The signs and symptoms of Unverricht-Lundborg Disease may include: Very frequently present symptoms in 80-99% of the cases: EEG with polyspike wave complexes Limb ataxia Morning myoclonic jerks Frequently present symptoms in 30-79% of the cases: Dysarthria [dovemed.com]

[…] u(x, t) of the equation… Expand I present data and assess the first twelve years of the transition from plan to market. [semanticscholar.org]

[…] type 1 ULD Prevalence: 1-9 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Childhood, Adolescent ICD-10: G40.3 OMIM: 254800 310370 612437 UMLS: C0751785 MeSH: D020194 GARD: 3876 MedDRA: 10054895 The documents contained in this web site are presented [orpha.net]

Calvarial thickening may be present 3. History and etymology The disease is named after Heinrich Unverricht, who first described it in 1891, and Herman Bernhard Lundborg, who researched it in greater detail in 1903. Promoted articles (advertising) [radiopaedia.org]

Middlesbrough, Cleveland, TS5 5AZ, EnglandSearch for more papers by this author First published: November 1992 Citations: 4 Abstract We describe eight patients from three families presenting with myoclonus, ataxia, infrequent seizures and minimal intellectual [onlinelibrary.wiley.com]

• Unconsciousness

  They may also progress to generalized shaking and unconsciousness. [epilepsy.com]

  Sleep 2017年 [査読有り] Elderly woman with exaggerated startle reflex and unconscious drop attack. Neshige S, Kobayashi K, Shimotake A, Iemura T, Matsumoto R, Nishinaka K, Matsumoto M, Takahashi R, Ikeda A. [researchmap.jp]

• Visual Impairment

  impairment; acquired microcephaly) Hemispheric background slowing Multifocal discharges, maximal in temporal and rolandic regions Rhythmic, monomorphic alpha or theta discharges in noncontiguous brain regions West syndrome 3–8 months Epileptic spasms [hindawi.com]

  Late infantile Finnish variant NCL  A variant of late infantile NCL  Onset is later, at around age 5 years, and includes symptoms of clumsiness and hypotonia.  Followed by visual impairment : 5–7 years, ataxia : 7–10 years, Myoclonic and tonic-clonic [slideshare.net]

  One of them in addition had pyramidal signs, ataxia, and dementia. [7], [16] Visual impairment at onset was noted in ten patients (25%) and subsequently 26 (65%) of them developed visual abnormalities, which gives diagnostic clue in patients with early [neurologyindia.com]

• Visual Impairment

  impairment; acquired microcephaly) Hemispheric background slowing Multifocal discharges, maximal in temporal and rolandic regions Rhythmic, monomorphic alpha or theta discharges in noncontiguous brain regions West syndrome 3–8 months Epileptic spasms [hindawi.com]

  Late infantile Finnish variant NCL  A variant of late infantile NCL  Onset is later, at around age 5 years, and includes symptoms of clumsiness and hypotonia.  Followed by visual impairment : 5–7 years, ataxia : 7–10 years, Myoclonic and tonic-clonic [slideshare.net]

  One of them in addition had pyramidal signs, ataxia, and dementia. [7], [16] Visual impairment at onset was noted in ten patients (25%) and subsequently 26 (65%) of them developed visual abnormalities, which gives diagnostic clue in patients with early [neurologyindia.com]

• Scotoma

  The seizures have visual symptoms such as appearance of brightly colored spots or lines (scotoma) or blindness (amaurosis). Seizures usually may affect half of the body with eye deviation or head turning. [news-medical.net]

• Transient Blindness

   Visual seizures present as transient blindness, simple or complex visual hallucinations.  Myoclonus is often fragmentary, asymmetric, arrhythmic, and progressively disabling. 7.  Presence of optic atrophy and retinal degeneration has been documented [slideshare.net]

• Muscular Atrophy

  atrophy with lower extremity predominance + spinal muscular atrophy with progressive myoclonic epilepsy Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Autosomal Dominant Spongiform Encephalopathy with Neuropsychiatric Features survival motor [rgd.mcw.edu]

  MERRF syndrome, if applicable See code E88.42 Related Concepts SNOMET-CT Benign neonatal convulsions (disorder) Clonic seizure (finding) Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) Epileptic seizures - akinetic (finding) Refractory [icd.codes]

  SMN2 Spinal muscular atrophy type 3 SMN1 Spinal muscular atrophy type 4 SMN1 Spinal muscular atrophy type 5 DNAJB2 Spinal muscular atrophy with progressive myoclonic epilepsy ASAH1 Spinal muscular atrophy, distal, X-linked ATP7A Spinal muscular atrophy [centogene.com]

  Genes in the NCL and Progressive Myoclonic Epilepsy Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD AFG3L2 * Spastic ataxia, Spinocerebellar ataxia AD/AR 22 40 ASAH1 Spinal muscular atrophy with progressive myoclonic [blueprintgenetics.com]

• Muscle Twitch

  According to Puschmann, Lundborg distinguished 3 stages of the disorder: Stage 1 began in childhood or early adolescence and consisted of nocturnal attacks of involuntary symmetric muscle twitches, which often were painful, caused anxiety, and reminded [medlink.com]

• Visual Hallucination

   Characteristically, visual seizures are the first manifestation, followed by generalized tonic–clonic seizures, absences, or drop attacks.  Visual seizures present as transient blindness, simple or complex visual hallucinations.  Myoclonus is often [slideshare.net]

• Ataxia

  On the neurological exam, an increase in ataxia and regression in cognition was observed. [heraldopenaccess.us]

  Middlesbrough, Cleveland, TS5 5AZ, EnglandSearch for more papers by this author First published: November 1992 Citations: 4 Abstract We describe eight patients from three families presenting with myoclonus, ataxia, infrequent seizures and minimal intellectual [onlinelibrary.wiley.com]

  Earlier ataxia Progressive features Worsening myoclonus Worsening myoclonus Ataxia Ataxia Cognitive decline Mild or absent Mild or absent Mode of inheritance Autosomal recessive Autosomal recessive Linkage 21q22.3 12p11–q13 Gene Cystatin B Unknown It [academic.oup.com]

  Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome  age of onset with ataxia at 4–5 years.  Myoclonus starts at 5–10 years with a mean at 7 years.  Impaired up-gaze.  The intellect is usually preserved an neuroimaging studies are normal [slideshare.net]

• Cerebellar Ataxia

  The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. [hanyang.elsevierpure.com]

  Coeliac disease may be associated with a cerebellar ataxia with myoclonus or other neurological complications including cerebral calcification, seizures, peripheral neuropathy or a Friedreich’s ataxia-like illness. [aibolita.com]

  Cerebellar Ataxia. Ataxia developed at a later stage of illness compared to myoclonus and seizures, at a mean age of 23.9 years (range: 13–35 years). Both midline and hemispheric cerebellar signs were present. [movementdisorders.onlinelibrary.wiley.com]

  MD Neurology February 24, 2004 An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures ... [aan.com]

• Cerebellar Sign

  Overview Progressive myoclonus epilepsy should considered in a patient with myoclonic seizures, with or without generalized tonic-clonic seizures in the following settings: Progressive cognitive decline Myoclonus resulting in progressive motor impairment Cerebellar [epilepsydiagnosis.org]

  MD, FAAN Continuum August 01, 2019 NARP MITOCHONDRIOPATHY: AN UNUSUAL CAUSE OF PROGRESSIVE MYOCLONIC EPILEPSY ...Progressive myoclonic epilepsies (PMEs) are characterized by seizures, epileptic or nonepileptic myoclonus, cerebellar signs, and progressive [aan.com]

  Three patients never showed cerebellar signs. The intellectual level of 18 patients was normal at the onset of the disease and remained so. [onlinelibrary.wiley.com]

  However, the fundus examination, rate of seizure progression, and presence or absence of ataxia, dementia, and cerebellar signs all provide valuable clinical diagnostic data. [karger.com]

• Involuntary Movements

  The remaining chapters focus on the abnormal involuntary movements associated with each disease or syndrome. [books.google.com]

  movements and epileptic seizures during sleep 神 一敬 東北大学大学院てんかん学分野 ワークショップ4 第2日　第2会場（本館5F コンコードB） 15:10～17:10 内側側頭葉てんかん～手術時期に関するPros and Cons～ 座長： 中里　信和 東北大学大学院医学系研究科てんかん学分野 赤松　直樹 国際医療福祉大学福岡保健医療学部、福岡山王病院 趣旨・狙い 内側側頭葉てんかんにおける外科治療の有効性は論を待たない。 [c-linkage.co.jp]

Workup Laboratory Studies The following studies are intended to determine the etiology: Electrolyte evaluation CBC count Metabolic testing Genetic testing Imaging Studies for SGE MRI of the brain is also used to determine the etiology. [emedicine.medscape.com]

CONCLUSIONS: Information concerning the distribution of different genetic causes of PMEs may provide a framework for an updated diagnostic workup. Phenotypes of the patients with PME of undetermined cause varied widely. [pesquisa.bvsalud.org]

In treatment, combination of valproic acid and lamotrigine was used firstly. Because of no benefit of the treatment a combination of valproic acid and levetiracetam was used. [heraldopenaccess.us]

In addition, no preventive treatment is available (Lehesjoki & Kälviäinen, 2007). [onlinelibrary.wiley.com]

It is well known that ULD is so similar to focal epilepsy or other epilepsy syndromes because of its slow progression that it leads to a misdiagnosis, and also known that ULD is worsened by phenytoin (PHT) treatment. [jstage.jst.go.jp]

and in some cases, due to treatment also. [dovemed.com]

(Outcomes/Resolutions) The prognosis of Unverricht-Lundborg Disease is dependent upon the severity of the signs and symptoms and associated complications, if any The convulsions may be controlled with medication. [dovemed.com]

[…] damage due to reduced cystatin B activity.", keywords = "Adolescent, Adult, Age of Onset, Analysis of Variance, Anticonvulsants, Cathepsin B, Electroencephalography, Evoked Potentials, Somatosensory, Female, Humans, Italy, Male, Middle Aged, Phenytoin, Prognosis [moh-it.pure.elsevier.com]

The etiology of epilepsy is a major determinant of clinical course and prognosis. [books.google.com]

In conclusion, although the prognosis of ULD has progressed, there are still spontaneously severe forms and high risk of early death, including SUDEP. [link.springer.com]

Epilepsy syndrome Clinical features EEG features at presentation Age of seizure onset Seizure types Underlying etiology Prognosis Background Interictal Ictal Early infantile epileptic encephalopathy (ohtahara syndrome) First 2 weeks of life Tonic seizures [hindawi.com]

Epilepsy syndrome Clinical features EEG features at presentation Age of seizure onset Seizure types Underlying etiology Prognosis Background Interictal Ictal Early infantile epileptic encephalopathy (ohtahara syndrome) First 2 weeks of life Tonic seizures [hindawi.com]

The etiology of epilepsy is a major determinant of clinical course and prognosis. [books.google.com]

Metabolic etiologies : mitochondrial disorders (MERRF), neuronal ceroid lipofuscinosis, sialidosis. [epilepsydiagnosis.org]

Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs.bvs.br]

MYOCLONIC 1977-1999 Allowable Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology [decs.bvs.br]

Spondylocarpotarsal synostosis Translocation renal cell carcinoma Synonym(s): - Progressive myoclonic epilepsy type 1 - ULD Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

Lafora Disease/diagnosis, Lafora Disease/epidemiology, Unverricht-Lundborg Syndrome/diagnosis, Unverricht-Lundborg Syndrome/epidemiology, Adolescent, Adult, Cluster Analysis, Female, Follow-Up Studies, Humans, Italy/epidemiology, Lafora Disease/physiopathology [pesquisa.bvsalud.org]

In the light of our data, we propose that ULD with dopamine dysfunction and dyskinetic symptoms shares certain pathophysiological mechanisms with classical movement disorders. [researchers.mq.edu.au]

A Cstb-deficient mouse model, which recapitulates the key features of ULD including myoclonic seizures, ataxia, and neuronal loss, was generated to shed light on the mechanisms contributing to disease pathophysiology. [moh-it.pure.elsevier.com]

Also, oculomotor findings shed new light on ULD pathophysiology by evidencing combined midbrain and cerebellar dysfunction. https://hal.archives-ouvertes.fr/hal-01562621 Contributeur : Anne Bertrand > Soumis le : dimanche 16 juillet 2017 - 12:24:46 Dernière [hal.archives-ouvertes.fr]

Texture analysis revealed textural changes in thalamus and right putamen compared to the healthy controls supporting the thalamic and putaminal involvement in the pathophysiology of EPM1. [uef.fi]

Adv Neurol 67:329–360 PubMed Google Scholar Rothwell JC (2002) Pathophysiology of spinal myoclonus. [link.springer.com]

How can Unverricht-Lundborg Disease be Prevented? Unverricht-Lundborg Disease may not be preventable, since it is a genetic disorder. [dovemed.com]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs.bvs.br]

In addition, no preventive treatment is available (Lehesjoki & Kälviäinen, 2007). [onlinelibrary.wiley.com]