Symptoma

Unverricht-Lundborg Syndrome

ULD

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]

[…] 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]

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]

If this gene is present in an individual suspected of having the disease, it can be confirmed. [en.wikipedia.org]

  • 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]

  • 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]

  • 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]

  • Gait Ataxia

    Cerebellar signs, especially limb ataxia, were difficult to assess because of action myoclonus; 15 patients showed mild or moderate gait ataxia as well as dysarthria that appeared late in the course of disease. [onlinelibrary.wiley.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]

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]

  • 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]

  • Gliosis

    Pathologically, neuronal atrophy, apoptosis and gliosis are observed. The increased expressivity in the glial activation genes and apoptosis accompany this situation. [heraldopenaccess.us]

    ‘Degenerative’ referred to forms where light microscopy of the brain revealed only neuronal loss and gliosis, without evidence of neuronal storage. [academic.oup.com]

    The mice show neuronal apoptosis (especially of cerebellar granule cells), atrophy, and gliosis [ Pennacchio et al 1998, Shannon et al 2002 ]. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood. [ncbi.nlm.nih.gov]

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]

(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]

In many cases the patient would require a wheelchair for mobility, and would die at a young age.[8] However, increased knowledge about the disease and improved treatment and medication has led to a dramatic improvement in prognosis for individuals with [en.wikipedia.org]

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

", keywords "Adolescent, Adult, Age of Onset, Analysis of Variance, Anticonvulsants, Cathepsin B, Electroencephalography, Evoked Potentials, Somatosensory, Female, Humans, Italy, Male, Middle Aged, Phenytoin, Prognosis, Retrospective Studies, Unverricht-Lundborg [moh-it.pure.elsevier.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]

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]

Despite extensive investigation, we found no definitive etiology for 57 patients. [pesquisa.bvsalud.org]

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

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]

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]

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]

Epidemiology and Genetics ULD has a worldwide but uneven distribution. [onlinelibrary.wiley.com]

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. [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]

Future MR imaging and neurophysiologic studies will be needed to investigate possible abnormalities in subcortical structures such as the WM tracts to gain more insight into the pathophysiology and causative mechanisms of EPM1. [ajnr.org]

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]