Edit concept Question Editor Create issue ticket

Unverricht-Lundborg Syndrome

ULD


Presentation

  • 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]
  • If this gene is present in an individual suspected of having the disease, it can be confirmed.[en.wikipedia.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]
Asymptomatic
  • Consensus holds that asymptomatic individuals younger than age 18 years who are at risk for nontreatable disorders should not have testing.[onlinelibrary.wiley.com]
  • Heterozygotes (carriers) are asymptomatic. Sibs of a proband At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.[ncbi.nlm.nih.gov]
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]
Withdrawn
  • Due to the frequency of her seizures, she was withdrawn from school, and shortly thereafter, she and her mother moved to Brooklyn, NY, USA, where she completed high school while wheelchair bound.[karger.com]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]
Dysmetria
  • ., mild dysmetria) or in walking (e.g., mild ataxia) 4 Marked photosensitive, generalized spike‐and‐wave and polyspike‐and‐wave paroxysms in EEG ( Koskiniemi et al., 1974b ).[onlinelibrary.wiley.com]

Workup

  • 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
  • ‘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]

Treatment

  • (UMRS Section 1) at the end of the Treatment Period [ Time Frame: End of treatment period (week 14 or early discontinuation visit) ] Global Evaluation Scale by Investigator (I-GES) at the end of the Treatment Period [ Time Frame: End of treatment period[clinicaltrials.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 addition, no preventive treatment is available ( Lehesjoki & Kälviäinen, 2007 ).[onlinelibrary.wiley.com]
  • Due to the progressive nature of the disease, depression is prevalent, [8] but support of family and friends as well as proper treatment can help.[en.wikipedia.org]

Prognosis

  • (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]

Etiology

  • 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]
  • (Etiology) Unverricht-Lundborg Disease is a genetic disorder that is transmitted in an autosomal recessive manner It is reportedly caused by CSTB gene mutations (Source: Unverricht-Lundborg Disease; Genetic and Rare Diseases Information Center (GARD )[dovemed.com]
  • Treatment There is no etiologic treatment for ULD. The use of N ‐acetylcysteine may contribute to a stabilization of symptoms and to decreased progression, due to its action against oxidative stress, but results are uneven ( Edwards et al., 2002 ).[onlinelibrary.wiley.com]
  • The present patient's clinical manifestations were compatible with PMEs related to several etiologies. ULD has rather milder symptoms than other PMEs.[synapse.koreamed.org]

Epidemiology

  • 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]
  • Epidemiology and Genetics ULD has a worldwide but uneven distribution.[onlinelibrary.wiley.com]
  • Relevant External Links for CSTB Genetic Association Database (GAD) CSTB Human Genome Epidemiology (HuGE) Navigator CSTB Atlas of Genetics and Cytogenetics in Oncology and Haematology: CSTB No data available for Genatlas for CSTB Gene Mutations in the[genecards.org]
  • While early patients with ULD had a life expectancy of around 24 years, [8] there have recently been reported cases of individuals living to near-normal ages. [7] Epidemiology [ edit ] The only country that Unverricht–Lundborg disease has a reported incidence[en.wikipedia.org]
  • Epidemiology of the epilepsies . J Neurol Neurosurg Psychiatry 1996 ; 61 : 433–43. 10 Cockerell , OC , Johnson , AL , Sander , JW , Shorvon , SD .[bjpo.rcpsych.org]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • Also, oculomotor findings shed new light on ULD pathophysiology by evidencing combined midbrain and cerebellar dysfunction.[hal.archives-ouvertes.fr]
  • 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]
  • The c.202C T (p.Arg68Ter) mutated transcript and protein are unstable [ Alakurtti et al 2005, Joensuu et al 2007 ], implying reduced CSTB expression as the primary pathophysiologic mechanism.[ncbi.nlm.nih.gov]
  • Adv Neurol 67:329–360 PubMed Google Scholar Rothwell JC (2002) Pathophysiology of spinal myoclonus.[link.springer.com]

Prevention

  • How can Unverricht-Lundborg Disease be Prevented? Unverricht-Lundborg Disease may not be preventable, since it is a genetic disorder.[dovemed.com]
  • In addition, no preventive treatment is available ( Lehesjoki & Kälviäinen, 2007 ).[onlinelibrary.wiley.com]
  • In agreement with our hypothesis, neural processing of external stimuli is progressively impaired in EPM1 possibly due to anatomically impaired thalamocortical system or inhibitory tonus preventing sufficient adaptive reactiveness to stimuli.[physiology.org]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!