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Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas. 2021

Karthik Muthusamy, and John P Fasolino, and Erika D Driver-Dunckley, and Radhika Dhamija
Department of Clinical Genomics, Mayo Clinic, Rochester, MN.

UI MeSH Term Description Entries
D008068 Lipomatosis A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA. Lipomatoses
D008279 Magnetic Resonance Imaging Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D008297 Male Males
D009207 Myoclonus Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3). Myoclonus, Action,Myoclonus, Nocturnal,Myoclonus, Palatal,Polymyoclonus,Myoclonic Jerk,Myoclonic Jerking,Myoclonus Simplex,Myoclonus, Eyelid,Myoclonus, Intention,Myoclonus, Lower Extremity,Myoclonus, Oculopalatal,Myoclonus, Segmental,Myoclonus, Sleep,Myoclonus, Upper Extremity,Action Myoclonus,Extremity Myoclonus, Lower,Extremity Myoclonus, Upper,Eyelid Myoclonus,Intention Myoclonus,Jerk, Myoclonic,Jerking, Myoclonic,Jerks, Myoclonic,Lower Extremity Myoclonus,Myoclonic Jerks,Nocturnal Myoclonus,Oculopalatal Myoclonus,Palatal Myoclonus,Segmental Myoclonus,Simplex, Myoclonus,Sleep Myoclonus,Upper Extremity Myoclonus
D009333 Neck The part of a human or animal body connecting the HEAD to the rest of the body. Necks
D004272 DNA, Mitochondrial Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins. Mitochondrial DNA,mtDNA
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D001259 Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions. Coordination Impairment,Dyssynergia,Incoordination,Ataxia, Appendicular,Ataxia, Limb,Ataxia, Motor,Ataxia, Sensory,Ataxia, Truncal,Ataxy,Dyscoordination,Lack of Coordination,Tremor, Rubral,Appendicular Ataxia,Appendicular Ataxias,Ataxias,Ataxias, Appendicular,Ataxias, Limb,Ataxias, Motor,Ataxias, Sensory,Ataxias, Truncal,Coordination Impairments,Coordination Lack,Impairment, Coordination,Impairments, Coordination,Incoordinations,Limb Ataxia,Limb Ataxias,Motor Ataxia,Motor Ataxias,Rubral Tremor,Rubral Tremors,Sensory Ataxia,Sensory Ataxias,Tremors, Rubral,Truncal Ataxia,Truncal Ataxias

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