loss of brain cells[rarediseases.info.nih.gov] Achilles and brachioradialis reflexes were absent, but Babinski sign was present. Distal muscles in the lower limbs were atrophic, and gait was spastic ataxic.[docplayer.net]

  • Autosomal Dominant Spastic Paraplegia Type 17

    Gleeson, CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.[hih-tuebingen.de] Familial Amyotrophic Lateral Sclerosis (SOD1 Mutation) Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both the upper motor neurons[aetna.com] Affiliated tissues include globus pallidus, skin and bone, and related phenotypes are babinski sign and lower limb hyperreflexia Disease Ontology : 12 A hereditary spastic[malacards.org]

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