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87 Possible Causes for Generalized Dystonia, Lower Motor Neuron Signs - Later, Peripheral Neuropathy

  • 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] With the clinical background of infantile-onset neuroregression with optic atrophy, sensorineural hearing loss, and features of peripheral neuropathy, we further investigated[annalsofian.org]

  • 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] neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with[moh-it.pure.elsevier.com]

  • Paraneoplastic Syndrome

    Movement disorders include oro-lingual-facial dyskinesias, generalized chorea, oculogyric crisis, dystonia, and rigidity.[clinlabnavigator.com] […] sclerosis Definition / general: Rarely caused by breast cancer 50% develop lower motor neuron signs eventually Retinal degeneration Definition / general: Destruction of photoreceptors[pathologyoutlines.com] Abstract POEMS (peripheral neuropathy, organomegaly, endocrinopathy, M protein, skin changes) syndrome is a rare multisystem paraneoplastic disorder.[ncbi.nlm.nih.gov]

  • Ischemic Peripheral Neuropathy

    Generalized dystonia (e.g., dystonia musculorum deformans) is an inherited condition in which persistent and often painful twisting and writhing movements of any muscle group[britannica.com] Depending on the disease associated with ischemic neuropathy, a mononeuropathy or a sensory-motor, axonal-demyelinating peripheral neuropathy may be seen as well.[ncbi.nlm.nih.gov] These findings thus constitute a new paradigm for the treatment of ischemic peripheral neuropathy.[nature.com]

  • 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] neuropathy, as well as by extra neurological manifestations.[uniprot.org]

  • Subacute Combined Degeneration of Spinal Cord

    Generalized dystonia (e.g., dystonia musculorum deformans) is an inherited condition in which persistent and often painful twisting and writhing movements of any muscle group[britannica.com] PreTest (Neoplasms & Metabolic) 92 terms Peripheral Neuropathies 96 terms Path1 Exam1 - Genetic disorders OTHER SETS BY THIS CREATOR 44 terms Cardiology STEP 1 Drugs 131[quizlet.com] Neuropathological examination in such cases reveals loss of dorsal ganglionic neurons with degeneration of their peripheral and central axons (peripheral neuropathy and posterior[ipfs.io]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    […] limb-onset dystonia Fructose-1,6-bisphosphatase deficiency Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Hypohidrotic ectodermal dysplasia with[csbg.cnb.csic.es] Most patients have clinical signs of both upper and lower motor neuron disease and are diagnosed with amyotrophic lateral sclerosis - ALS.[dartmouth.edu] Proposed algorithm for evaluation of peripheral neuropathy. Figure 1. Proposed algorithm for evaluation of peripheral neuropathy. Figure 2.[jaoa.org]

  • 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] Seizures and peripheral neuropathy are not typical of PKAN.[ajnr.org]

  • Distal Hereditary Motor Neuropathy Type 1

    neuron disorders presenting with variable combination of upper and lower motor neuron signs.[journals.plos.org] […] bulbospinal muscular atrophy Generalized epilepsy with febrile seizures-plus Generalized epilepsy-paroxysmal dyskinesia syndrome Generalized isolated dystonia Genetic central[se-atlas.de] Charcot-Marie-Tooth Disease (CMT) and distal hereditary motor neuropathies (dHMN) are a diverse group of hereditary neuropathies that are characterized by peripheral nerve[ucl.ac.uk]

  • Congenital Acquired Immune Deficiency Syndrome

    Generalized dystonia (e.g., dystonia musculorum deformans) is an inherited condition in which persistent and often painful twisting and writhing movements of any muscle group[britannica.com] 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] Much of the damage is to the large dorsal-root ganglion neurons; the peripheral nerve fibres also demyelinate, so that peripheral neuropathy also occurs.[britannica.com]

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