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77 Possible Causes for Generalized Dystonia, Hyperreflexia, 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] Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses.[genecards.org] 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]

  • Amyotrophic Lateral Sclerosis Type 5

    ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.[discovery.ucl.ac.uk] Pyramidal signs such as hyperreflexia and spasticity are observed in advanced-stage ALS5 only.[symptoma.com] 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]

  • Juvenile Primary Lateral Sclerosis

    CONCLUSIONS: We report generalized dystonia and cerebellar signs in association with ALS2-related disease.[foundationdystoniaresearch.org] Affiliated tissues include brain , spinal cord and tongue , and related phenotypes are muscle weakness and hyperreflexia Genetics Home Reference : 25 Juvenile primary lateral[malacards.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]

  • 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] Bradykinesia Slow movements Slowness of movements [ more ] 0002067 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Dystonia 0001332 Hyperreflexia[rarediseases.info.nih.gov] The patients also showed clinical and electrophysiological signs of upper and/or lower motor neuron degeneration.[karger.com]

  • 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] Early symptoms include exaggerated reflexes (hyperreflexia) and recurrent muscle spasms in the legs.[ghr.nlm.nih.gov] 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]

  • Amyotrophic Lateral Sclerosis

    It can be localized to a certain group of muscles or can be generalized (180).[functionalneurology.com] If upper motor neurons are also damaged, spasticity and hyperreflexia and pathologic reflexes, such as Babinski’s sign, can also be observed.[flexikon.doccheck.com] It is one of many motor neuron diseases, but what makes it stand out is that it presents with both upper and lower motor neuron signs.[symptoma.com]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    […] to generalized dystonia.[explainmedicine.com] […] coordination of movement 0001310 Gait ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia[rarediseases.info.nih.gov] ALS is a progressive neurodegenerative disease involving both the upper motor neuron (UMN) and lower motor neuron (LMN).[cmm.ucsd.edu]

  • 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] […] drugs.Orpha Number: 100998Disease definitionA complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia[malacards.org] Familial Amyotrophic Lateral Sclerosis (SOD1 Mutation) Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both the upper motor neurons[aetna.com]

  • 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] Other characteristics can include exaggerated reflexes (hyperreflexia) in the lower limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal abnormalities,[ghr.nlm.nih.gov] […] birth weight, relative macrocephaly, triangular face shape, poor feeding Early infancy / childhood: delayed walking, delayed speech, swallowing difficulties Pyramidal signs: hyperreflexia[ncbi.nlm.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 41

    [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] […] characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia[orpha.net] 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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