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83 Possible Causes for Generalized Dystonia, Lower Motor Neuron Signs - Later, Severe Spasticity

  • Amyotrophic Lateral Sclerosis Type 5

    Spastic paraplegia type 11 (SPG11) is the most common autosomal recessive spastic paraplegia.[theses.fr] 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]

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    The end stages of MPAN are characterized by severe dementia, spasticity, dystonia, and parkinsonism.[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.[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]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    Like previously described cases, the patient presented with severe spastic paraparesis and showed rapid progression of paresis to the upper limbs.[ncbi.nlm.nih.gov] […] 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]

  • Juvenile Primary Lateral Sclerosis

    During the second year of life, they lose the ability to walk (some patients never walk due to early severe spasticity) and then develop slowly progressive upper motor neuron[orpha.net] 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]

  • Neurodegeneration with Brain Iron Accumulation

    spastic paraplegia, was aphasic and demented, has died following a respiratory infection.[doi.org] […] 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]

  • X-linked Parkinsonism-Spasticity Syndrome

    spasticity should raise suspicion for an alternative diagnosis 43.[slideshare.net] , 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]

  • Spastic Quadriplegic Cerebral Palsy Type 2

    Methods: Sixteen patients from 11 families, originating from North Africa and Europe, who presented severe spastic paralysis and ascending progression were studied.[neurology.org] With significant dystonia/involuntary movements Dystonia and involuntary movements (specifically choreoathetosis) are not as common in CP as is generally believed.[adc.bmj.com] ALS is a progressive neurodegenerative disease involving both the upper motor neuron (UMN) and lower motor neuron (LMN).[cmm.ucsd.edu]

  • Autosomal Recessive Spastic Paraplegia Type 49

    This study showed that the p.Ala510Val mutation is prevalent amongst severe hereditary spastic paraparesis patients of UK.[antikoerper-online.de] 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]

  • Pallidopyramidal Syndrome

    spastic paraplegia.[cags.org.ae] 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]

  • Autosomal Recessive Spastic Paraplegia Type 35

    The spasticity is progressive, develops as a result of damage to nerve tissue and may be rather severe in nature.[ic.steadyhealth.com] […] causing abnormal posturing of the hands and neck. 23 Cognition is generally preserved particularly on tests of verbal function, but visuospatial handling may be diminished[acnr.co.uk] Familial Amyotrophic Lateral Sclerosis (SOD1 Mutation) Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both the upper motor neurons[aetna.com]

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