Create issue ticket

77 Possible Causes for Generalized Dystonia, Hyporeflexia, 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] 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]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    [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] They vary by the specific type and may include hypotonia; hyporeflexia; difficulty sucking, swallowing, and breathing; unmet developmental milestones; and, in more severe[merckmanuals.com] Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness[amboss.com]

  • Lower Motor Neuron Syndrome with Late-Adult Onset

    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] Unlike amyotrophic lateral sclerosis, lower motor neuron findings, such as atrophy and fasciculations, are not as prominent.[verywell.com] Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary.[em-consulte.com]

  • Ataxia-Oculomotor Apraxia Syndrome

    . : 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] Frequency HPO Source Accession 1 nystagmus 33 HP:0000639 2 dysarthria 33 HP:0001260 3 muscle weakness 33 HP:0001324 4 dysmetria 33 HP:0001310 5 areflexia 33 HP:0001284 6 hyporeflexia[malacards.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] […] neurone lesion Lower motor neurone lesion Paralysis Spastic-type contracture Flaccid-type contractures may develop Tendon reflexes Exaggerated; hyperreflexia Reduced/absent; hyporeflexia[medical-dictionary.thefreedictionary.com]

  • 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] Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary.[em-consulte.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] A progressive peripheral neuropathy leads to hyporeflexia. Seizures sometimes occur. Dystonia tends to be milder than that in PKAN but may occur.[ajnr.org]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    […] to generalized dystonia.[explainmedicine.com] ALS is a progressive neurodegenerative disease involving both the upper motor neuron (UMN) and lower motor neuron (LMN).[cmm.ucsd.edu] , dementia SCA22 (one Chinese family) 1q21-q23 Chinese family, age at onset 10-46, gait ataxia, dysarthria, hyporeflexia, slowly progressive pure cerebellar ataxia and atrophy[bcm.edu]

  • 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] LMN signs include weakness, muscle wasting, muscle cramps, fasciculations, and eventually hyporeflexia.[cmm.ucsd.edu]

  • Pyramidal Tract Disorder

    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] 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] It interrupts the monosynaptic stretch reflex arch diminishing or making absent the muscle tone (atonia or hypotonia) and the same to the tendinous reflexes (areflexia or hyporeflexia[wikilectures.eu]

Similar symptoms