Materiały źródłowe

• #1 Myoclonus – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537015/

  Regrettably, our most current knowledge of the epidemiology of myoclonus is grievously outdated. As of 1990, the lifetime prevalence of myoclonus was 8.6% in the overall population. It is generally accepted that myoclonus is an important contributor to many syndromes and diseases, but its incidence and prevalence are almost certainly underestimated because myoclonus is most often secondary to another cause or underlying disorder. In some diseases that feature myoclonus as a phenotypic component, prevalence and incidence estimates vary quite widely, underscoring the crucial lack of disorder-specific epidemiology: it is worthy of further study. […] One study found that electrophysiological testing in the context of clinical findings altered the myoclonus diagnosis and the subtype in 53% of patients.

• #1 Myoclonus – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/sites/books/NBK537015/

  Regrettably, our most current knowledge of the epidemiology of myoclonus is grievously outdated. As of 1990, the lifetime prevalence of myoclonus was 8.6% in the overall population. It is generally accepted that myoclonus is an important contributor to many syndromes and diseases, but its incidence and prevalence are almost certainly underestimated because myoclonus is most often secondary to another cause or underlying disorder. In some diseases that feature myoclonus as a phenotypic component, prevalence and incidence estimates vary quite widely, underscoring the crucial lack of disorder-specific epidemiology: it is worthy of further study. […] It should be recognized that a single disease or patient may have more than a single myoclonus neurophysiology type. One study found that electrophysiological testing in the context of clinical findings altered the myoclonus diagnosis and the subtype in 53% of patients.

• #1 Benign Neonatal Sleep Myoclonus: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1355567-overview

  Although the true incidence is unknown, benign neonatal sleep myoclonus is likely underrecognized. […] Therefore, a broader understanding of its frequency and benign nature is important to establish among primary care providers to prevent complex, expensive, and largely unnecessary testing. […] Onset is in the neonatal period. In one of the larger studies, a retrospective analysis of 38 children older than 4 years, onset in the first 16 days of life was reported in all children; most children presented in the first 4 days of life. […] As has been mentioned in the literature, a study of the natural history of benign neonatal sleep myoclonus has not been performed, and the use of parental reports only may underreport the condition in older children, who often sleep away from their parents.

• #1 Orphanet: Myoclonus-dystonia syndrome

  https://www.orpha.net/en/disease/detail/36899

  The estimated prevalence of MDS in Europe is 1/500,000. […] Myoclonus is usually the presenting manifestation and is described as swift ”lightning-like” jerks that can rarely appear at rest but that are usually triggered by complex motor tasks such as drawing and writing. […] MDS is inherited in an autosomal dominant manner. However, the SGCE gene is maternally imprinted, therefore in most cases (95%) a patient who inherits the mutation from their mother will remain healthy and only those that inherit the mutation from their father will develop MDS. […] Treatment plans are individualized to a patient’s presenting symptoms.

• #1 Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex | Scientific Reports

  https://www.nature.com/articles/s41598-024-73386-9

  Patients with myoclonus-dystonia showed increased non-motor symptoms, including general anxiety, social phobia, and a higher and pathological score on BDI scale. […] Neuroimaging approaches demonstrated abnormal connectivity within and between both motor and non-motor functional networks. […] Specifically, impairments were observed in the cerebello-cerebral modulation of the salience, sensorimotor, dorsal attention, and default mode networks. […] The cerebellum dominated the hierarchy of sensorimotor as well as several non-motor networks in patients. […] These findings suggest that dysfunction across widespread networks may contribute to the development of non-motor symptoms in myoclonus-dystonia, with the salience network playing a significant role. […] Furthermore, the results support the notion that the cerebellum is involved in the reorganization of both motor and non-motor networks in this neuropsychiatric developmental disorder.

• #1 Opsoclonus Myoclonus Syndrome – EyeWiki

  https://eyewiki.org/Opsoclonus_Myoclonus_Syndrome

  OMS is extremely rare worldwide with an incidence of 1 in 5 million per year and a prevalence of approximately 1 in a million of the worldwide population. […] There are no clear familial, genetic, sexual or ethnic predilections for OMS. […] In children, the most common age of presentation is between 1 and 3 years. […] In adults, the age of presentation can vary widely, with reports ranging from adolescence to the eighth decade of life.

• #1 Orphanet: Opsoclonus-myoclonus syndrome

  https://www.orpha.net/en/disease/detail/1183

  The annual incidence is estimated at around 1/5,000,000. […] OMS typically presents between 1 and 3 years of age, although it can occur earlier or later in childhood. […] OMS is associated in approximately 50% of pediatric cases with a neuroblastoma; this tumour is usually (but not always) of low grade with a good oncological outcome. […] OMS may have a paraneoplastic, parainfectious or idiopathic origin. […] In the majority of pediatric paraneoplastic cases, a neuroblastoma is found. […] The diagnosis is clinical, based on the presence of 3 out of the 4 following criteria: 1) neuroblastoma, 2) opsoclonus, 3) a movement disorder with myoclonus and/or ataxia, and 4) behavioural and/or sleep disturbance. […] Treatment usually includes resection of the neuroblastoma if present; occasionally, higher grade neuroblastoma may require chemotherapy. […] Outcome is variable. Some children have a monophasic illness, respond well to steroids and have little or no sequelae. Others may be treatment-resistant, have a chronic relapsing course and motor, cognitive and/or behavioral sequelae.

• #1 Opsoclonus-Myoclonus Syndrome Secondary to West Nile Encephalitis

  https://webeye.ophth.uiowa.edu/eyeforum/cases/282-opsoclonus-myoclonus-syndrome.htm

  Opsoclonus-myoclonus syndrome (OMS) is exceedingly rare, with an estimated incidence of 1 per 5 million people per year. […] A recent review of 116 adult onset OMS cases in the literature reported 51% of cases were paraneoplastic in etiology. […] West Nile virus is a flavivirus first described in Uganda in 1937. […] At timing of this publication, only eight cases of OMS have been reported due to West Nile virus. […] OMS secondary to West Nile virus is diagnosed with IgM and IgG antibodies against West Nile virus in cerebrospinal fluid or serum.

• #1 Opsoclonus-Myoclonus Syndrome Secondary to West Nile Encephalitis

  http://eyerounds.org/cases/282-opsoclonus-myoclonus-syndrome.htm

  Opsoclonus-myoclonus syndrome (OMS) is exceedingly rare, with an estimated incidence of 1 per 5 million people per year. […] A recent review of 116 adult onset OMS cases in the literature reported 51% of cases were paraneoplastic in etiology. […] West Nile virus is a flavivirus first described in Uganda in 1937. […] At timing of this publication, only eight cases of OMS have been reported due to West Nile virus. […] OMS secondary to West Nile virus is diagnosed with IgM and IgG antibodies against West Nile virus in cerebrospinal fluid or serum.

• #1 Do Vaccines Cause Opsoclonus Myoclonus Syndrome (OMS)? | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-319-94694-8_48

  Opsoclonus myoclonus syndrome (OMS) is a very rare neurological condition that generally begins at one to two years of age and is characterized by uncontrolled, irregular and rapid movements of the muscles and eyes. […] Vaccines currently routinely recommended to the general population in the U.S. have not been shown to cause OMS. […] These conclusions do not necessarily consider vaccines recommended only for special populations in the United States such as Yellow Fever vaccine (international travelers) or Smallpox vaccine (military personnel).

• #1 Progressive myoclonus epilepsy – Wikipedia

  https://en.wikipedia.org/wiki/Progressive_myoclonus_epilepsy

  PME accounts for less than 1% of epilepsy cases at specialist centres. […] The incidence and prevalence of PME is unknown, but there are considerable geography and ethnic variations amongst the specific genetic disorders. One cause, Unverricht Lundborg Disease, has an incidence of at least 1:20,000 in Finland.

• #1 Progressive myoclonic epilepsy type 1 : MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1/

  Progressive myoclonus epilepsy is a rare group of conditions. Progressive myoclonic epilepsy type 1 is believed to be the most common form of this type of epilepsy, but its worldwide prevalence is unknown. The condition is more common in the North African countries of Tunisia, Algeria, and Morocco. Progressive myoclonic epilepsy type 1 occurs most frequently in Finland, where approximately 2 in 100,000 people are affected. […] People with progressive myoclonic epilepsy type 1 experience episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Within 5 to 10 years, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities.

• #1 NASA Courses for doctors

  https://www.nasafordoctors.co.za/articles.php?cid=4&id=7&aid=537

  The disorder is commonest in Finland, but is also prevalent in the Maghreb (Morocco, Algeria, and Tunisia). Patients have been described from Japan, Europe, North America, and other countries.

• #1 Progressive myoclonic epilepsy | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/progressive-myoclonic-epilepsy?lang=us

  Most commonly they clinically manifest in late childhood or teens, although they may present at any age 1. […] The progressive myoclonic epilepsies are usually relatively refractory to antiseizure medications. Most patients eventually require wheelchairs with a decreased lifespan 1.

• #1 Myoclonic Epilepsy Beginning in Infancy or Early Childhood: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1176055-overview

  The incidence of myoclonic epilepsy is approximately 1 case in 40,000 children. Typically, the onset of these disorders is during the first 3 years of life. There are no known racial or sexual differences in the overall frequency of myoclonic epilepsies, although there may be differences in prevalence among specific populations for certain forms of myoclonic epilepsy (ie, Baltic epilepsy). […] The overall prognosis associated with myoclonic epilepsy in childhood depends on the underlying etiology. Identification of a distinct epilepsy syndrome may enable more accurate prognostication (see Etiology).

• #1 Progressive encephalomyelitis with rigidity and myoclonus | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/progressive-encephalomyelitis-with-rigidity-and-myoclonus?lang=us

  Cases of progressive encephalomyelitis with rigidity and myoclonus (PERM) are limited to case reports and short case series 1,2. The age of onset is usually in middle-age (40-60 years) and it may be more common in males 1,2. […] Most cases are not associated with an underlying tumor 1,2. In rare cases with a reported tumor, thymoma is the most common association1,2.

• #1

  https://aesnet.org/abstractslisting/post-anoxic-myoclonus-after-pediatric-cardiac-arrest-clinical-features-eeg-characteristics-and-outcomes

  Post-anoxic myoclonus (PAM) after cardiac arrest (CA) is often associated with unfavorable neurologic outcome in adults. There is a paucity of data on the epidemiology, clinical and electrographic characteristics, and outcomes of PAM in children. […] Our data are consistent with adult findings that PAM with discontinuous EEG background is associated with severe disability and death, while PAM with continuous EEG background is associated with more variable outcomes.

• #1 PO096 Myoclonus dystonia: bnsu surveillance project | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/88/Suppl_1/A37.1

  Myoclonus Dystonia is one of the projects registered with the British Neurological Surveillance Unit (BNSU). […] All Association of British Neurologists (ABN) members may report MD cases seen in routine clinical practice via the monthly electronic alert process. […] During 2016 14 MD cases were identified via the BNSU electronic alert system, with 10 of these individuals making contact with the movement disorders research team in Cardiff, seeking to enrol in the Welsh Movement Disorders Research Network (Move Wales) research programme. […] We have received funding from the Dystonia Medical Research Foundation (DMRF) and the Brown Family Foundation to act as the lead centre in a web-based international study of non-motor symptoms in MD.

• #1

  https://link.springer.com/article/10.1007/s00415-016-8357-z

  A French pharmacovigilance database study […] reported an incidence of drug-induced myoclonus of 0.2% (423/185.634 reported adverse events over a 20-year period), which might be an underestimation due to underreporting. Our literature survey is not suitable to extract epidemiological data, but the large number of case reports that we identified does suggest that drug-induced myoclonus is not an uncommon phenomenon in movement disorder consultations. […] However, in many cases, myoclonus appeared shortly after the prescription of a new (and presumably causally involved) drug, and disappeared again readily after this same drug was stopped, suggesting a causal relationship. […] Our survey as well as the French pharmacovigilance database study found that the most important groups of drugs with links to myoclonus are: opiates, antidepressants, antipsychotic drugs, and antibiotics. However, drug-induced myoclonus may also be caused by a wide variety of other drugs. Drug-induced myoclonus is usually reversible upon discontinuation of the offending drug, and this stresses the importance of making the correct diagnosis of drug-induced myoclonus. Importantly, the phenomenology of the myoclonus can vary within a group of drugs and even for one particular drug, suggesting that the neuro-anatomical generator varies. From a clinical perspective, this also means that drugs as a cause cannot be discarded based solely on clinical myoclonus characteristics. The precise cellular and neurochemical alterations that make a certain drug cause myoclonus remain largely unclear and therefore need further study.

• #2 Myoclonus – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/sites/books/NBK537015/

  Regrettably, our most current knowledge of the epidemiology of myoclonus is grievously outdated. As of 1990, the lifetime prevalence of myoclonus was 8.6% in the overall population. It is generally accepted that myoclonus is an important contributor to many syndromes and diseases, but its incidence and prevalence are almost certainly underestimated because myoclonus is most often secondary to another cause or underlying disorder. In some diseases that feature myoclonus as a phenotypic component, prevalence and incidence estimates vary quite widely, underscoring the crucial lack of disorder-specific epidemiology: it is worthy of further study. […] It should be recognized that a single disease or patient may have more than a single myoclonus neurophysiology type. One study found that electrophysiological testing in the context of clinical findings altered the myoclonus diagnosis and the subtype in 53% of patients.

• #2 Electrophysiological characteristics and anatomical differentiation of epileptic and non-epileptic myoclonus | The Egyptian Journal of Neurology, Psychiatry and Neurosurgery | Full Text

  https://ejnpn.springeropen.com/articles/10.1186/s41983-021-00374-5

  Myoclonus can be subdivided according to etiology into primary or secondary. […] The presence of associated neurological signs usually indicates symptomatic myoclonus. Meanwhile, sudden or rapid onset points to a toxic, infectious, or metabolic etiology. […] EEG is helpful for the diagnosis of epileptic myoclonus. […] Our study included 19 patients with JME (38%), 10 patients with progressive myoclonic epilepsy (20%) and 21 patients with secondary myoclonus. Out of our studied 50 patients with myoclonus, 29 patients were epileptic myoclonus, while 21 patients were non-epileptic myoclonus with no significant sex difference in both groups. […] Regarding EEG findings in our studied patients with myoclonus; they showed statistically significant differences in regarding the abnormal EEG findings between epileptic and non-epileptic myoclonus (P=0.007). […] This study demonstrated the importance of somatosensory evoked potential and electroencephalography in the diagnosis and anatomical sub-classification of myoclonus and so may be of great value for the decision-making regarding the subsequent management.

• #2 Benign Neonatal Sleep Myoclonus: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1355567-overview

  Although the true incidence is unknown, benign neonatal sleep myoclonus is likely underrecognized. […] Therefore, a broader understanding of its frequency and benign nature is important to establish among primary care providers to prevent complex, expensive, and largely unnecessary testing. […] Onset is in the neonatal period. In one of the larger studies, a retrospective analysis of 38 children older than 4 years, onset in the first 16 days of life was reported in all children; most children presented in the first 4 days of life. […] As has been mentioned in the literature, a study of the natural history of benign neonatal sleep myoclonus has not been performed, and the use of parental reports only may underreport the condition in older children, who often sleep away from their parents.

• #2 Orphanet: Myoclonus-dystonia syndrome

  https://www.orpha.net/en/disease/detail/36899

  The estimated prevalence of MDS in Europe is 1/500,000. […] Myoclonus is usually the presenting manifestation and is described as swift ”lightning-like” jerks that can rarely appear at rest but that are usually triggered by complex motor tasks such as drawing and writing. […] MDS is inherited in an autosomal dominant manner. However, the SGCE gene is maternally imprinted, therefore in most cases (95%) a patient who inherits the mutation from their mother will remain healthy and only those that inherit the mutation from their father will develop MDS. […] Treatment plans are individualized to a patient’s presenting symptoms.

• #2 Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex | Scientific Reports

  https://www.nature.com/articles/s41598-024-73386-9

  Patients with myoclonus-dystonia showed increased non-motor symptoms, including general anxiety, social phobia, and a higher and pathological score on BDI scale. […] Neuroimaging approaches demonstrated abnormal connectivity within and between both motor and non-motor functional networks. […] Specifically, impairments were observed in the cerebello-cerebral modulation of the salience, sensorimotor, dorsal attention, and default mode networks. […] The cerebellum dominated the hierarchy of sensorimotor as well as several non-motor networks in patients. […] These findings suggest that dysfunction across widespread networks may contribute to the development of non-motor symptoms in myoclonus-dystonia, with the salience network playing a significant role. […] Furthermore, the results support the notion that the cerebellum is involved in the reorganization of both motor and non-motor networks in this neuropsychiatric developmental disorder.

• #2 Opsoclonus-Myoclonus Syndrome Secondary to West Nile Encephalitis

  https://webeye.ophth.uiowa.edu/eyeforum/cases/282-opsoclonus-myoclonus-syndrome.htm

  Opsoclonus-myoclonus syndrome (OMS) is exceedingly rare, with an estimated incidence of 1 per 5 million people per year. […] A recent review of 116 adult onset OMS cases in the literature reported 51% of cases were paraneoplastic in etiology. […] West Nile virus is a flavivirus first described in Uganda in 1937. […] At timing of this publication, only eight cases of OMS have been reported due to West Nile virus. […] OMS secondary to West Nile virus is diagnosed with IgM and IgG antibodies against West Nile virus in cerebrospinal fluid or serum.

• #2 Opsoclonus Myoclonus Syndrome – EyeWiki

  https://eyewiki.org/Opsoclonus_Myoclonus_Syndrome

  OMS is extremely rare worldwide with an incidence of 1 in 5 million per year and a prevalence of approximately 1 in a million of the worldwide population. […] There are no clear familial, genetic, sexual or ethnic predilections for OMS. […] In children, the most common age of presentation is between 1 and 3 years. […] In adults, the age of presentation can vary widely, with reports ranging from adolescence to the eighth decade of life.

• #2 Orphanet: Opsoclonus-myoclonus syndrome

  https://www.orpha.net/en/disease/detail/1183

  The annual incidence is estimated at around 1/5,000,000. […] OMS typically presents between 1 and 3 years of age, although it can occur earlier or later in childhood. […] OMS is associated in approximately 50% of pediatric cases with a neuroblastoma; this tumour is usually (but not always) of low grade with a good oncological outcome. […] OMS may have a paraneoplastic, parainfectious or idiopathic origin. […] In the majority of pediatric paraneoplastic cases, a neuroblastoma is found. […] The diagnosis is clinical, based on the presence of 3 out of the 4 following criteria: 1) neuroblastoma, 2) opsoclonus, 3) a movement disorder with myoclonus and/or ataxia, and 4) behavioural and/or sleep disturbance. […] Treatment usually includes resection of the neuroblastoma if present; occasionally, higher grade neuroblastoma may require chemotherapy. […] Outcome is variable. Some children have a monophasic illness, respond well to steroids and have little or no sequelae. Others may be treatment-resistant, have a chronic relapsing course and motor, cognitive and/or behavioral sequelae.

• #2 Progressive myoclonus epilepsy – Wikipedia

  https://en.wikipedia.org/wiki/Progressive_myoclonus_epilepsy

  PME accounts for less than 1% of epilepsy cases at specialist centres. […] The incidence and prevalence of PME is unknown, but there are considerable geography and ethnic variations amongst the specific genetic disorders. One cause, Unverricht Lundborg Disease, has an incidence of at least 1:20,000 in Finland.

• #2 Progressive myoclonic epilepsy type 1 : MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1/

  Progressive myoclonus epilepsy is a rare group of conditions. Progressive myoclonic epilepsy type 1 is believed to be the most common form of this type of epilepsy, but its worldwide prevalence is unknown. The condition is more common in the North African countries of Tunisia, Algeria, and Morocco. Progressive myoclonic epilepsy type 1 occurs most frequently in Finland, where approximately 2 in 100,000 people are affected. […] People with progressive myoclonic epilepsy type 1 experience episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Within 5 to 10 years, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities.

• #2 Progressive myoclonic epilepsy | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/progressive-myoclonic-epilepsy?lang=us

  Most commonly they clinically manifest in late childhood or teens, although they may present at any age 1. […] The progressive myoclonic epilepsies are usually relatively refractory to antiseizure medications. Most patients eventually require wheelchairs with a decreased lifespan 1.

• #2 Myoclonic Epilepsy Beginning in Infancy or Early Childhood: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1176055-overview

  The incidence of myoclonic epilepsy is approximately 1 case in 40,000 children. Typically, the onset of these disorders is during the first 3 years of life. There are no known racial or sexual differences in the overall frequency of myoclonic epilepsies, although there may be differences in prevalence among specific populations for certain forms of myoclonic epilepsy (ie, Baltic epilepsy). […] The overall prognosis associated with myoclonic epilepsy in childhood depends on the underlying etiology. Identification of a distinct epilepsy syndrome may enable more accurate prognostication (see Etiology).

• #2 Progressive encephalomyelitis with rigidity and myoclonus | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/progressive-encephalomyelitis-with-rigidity-and-myoclonus?lang=us

  Cases of progressive encephalomyelitis with rigidity and myoclonus (PERM) are limited to case reports and short case series 1,2. The age of onset is usually in middle-age (40-60 years) and it may be more common in males 1,2. […] Most cases are not associated with an underlying tumor 1,2. In rare cases with a reported tumor, thymoma is the most common association1,2.

• #2

  https://aesnet.org/abstractslisting/post-anoxic-myoclonus-after-pediatric-cardiac-arrest-clinical-features-eeg-characteristics-and-outcomes

  Post-anoxic myoclonus (PAM) after cardiac arrest (CA) is often associated with unfavorable neurologic outcome in adults. There is a paucity of data on the epidemiology, clinical and electrographic characteristics, and outcomes of PAM in children. […] Our data are consistent with adult findings that PAM with discontinuous EEG background is associated with severe disability and death, while PAM with continuous EEG background is associated with more variable outcomes.

• #2 PO096 Myoclonus dystonia: bnsu surveillance project | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/88/Suppl_1/A37.1

  Myoclonus Dystonia is one of the projects registered with the British Neurological Surveillance Unit (BNSU). […] All Association of British Neurologists (ABN) members may report MD cases seen in routine clinical practice via the monthly electronic alert process. […] During 2016 14 MD cases were identified via the BNSU electronic alert system, with 10 of these individuals making contact with the movement disorders research team in Cardiff, seeking to enrol in the Welsh Movement Disorders Research Network (Move Wales) research programme. […] We have received funding from the Dystonia Medical Research Foundation (DMRF) and the Brown Family Foundation to act as the lead centre in a web-based international study of non-motor symptoms in MD.

• #2

  https://link.springer.com/article/10.1007/s00415-016-8357-z

  A French pharmacovigilance database study […] reported an incidence of drug-induced myoclonus of 0.2% (423/185.634 reported adverse events over a 20-year period), which might be an underestimation due to underreporting. Our literature survey is not suitable to extract epidemiological data, but the large number of case reports that we identified does suggest that drug-induced myoclonus is not an uncommon phenomenon in movement disorder consultations. […] However, in many cases, myoclonus appeared shortly after the prescription of a new (and presumably causally involved) drug, and disappeared again readily after this same drug was stopped, suggesting a causal relationship. […] Our survey as well as the French pharmacovigilance database study found that the most important groups of drugs with links to myoclonus are: opiates, antidepressants, antipsychotic drugs, and antibiotics. However, drug-induced myoclonus may also be caused by a wide variety of other drugs. Drug-induced myoclonus is usually reversible upon discontinuation of the offending drug, and this stresses the importance of making the correct diagnosis of drug-induced myoclonus. Importantly, the phenomenology of the myoclonus can vary within a group of drugs and even for one particular drug, suggesting that the neuro-anatomical generator varies. From a clinical perspective, this also means that drugs as a cause cannot be discarded based solely on clinical myoclonus characteristics. The precise cellular and neurochemical alterations that make a certain drug cause myoclonus remain largely unclear and therefore need further study.

• #3 Electrophysiological characteristics and anatomical differentiation of epileptic and non-epileptic myoclonus | The Egyptian Journal of Neurology, Psychiatry and Neurosurgery | Full Text

  https://ejnpn.springeropen.com/articles/10.1186/s41983-021-00374-5

  Myoclonus can be subdivided according to etiology into primary or secondary. […] The presence of associated neurological signs usually indicates symptomatic myoclonus. Meanwhile, sudden or rapid onset points to a toxic, infectious, or metabolic etiology. […] EEG is helpful for the diagnosis of epileptic myoclonus. […] Our study included 19 patients with JME (38%), 10 patients with progressive myoclonic epilepsy (20%) and 21 patients with secondary myoclonus. Out of our studied 50 patients with myoclonus, 29 patients were epileptic myoclonus, while 21 patients were non-epileptic myoclonus with no significant sex difference in both groups. […] Regarding EEG findings in our studied patients with myoclonus; they showed statistically significant differences in regarding the abnormal EEG findings between epileptic and non-epileptic myoclonus (P=0.007). […] This study demonstrated the importance of somatosensory evoked potential and electroencephalography in the diagnosis and anatomical sub-classification of myoclonus and so may be of great value for the decision-making regarding the subsequent management.

• #3 Benign Neonatal Sleep Myoclonus: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1355567-overview

  Although the true incidence is unknown, benign neonatal sleep myoclonus is likely underrecognized. […] Therefore, a broader understanding of its frequency and benign nature is important to establish among primary care providers to prevent complex, expensive, and largely unnecessary testing. […] Onset is in the neonatal period. In one of the larger studies, a retrospective analysis of 38 children older than 4 years, onset in the first 16 days of life was reported in all children; most children presented in the first 4 days of life. […] As has been mentioned in the literature, a study of the natural history of benign neonatal sleep myoclonus has not been performed, and the use of parental reports only may underreport the condition in older children, who often sleep away from their parents.

• #3 Orphanet: Myoclonus-dystonia syndrome

  https://www.orpha.net/en/disease/detail/36899

  The estimated prevalence of MDS in Europe is 1/500,000. […] Myoclonus is usually the presenting manifestation and is described as swift ”lightning-like” jerks that can rarely appear at rest but that are usually triggered by complex motor tasks such as drawing and writing. […] MDS is inherited in an autosomal dominant manner. However, the SGCE gene is maternally imprinted, therefore in most cases (95%) a patient who inherits the mutation from their mother will remain healthy and only those that inherit the mutation from their father will develop MDS. […] Treatment plans are individualized to a patient’s presenting symptoms.

• #3 Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex | Scientific Reports

  https://www.nature.com/articles/s41598-024-73386-9

  Patients with myoclonus-dystonia showed increased non-motor symptoms, including general anxiety, social phobia, and a higher and pathological score on BDI scale. […] Neuroimaging approaches demonstrated abnormal connectivity within and between both motor and non-motor functional networks. […] Specifically, impairments were observed in the cerebello-cerebral modulation of the salience, sensorimotor, dorsal attention, and default mode networks. […] The cerebellum dominated the hierarchy of sensorimotor as well as several non-motor networks in patients. […] These findings suggest that dysfunction across widespread networks may contribute to the development of non-motor symptoms in myoclonus-dystonia, with the salience network playing a significant role. […] Furthermore, the results support the notion that the cerebellum is involved in the reorganization of both motor and non-motor networks in this neuropsychiatric developmental disorder.

• #3 Opsoclonus-Myoclonus Syndrome Secondary to West Nile Encephalitis

  http://eyerounds.org/cases/282-opsoclonus-myoclonus-syndrome.htm

  Opsoclonus-myoclonus syndrome (OMS) is exceedingly rare, with an estimated incidence of 1 per 5 million people per year. […] A recent review of 116 adult onset OMS cases in the literature reported 51% of cases were paraneoplastic in etiology. […] West Nile virus is a flavivirus first described in Uganda in 1937. […] At timing of this publication, only eight cases of OMS have been reported due to West Nile virus. […] OMS secondary to West Nile virus is diagnosed with IgM and IgG antibodies against West Nile virus in cerebrospinal fluid or serum.

• #3 Opsoclonus Myoclonus Syndrome – EyeWiki

  https://eyewiki.org/Opsoclonus_Myoclonus_Syndrome

  OMS is extremely rare worldwide with an incidence of 1 in 5 million per year and a prevalence of approximately 1 in a million of the worldwide population. […] There are no clear familial, genetic, sexual or ethnic predilections for OMS. […] In children, the most common age of presentation is between 1 and 3 years. […] In adults, the age of presentation can vary widely, with reports ranging from adolescence to the eighth decade of life.

• #3 Orphanet: Opsoclonus-myoclonus syndrome

  https://www.orpha.net/en/disease/detail/1183

  The annual incidence is estimated at around 1/5,000,000. […] OMS typically presents between 1 and 3 years of age, although it can occur earlier or later in childhood. […] OMS is associated in approximately 50% of pediatric cases with a neuroblastoma; this tumour is usually (but not always) of low grade with a good oncological outcome. […] OMS may have a paraneoplastic, parainfectious or idiopathic origin. […] In the majority of pediatric paraneoplastic cases, a neuroblastoma is found. […] The diagnosis is clinical, based on the presence of 3 out of the 4 following criteria: 1) neuroblastoma, 2) opsoclonus, 3) a movement disorder with myoclonus and/or ataxia, and 4) behavioural and/or sleep disturbance. […] Treatment usually includes resection of the neuroblastoma if present; occasionally, higher grade neuroblastoma may require chemotherapy. […] Outcome is variable. Some children have a monophasic illness, respond well to steroids and have little or no sequelae. Others may be treatment-resistant, have a chronic relapsing course and motor, cognitive and/or behavioral sequelae.

• #3 PO096 Myoclonus dystonia: bnsu surveillance project | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/88/Suppl_1/A37.1

  Myoclonus Dystonia is one of the projects registered with the British Neurological Surveillance Unit (BNSU). […] All Association of British Neurologists (ABN) members may report MD cases seen in routine clinical practice via the monthly electronic alert process. […] During 2016 14 MD cases were identified via the BNSU electronic alert system, with 10 of these individuals making contact with the movement disorders research team in Cardiff, seeking to enrol in the Welsh Movement Disorders Research Network (Move Wales) research programme. […] We have received funding from the Dystonia Medical Research Foundation (DMRF) and the Brown Family Foundation to act as the lead centre in a web-based international study of non-motor symptoms in MD.

• #3

  https://link.springer.com/article/10.1007/s00415-016-8357-z

  A French pharmacovigilance database study […] reported an incidence of drug-induced myoclonus of 0.2% (423/185.634 reported adverse events over a 20-year period), which might be an underestimation due to underreporting. Our literature survey is not suitable to extract epidemiological data, but the large number of case reports that we identified does suggest that drug-induced myoclonus is not an uncommon phenomenon in movement disorder consultations. […] However, in many cases, myoclonus appeared shortly after the prescription of a new (and presumably causally involved) drug, and disappeared again readily after this same drug was stopped, suggesting a causal relationship. […] Our survey as well as the French pharmacovigilance database study found that the most important groups of drugs with links to myoclonus are: opiates, antidepressants, antipsychotic drugs, and antibiotics. However, drug-induced myoclonus may also be caused by a wide variety of other drugs. Drug-induced myoclonus is usually reversible upon discontinuation of the offending drug, and this stresses the importance of making the correct diagnosis of drug-induced myoclonus. Importantly, the phenomenology of the myoclonus can vary within a group of drugs and even for one particular drug, suggesting that the neuro-anatomical generator varies. From a clinical perspective, this also means that drugs as a cause cannot be discarded based solely on clinical myoclonus characteristics. The precise cellular and neurochemical alterations that make a certain drug cause myoclonus remain largely unclear and therefore need further study.

• #4 Electrophysiological characteristics and anatomical differentiation of epileptic and non-epileptic myoclonus | The Egyptian Journal of Neurology, Psychiatry and Neurosurgery | Full Text

  https://ejnpn.springeropen.com/articles/10.1186/s41983-021-00374-5

  Myoclonus can be subdivided according to etiology into primary or secondary. […] The presence of associated neurological signs usually indicates symptomatic myoclonus. Meanwhile, sudden or rapid onset points to a toxic, infectious, or metabolic etiology. […] EEG is helpful for the diagnosis of epileptic myoclonus. […] Our study included 19 patients with JME (38%), 10 patients with progressive myoclonic epilepsy (20%) and 21 patients with secondary myoclonus. Out of our studied 50 patients with myoclonus, 29 patients were epileptic myoclonus, while 21 patients were non-epileptic myoclonus with no significant sex difference in both groups. […] Regarding EEG findings in our studied patients with myoclonus; they showed statistically significant differences in regarding the abnormal EEG findings between epileptic and non-epileptic myoclonus (P=0.007). […] This study demonstrated the importance of somatosensory evoked potential and electroencephalography in the diagnosis and anatomical sub-classification of myoclonus and so may be of great value for the decision-making regarding the subsequent management.

• #4 Orphanet: Myoclonus-dystonia syndrome

  https://www.orpha.net/en/disease/detail/36899

  The estimated prevalence of MDS in Europe is 1/500,000. […] Myoclonus is usually the presenting manifestation and is described as swift ”lightning-like” jerks that can rarely appear at rest but that are usually triggered by complex motor tasks such as drawing and writing. […] MDS is inherited in an autosomal dominant manner. However, the SGCE gene is maternally imprinted, therefore in most cases (95%) a patient who inherits the mutation from their mother will remain healthy and only those that inherit the mutation from their father will develop MDS. […] Treatment plans are individualized to a patient’s presenting symptoms.

• #4 Opsoclonus Myoclonus Syndrome – EyeWiki

  https://eyewiki.org/Opsoclonus_Myoclonus_Syndrome

  OMS is extremely rare worldwide with an incidence of 1 in 5 million per year and a prevalence of approximately 1 in a million of the worldwide population. […] There are no clear familial, genetic, sexual or ethnic predilections for OMS. […] In children, the most common age of presentation is between 1 and 3 years. […] In adults, the age of presentation can vary widely, with reports ranging from adolescence to the eighth decade of life.

• #4 Orphanet: Opsoclonus-myoclonus syndrome

  https://www.orpha.net/en/disease/detail/1183

  The annual incidence is estimated at around 1/5,000,000. […] OMS typically presents between 1 and 3 years of age, although it can occur earlier or later in childhood. […] OMS is associated in approximately 50% of pediatric cases with a neuroblastoma; this tumour is usually (but not always) of low grade with a good oncological outcome. […] OMS may have a paraneoplastic, parainfectious or idiopathic origin. […] In the majority of pediatric paraneoplastic cases, a neuroblastoma is found. […] The diagnosis is clinical, based on the presence of 3 out of the 4 following criteria: 1) neuroblastoma, 2) opsoclonus, 3) a movement disorder with myoclonus and/or ataxia, and 4) behavioural and/or sleep disturbance. […] Treatment usually includes resection of the neuroblastoma if present; occasionally, higher grade neuroblastoma may require chemotherapy. […] Outcome is variable. Some children have a monophasic illness, respond well to steroids and have little or no sequelae. Others may be treatment-resistant, have a chronic relapsing course and motor, cognitive and/or behavioral sequelae.

• #4

  https://link.springer.com/article/10.1007/s00415-016-8357-z

  A French pharmacovigilance database study […] reported an incidence of drug-induced myoclonus of 0.2% (423/185.634 reported adverse events over a 20-year period), which might be an underestimation due to underreporting. Our literature survey is not suitable to extract epidemiological data, but the large number of case reports that we identified does suggest that drug-induced myoclonus is not an uncommon phenomenon in movement disorder consultations. […] However, in many cases, myoclonus appeared shortly after the prescription of a new (and presumably causally involved) drug, and disappeared again readily after this same drug was stopped, suggesting a causal relationship. […] Our survey as well as the French pharmacovigilance database study found that the most important groups of drugs with links to myoclonus are: opiates, antidepressants, antipsychotic drugs, and antibiotics. However, drug-induced myoclonus may also be caused by a wide variety of other drugs. Drug-induced myoclonus is usually reversible upon discontinuation of the offending drug, and this stresses the importance of making the correct diagnosis of drug-induced myoclonus. Importantly, the phenomenology of the myoclonus can vary within a group of drugs and even for one particular drug, suggesting that the neuro-anatomical generator varies. From a clinical perspective, this also means that drugs as a cause cannot be discarded based solely on clinical myoclonus characteristics. The precise cellular and neurochemical alterations that make a certain drug cause myoclonus remain largely unclear and therefore need further study.

• #5 Orphanet: Opsoclonus-myoclonus syndrome

  https://www.orpha.net/en/disease/detail/1183

  The annual incidence is estimated at around 1/5,000,000. […] OMS typically presents between 1 and 3 years of age, although it can occur earlier or later in childhood. […] OMS is associated in approximately 50% of pediatric cases with a neuroblastoma; this tumour is usually (but not always) of low grade with a good oncological outcome. […] OMS may have a paraneoplastic, parainfectious or idiopathic origin. […] In the majority of pediatric paraneoplastic cases, a neuroblastoma is found. […] The diagnosis is clinical, based on the presence of 3 out of the 4 following criteria: 1) neuroblastoma, 2) opsoclonus, 3) a movement disorder with myoclonus and/or ataxia, and 4) behavioural and/or sleep disturbance. […] Treatment usually includes resection of the neuroblastoma if present; occasionally, higher grade neuroblastoma may require chemotherapy. […] Outcome is variable. Some children have a monophasic illness, respond well to steroids and have little or no sequelae. Others may be treatment-resistant, have a chronic relapsing course and motor, cognitive and/or behavioral sequelae.

• #5

  https://link.springer.com/article/10.1007/s00415-016-8357-z

  A French pharmacovigilance database study […] reported an incidence of drug-induced myoclonus of 0.2% (423/185.634 reported adverse events over a 20-year period), which might be an underestimation due to underreporting. Our literature survey is not suitable to extract epidemiological data, but the large number of case reports that we identified does suggest that drug-induced myoclonus is not an uncommon phenomenon in movement disorder consultations. […] However, in many cases, myoclonus appeared shortly after the prescription of a new (and presumably causally involved) drug, and disappeared again readily after this same drug was stopped, suggesting a causal relationship. […] Our survey as well as the French pharmacovigilance database study found that the most important groups of drugs with links to myoclonus are: opiates, antidepressants, antipsychotic drugs, and antibiotics. However, drug-induced myoclonus may also be caused by a wide variety of other drugs. Drug-induced myoclonus is usually reversible upon discontinuation of the offending drug, and this stresses the importance of making the correct diagnosis of drug-induced myoclonus. Importantly, the phenomenology of the myoclonus can vary within a group of drugs and even for one particular drug, suggesting that the neuro-anatomical generator varies. From a clinical perspective, this also means that drugs as a cause cannot be discarded based solely on clinical myoclonus characteristics. The precise cellular and neurochemical alterations that make a certain drug cause myoclonus remain largely unclear and therefore need further study.

• #6 Orphanet: Opsoclonus-myoclonus syndrome

  https://www.orpha.net/en/disease/detail/1183

  The annual incidence is estimated at around 1/5,000,000. […] OMS typically presents between 1 and 3 years of age, although it can occur earlier or later in childhood. […] OMS is associated in approximately 50% of pediatric cases with a neuroblastoma; this tumour is usually (but not always) of low grade with a good oncological outcome. […] OMS may have a paraneoplastic, parainfectious or idiopathic origin. […] In the majority of pediatric paraneoplastic cases, a neuroblastoma is found. […] The diagnosis is clinical, based on the presence of 3 out of the 4 following criteria: 1) neuroblastoma, 2) opsoclonus, 3) a movement disorder with myoclonus and/or ataxia, and 4) behavioural and/or sleep disturbance. […] Treatment usually includes resection of the neuroblastoma if present; occasionally, higher grade neuroblastoma may require chemotherapy. […] Outcome is variable. Some children have a monophasic illness, respond well to steroids and have little or no sequelae. Others may be treatment-resistant, have a chronic relapsing course and motor, cognitive and/or behavioral sequelae.

• #6

  https://link.springer.com/article/10.1007/s00415-016-8357-z

  A French pharmacovigilance database study […] reported an incidence of drug-induced myoclonus of 0.2% (423/185.634 reported adverse events over a 20-year period), which might be an underestimation due to underreporting. Our literature survey is not suitable to extract epidemiological data, but the large number of case reports that we identified does suggest that drug-induced myoclonus is not an uncommon phenomenon in movement disorder consultations. […] However, in many cases, myoclonus appeared shortly after the prescription of a new (and presumably causally involved) drug, and disappeared again readily after this same drug was stopped, suggesting a causal relationship. […] Our survey as well as the French pharmacovigilance database study found that the most important groups of drugs with links to myoclonus are: opiates, antidepressants, antipsychotic drugs, and antibiotics. However, drug-induced myoclonus may also be caused by a wide variety of other drugs. Drug-induced myoclonus is usually reversible upon discontinuation of the offending drug, and this stresses the importance of making the correct diagnosis of drug-induced myoclonus. Importantly, the phenomenology of the myoclonus can vary within a group of drugs and even for one particular drug, suggesting that the neuro-anatomical generator varies. From a clinical perspective, this also means that drugs as a cause cannot be discarded based solely on clinical myoclonus characteristics. The precise cellular and neurochemical alterations that make a certain drug cause myoclonus remain largely unclear and therefore need further study.

• #7 Orphanet: Opsoclonus-myoclonus syndrome

  https://www.orpha.net/en/disease/detail/1183

  The annual incidence is estimated at around 1/5,000,000. […] OMS typically presents between 1 and 3 years of age, although it can occur earlier or later in childhood. […] OMS is associated in approximately 50% of pediatric cases with a neuroblastoma; this tumour is usually (but not always) of low grade with a good oncological outcome. […] OMS may have a paraneoplastic, parainfectious or idiopathic origin. […] In the majority of pediatric paraneoplastic cases, a neuroblastoma is found. […] The diagnosis is clinical, based on the presence of 3 out of the 4 following criteria: 1) neuroblastoma, 2) opsoclonus, 3) a movement disorder with myoclonus and/or ataxia, and 4) behavioural and/or sleep disturbance. […] Treatment usually includes resection of the neuroblastoma if present; occasionally, higher grade neuroblastoma may require chemotherapy. […] Outcome is variable. Some children have a monophasic illness, respond well to steroids and have little or no sequelae. Others may be treatment-resistant, have a chronic relapsing course and motor, cognitive and/or behavioral sequelae.

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