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]

[…] 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]

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]

Diagnosis/Testing Diagnosis Diagnosis is based on clinical presentation of severe stimulus-sensitive myoclonus, age of seizure onset, and particular EEG findings. [epilepsy.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]

• Severe Clinical Course

  It was concluded that the initial studies were mostly addressing patients with Baltic myoclonus that had more severe clinical course and possibly more disturbed EEG due to the extensive use of phenytoin therapy in these patients (Iivanainen & Himberg, [onlinelibrary.wiley.com]

• Photosensitive Skin Rash

  Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Dementia Dementia, progressive Progressive dementia [ more ] 0000726 Intellectual disability Mental deficiency [rarediseases.info.nih.gov]

• 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]

• Onset in Adolescence

  ORPHA:308 Synonym(s): PME type 1 Progressive myoclonic epilepsy type 1 Progressive myoclonus epilepsy 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 [orpha.net]

  EPM1A may account for a high proportion of unexplained myoclonus cases. 2 Lafora body disease is also an autosomal recessive disorder with onset in adolescence and severe epilepsy and dementia with milder myoclonus. A milder later onset form exists. [aibolita.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]

  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]

• Hand Tremor

  A 20-year-old woman presented with both uncontrolled hand tremor and seizure attacks. The perinatal and infancy periods of the patient were not eventful, and early developmental milestones were normal. [synapse.koreamed.org]

  CASE REPORT A 20-year-old woman presented with both uncontrolled hand tremor and seizure attacks. The perinatal and infancy periods of the patient were not eventful, and early developmental milestones were normal. [eymj.org]

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]

• Generalized Epileptiform Discharges

  Widespread generalized epileptiform discharges were observed in interictal EEG with photic stimulation (Figure 1). Investigation of cranial MRI was normal (Figure 2). [heraldopenaccess.us]

  Fig. 1. a Typical electroencephalography (EEG) during stage 2 non-REM sleep showing very frequent generalized and fragments of generalized epileptiform discharges. b EEG during wakefulness showing high-amplitude generalized epileptiform discharges associated [karger.com]

• Abnormal Spikes

  The EEG abnormalities (spike‐wave discharges, photosensitivity, and polyspike discharges during REM sleep) are more pronounced during the initial stages of the disease, when there are usually also generalized tonic–clonic seizures (Koskiniemi et al., [onlinelibrary.wiley.com]

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]

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

For early Unverricht-Lundborg disease patients, the disease would begin to progress early and lack of effective treatment meant a quick progression. [diki.pl]

(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]

Treatment and Prognosis Valproic acid is usually considered the first drug of choice as it diminishes myoclonus and the frequency of generalized seizures. 100,108 Furthermore, valproic acid, if started soon after the onset of symptoms, may delay or limit [epilepsy.com]

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

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]

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]