Mioklonie
Diagnostyka i diagnoza

Mioklonie to nagłe, krótkotrwałe, mimowolne skurcze mięśni, które mogą mieć różne pochodzenie anatomiczne: korowe, podkorowe, rdzeniowe lub obwodowe. Diagnostyka opiera się na szczegółowym wywiadzie, badaniu neurologicznym oraz kluczowych badaniach elektrofizjologicznych, takich jak EEG, EMG i potencjały wywołane (np. SSEP). EEG pozwala na identyfikację mioklonii korowych i ewentualnych zmian napadowych, EMG ocenia aktywność mięśniową, a korelacja EEG-EMG umożliwia precyzyjną klasyfikację fizjologiczną. Badania obrazowe, przede wszystkim MRI, służą do wykrywania zmian strukturalnych w OUN, a badania laboratoryjne (ocena funkcji nerek, wątroby, elektrolitów, markerów autoimmunologicznych) oraz płynu mózgowo-rdzeniowego pomagają wykluczyć przyczyny metaboliczne, infekcyjne i zapalne. W wybranych przypadkach wskazane są badania genetyczne, zwłaszcza przy podejrzeniu dziedzicznych zespołów, takich jak zespół mioklonia-dystonia (mutacja genu SGCE) czy postępujące padaczki miokloniczne.

Mioklonie – Diagnostyka

Mioklonie (ang. Myoclonus) to nagłe, krótkotrwałe, mimowolne skurcze mięśni, które mogą dotyczyć pojedynczego mięśnia, grupy mięśni lub całego ciała. Mioklonie nie są uznawane za specyficzną diagnozę, lecz raczej za objaw kliniczny, który może występować w przebiegu różnych chorób neurologicznych.12 Podejście diagnostyczne ma dwa główne cele: (1) identyfikację części układu nerwowego, która jest źródłem mioklonii oraz (2) ustalenie przyczyny ich występowania.1

Wywiad i badanie fizykalne

Diagnostyka mioklonii rozpoczyna się od dokładnego wywiadu lekarskiego i szczegółowego badania neurologicznego.12 Ze względu na dużą liczbę możliwych przyczyn mioklonii, niezbędne jest zebranie dokładnego wywiadu, kliniczna charakterystyka mioklonii oraz poszukiwanie dodatkowych objawów w badaniu przedmiotowym, co pozwala zawęzić listę potencjalnych badań diagnostycznych.1

Lekarz powinien zwrócić uwagę na:12

  • Czas trwania objawów i ich progresję
  • Występowanie objawów towarzyszących
  • Historię chorób współistniejących
  • Aktualnie przyjmowane leki
  • Wywiad rodzinny

Podczas badania neurologicznego ocenia się dystrybucję anatomiczną mioklonii (ogniskowe, wieloogniskowe, uogólnione), związek z aktywnością (spoczynkowe, akcyjne), a także poszukuje się innych objawów neurologicznych, które mogą wskazywać na konkretną przyczynę.12

Badania elektrofizjologiczne

Badania elektrofizjologiczne są kluczowe dla diagnostyki mioklonii. Pozwalają określić, czy mioklonie pochodzą z kory mózgowej, struktur podkorowych czy rdzenia kręgowego, co ma istotne znaczenie zarówno diagnostyczne, jak i terapeutyczne.12

Do najważniejszych badań elektrofizjologicznych należą:12

Elektroencefalografia (EEG) – rejestruje aktywność elektryczną mózgu, pomagając ustalić, czy mioklonie mają pochodzenie korowe oraz czy występują zmiany napadowe wskazujące na padaczkę.1 EEG jest szczególnie użyteczne w przypadku mioklonii korowych, gdzie może wykazać charakterystyczne wyładowania.2

Elektromiografia (EMG) – polega na umieszczeniu elektrod na mięśniach objętych skurczami mioklonicznymi. Urządzenie rejestruje aktywność elektryczną mięśni zarówno w spoczynku, jak i podczas skurczu. Sygnały te pomagają określić wzorzec i pochodzenie mioklonii.1 Badanie EMG może wykazać charakterystyczne cechy różnych typów mioklonii.2

Badania potencjałów wywołanych – mierzą aktywność elektryczną mózgu, pnia mózgu i rdzenia kręgowego wywołaną dotykiem, dźwiękiem, bodźcami wzrokowymi i innymi stymulacjami.1 Somatosensoryczne potencjały wywołane (SSEP) są szczególnie ważne w diagnostyce mioklonii korowych.2

Połączenie EEG z EMG (korelacje EEG-EMG) dostarcza istotnych informacji o miokloniach i pozwala na dokładniejszą klasyfikację fizjologiczną.1 Na podstawie badań elektrofizjologicznych mioklonie można sklasyfikować jako korowe, korowo-podkorowe, podkorowe-niesegmentalne, segmentalne i obwodowe.1

Badania obrazowe

Badania obrazowe mogą być kluczowe dla identyfikacji strukturalnych przyczyn mioklonii:12

Rezonans magnetyczny (MRI) – pozwala na wykrycie zmian strukturalnych w mózgu lub rdzeniu kręgowym, takich jak guzy, uszkodzenia, zaniki korowe czy zmiany zapalne, które mogą być przyczyną mioklonii.1 MRI jest badaniem obrazowym z wyboru u pacjentów z podejrzeniem mioklonii.2

Tomografia komputerowa (CT) – może być alternatywą dla MRI, szczególnie w przypadkach, gdy wykonanie rezonansu magnetycznego jest niemożliwe lub przeciwwskazane.1

Badania laboratoryjne

Badania laboratoryjne są niezbędne do wykluczenia potencjalnych przyczyn metabolicznych i infekcyjnych mioklonii:12

Badania krwi i moczu – służą do oceny:

  • Funkcji nerek i wątroby
  • Poziomów elektrolitów (sód, potas, wapń, magnez)
  • Poziomu glukozy
  • Obecności toksyn lub leków
  • Markerów chorób autoimmunologicznych
  • Enzymów wskazujących na choroby metaboliczne

Badania płynu mózgowo-rdzeniowego – mogą być pomocne w wykrywaniu chorób zapalnych, infekcyjnych lub neurodegeneracyjnych ośrodkowego układu nerwowego.1 W niektórych przypadkach, jak np. w podejrzeniu choroby Creutzfeldta-Jakoba, może być wykonane badanie białka 14-3-3 w płynie mózgowo-rdzeniowym.1

Badania genetyczne – mogą być wskazane w przypadku podejrzenia dziedzicznych form mioklonii, takich jak zespół mioklonii-dystonii związany z mutacją genu SGCE, padaczka-miokloniczna/” title=”postępująca padaczka miokloniczna” class=”to-tag” data-termid=”130874″>postępujące padaczki miokloniczne czy choroby Lafory.12

Klasyfikacja mioklonii na podstawie badań diagnostycznych

Na podstawie przeprowadzonych badań diagnostycznych mioklonie można sklasyfikować na różne sposoby, co ma implikacje terapeutyczne:12

Klasyfikacja anatomiczna

W zależności od miejsca pochodzenia w układzie nerwowym, mioklonie można podzielić na:12

Mioklonie korowe – najczęstszy typ mioklonii obserwowany klinicznie, związany z nieprawidłową nadpobudliwością kory czuciowo-ruchowej.1 Charakteryzują się krótkim czasem trwania i są często prowokowane przez bodźce sensoryczne lub ruchy dobrowolne.2

Mioklonie podkorowe – pochodzące ze struktur poniżej kory mózgowej, takich jak jądra podstawne, wzgórze czy pień mózgu.1

Mioklonie rdzeniowe – wywodzące się z rdzenia kręgowego, często rytmiczne i ograniczone do mięśni unerwianych przez określony segment rdzenia.1

Mioklonie obwodowe – rzadkie, pochodzące z obwodowego układu nerwowego.1

Klasyfikacja etiologiczna

W zależności od przyczyny, mioklonie można sklasyfikować jako:12

Fizjologiczne – występujące u zdrowych osób, np. mioklonie podczas zasypiania.1

Esencjalne – bez zidentyfikowanej przyczyny organicznej, mogą mieć podłoże genetyczne.1

Padaczkowe – występujące jako część napadów padaczkowych, np. w młodzieńczej padaczce mioklonicznej.12

Objawowe – wtórne do innych chorób neurologicznych, metabolicznych, toksycznych lub infekcyjnych.1 Do tej grupy należą między innymi:

  • Choroby neurodegeneracyjne (choroba Alzheimera, choroba Creutzfeldta-Jakoba)
  • Zaburzenia metaboliczne
  • Zatrucia lekami lub toksynami
  • Encefalopatie
  • Urazy mózgu lub rdzenia kręgowego
  • Guzy mózgu
  • Choroby zakaźne ośrodkowego układu nerwowego

Diagnostyka różnicowa mioklonii

Mioklonie należy różnicować z innymi zaburzeniami ruchowymi, takimi jak:12

  • Drżenie – charakteryzuje się rytmicznymi, oscylacyjnymi ruchami, w przeciwieństwie do nagłych, szarpniętych ruchów mioklonicznych
  • Dystonia – powolne, skręcające ruchy i nieprawidłowe postawy ciała
  • Tiki – stereotypowe, powtarzalne ruchy, często poprzedzone uczuciem przymusu wykonania ruchu
  • Pląsawica – nieregularne, płynne ruchy przypominające taniec
  • Akatyzja – niepokój ruchowy, niemożność pozostania w bezruchu
  • Zaburzenia czynnościowe (psychogenne) – mogą naśladować mioklonie, ale często mają charakterystyczne cechy sugerujące pochodzenie psychogenne

Szczególnie trudne może być odróżnienie mioklonii od tików lub zaburzeń czynnościowych. Badania elektrofizjologiczne są często niezbędne do właściwej diagnozy różnicowej.12

Diagnostyka specyficznych zespołów mioklonicznych

Zespół opsoklonia-mioklonia

Zespół opsoklonia-mioklonia (OMS), zwany również zespołem „tańczących oczu”, to rzadkie schorzenie autoimmunologiczne, charakteryzujące się opsoklonią (chaotycznymi, wielokierunkowymi ruchami gałek ocznych), miokloniami i ataksją.12

Diagnostyka OMS obejmuje:12

  • Badanie neurologiczne oceniające obecność kardynalnych objawów (opsoklonia, mioklonie, ataksja)
  • Badania obrazowe (MRI mózgu)
  • Badania w kierunku neuroblastoma (głównie u dzieci) – scyntygrafia MIBG, badania moczu (kwas wanilinomigdałowy, kwas homowanilinowy)
  • Badanie płynu mózgowo-rdzeniowego w poszukiwaniu objawów zapalenia
  • Badania w kierunku zakażeń jako potencjalnej przyczyny

Zgodnie z nowymi kryteriami diagnostycznymi, rozpoznanie OMS wymaga obecności trzech z czterech następujących objawów: szybkie ruchy gałek ocznych (opsoklonia lub trzepotanie oczne), ataksja i/lub mioklonie, zaburzenia zachowania lub snu oraz neuroblastoma (u dzieci).1

Zespół mioklonia-dystonia

Zespół mioklonia-dystonia (MDS) to rzadkie zaburzenie ruchowe charakteryzujące się łagodną do umiarkowanej dystonią wraz z „błyskawicznymi” szarpnięciami mioklonicznymi.12

Diagnostyka MDS obejmuje:12

  • Dokładny wywiad i badanie neurologiczne
  • Badania obrazowe (MRI) – zwykle prawidłowe
  • Badania elektrofizjologiczne (EEG, EMG)
  • Badania genetyczne – mutacja genu SGCE jest najczęstszą przyczyną dziedzicznego MDS

Rozpoznanie opiera się na obecności charakterystycznych objawów klinicznych i może być potwierdzone badaniami genetycznymi.1 Zespół mioklonia-dystonia jest dziedziczony autosomalnie dominująco, jednak gen SGCE podlega imprintingowi matczynemu, co oznacza, że w większości przypadków (95%) pacjenci, którzy odziedziczyli mutację od matki, pozostaną zdrowi, a tylko ci, którzy odziedziczyli mutację od ojca, rozwiną MDS.2

Postępujące padaczki miokloniczne

Postępujące padaczki miokloniczne (PME) to rzadka grupa dziedzicznych chorób neurodegeneracyjnych charakteryzujących się miokloniami, opornością na leczenie i postępującym pogorszeniem neurologicznym.12

Diagnostyka PME opiera się na:1

  • Objawach klinicznych (mioklonie, napady padaczkowe, postępujące pogorszenie funkcji poznawczych)
  • Oporności na standardowe leki przeciwpadaczkowe
  • Badaniu EEG (typowe zmiany napadowe)
  • Badaniach genetycznych (w zależności od podejrzewanego typu PME)
  • Pomiarach aktywności enzymów
  • Biopsji skóry i mięśni (w niektórych przypadkach)

Do najczęstszych przyczyn PME należą: choroba Unverrichta-Lundborga, choroba Lafory, ceroidolipofuscynoza neuronalna, zaburzenia mitochondrialne oraz rzadsze jednostki chorobowe jak zanik jądra zębatego-czerwiennego-gałkowego-Luysiego, młodzieńcza choroba Huntingtona i inne.12

Mioklonie – diagnostyka u specyficznych grup pacjentów

Mioklonie u dzieci

Diagnostyka mioklonii u dzieci wymaga szczególnej uwagi, gdyż etiologia może być inna niż u dorosłych.1 U niemowląt i małych dzieci należy zwrócić uwagę na:12

  • Łagodne mioklonie senne noworodków (BNSM) – łagodny stan występujący u niemowląt, charakteryzujący się miokloniami podczas snu. Diagnoza wymaga EEG, które nie wykazuje aktywności napadowej. Około 95% przypadków ustępuje do 6. miesiąca życia.
  • Młodzieńcza padaczka miokloniczna – jedna z najczęstszych form padaczki u nastolatków, charakteryzująca się miokloniami po przebudzeniu. Diagnoza opiera się na EEG i obrazie klinicznym.
  • Zespół opsoklonia-mioklonia – szczególnie u dzieci należy wykluczyć neuroblastoma jako przyczynę.

Mioklonie u osób starszych

U osób starszych mioklonie mogą być objawem:12

  • Chorób neurodegeneracyjnych (choroba Alzheimera, choroba Creutzfeldta-Jakoba)
  • Encefalopatii metabolicznych (zaburzenia wątroby, nerek)
  • Działań niepożądanych leków
  • Zaburzeń elektrolitowych

Dawki leków stosowanych w terapii mioklonii, takich jak klonazepam czy walproinian, mogą wymagać dostosowania u osób starszych.1

Mioklonie – diagnostyka, rozpoznanie

Diagnostyka mioklonii wymaga systematycznego podejścia z wykorzystaniem wielu metod badawczych. Właściwe rozpoznanie typu mioklonii i ich przyczyny ma kluczowe znaczenie dla wyboru odpowiedniego leczenia.12

Plan diagnostyczny powinien obejmować:12

  • Szczegółowy wywiad lekarski
  • Dokładne badanie neurologiczne
  • Badania elektrofizjologiczne (EEG, EMG, potencjały wywołane)
  • Badania obrazowe (MRI, ewentualnie CT)
  • Badania laboratoryjne
  • W wybranych przypadkach badania genetyczne

Głównym celem diagnostyki jest ustalenie, czy mioklonie są:12

  • Procesem pierwotnym
  • Pochodzenia padaczkowego
  • Wtórne do innego procesu chorobowego

Prawidłowa diagnoza pozwala na wdrożenie właściwego leczenia, które może być ukierunkowane na przyczynę lub mieć charakter objawowy.12

Typ mioklonii Cechy charakterystyczne Badania diagnostyczne Typowe przyczyny
Mioklonie korowe Krótkotrwałe, często prowokowane bodźcami sensorycznymi lub ruchami dobrowolnymi EEG, SSEP, korelacja EEG-EMG Padaczki miokloniczne, encefalopatia anoksyczna, choroby neurodegeneracyjne
Mioklonie podkorowe Dłużej trwające, mogą być rytmiczne Prawidłowe EEG, badania obrazowe Choroby zwyrodnieniowe jąder podstawy, zaburzenia ruchowe polekowe
Mioklonie rdzeniowe Rytmiczne, ograniczone do segmentu rdzeniowego EMG, MRI rdzenia kręgowego Uszkodzenia rdzenia kręgowego, mioklonie propriospinalne
Mioklonie obwodowe Ograniczone do pojedynczego nerwu lub mięśnia EMG, badania przewodnictwa nerwowego Uszkodzenia nerwów obwodowych, mioklonie uszne środkowe
Mioklonie czynnościowe Zmienne, podatne na rozproszenie uwagi, poprzedzone objawami zwiastunowymi Prawidłowe badania elektrofizjologiczne, potencjał gotowości w EEG Zaburzenia czynnościowe

Podsumowanie diagnostyki mioklonii

Diagnostyka mioklonii to złożony proces wymagający indywidualnego podejścia do każdego pacjenta. Wymaga ona współpracy między pacjentem, jego rodziną i zespołem medycznym w celu dokładnego rozpoznania i opracowania spersonalizowanego planu leczenia.12

Kluczowe elementy w diagnostyce mioklonii obejmują:12

  • Identyfikację wzorca mioklonii (dystrybucja anatomiczna, częstotliwość, czynniki prowokujące)
  • Określenie fizjologii mioklonii za pomocą badań elektrofizjologicznych
  • Poszukiwanie potencjalnie odwracalnych przyczyn
  • Rozpoznanie specyficznych zespołów klinicznych związanych z miokloniami

Badania elektrofizjologiczne są nieocenionym narzędziem w diagnostyce i klasyfikacji anatomicznej mioklonii, co ma istotne znaczenie przy podejmowaniu decyzji dotyczących późniejszego leczenia.1 Właściwa diagnoza umożliwia wdrożenie odpowiedniego leczenia ukierunkowanego na konkretny typ mioklonii, co może znacząco poprawić jakość życia pacjentów.2

Kolejne rozdziały

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  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Myoclonus | Baylor Medicine
    https://www.bcm.edu/healthcare/specialties/neurology/parkinsons-disease-and-movement-disorders/myoclonus
    Myoclonus is the medical term for sudden, rapid, brief, involuntary jerking movement of a body part or the entire body. […] Many different neurological disorders can cause myoclonus; therefore, neurologists consider it a symptom of disease rather than a specific diagnosis. […] Classifying the many different kinds of myoclonus is difficult, as the causes, clinical effects, and responses to treatment vary greatly. […] The diagnostic approach to a patient with myoclonus has two objectives: (1) identifying what part of the nervous system is producing myoclonus and (2) establishing the cause. […] Physicians may order certain tests to learn what is causing the myoclonus. […] Although some cases of myoclonus are caused by an injury to the peripheral nerves, most forms of myoclonus are caused by a disturbance of the central nervous system.
  • #1 Myoclonus – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/myoclonus/diagnosis-treatment/drc-20350462
    To diagnose myoclonus, your health care provider reviews your medical history and symptoms and conducts a physical examination. […] You may have tests to find the cause and rule out other potential causes of myoclonus. In some cases, imaging tests or nerve tests may be needed. […] Electroencephalography (EEG). This procedure records the electrical activity of the brain. It may help determine where in the brain the myoclonus originates. […] Electromyography (EMG). In this procedure, electrodes are placed on multiple muscles, especially muscles that are involved in the jerking. […] An instrument records the electrical activity from the muscles when they are at rest and when they are contracted, such as when you bend your arm. These signals help determine the pattern and origin of the myoclonus.
  • #1 Myoclonic disorders: a practical approach for diagnosis and treatment
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3036960/
    Myoclonus is a sudden, brief, involuntary muscle jerk. It is caused by abrupt muscle contraction, in the case of positive myoclonus, or by sudden cessation of ongoing muscular activity, in the case of negative myoclonus (NM). Myoclonus may be classified in a number of ways, although classification based on the underlying physiology is the most useful from the therapeutic viewpoint. Given the large number of possible causes of myoclonus, it is essential to take a good history, to clinically characterize myoclonus and to look for additional findings on examination in order to limit the list of possible investigations. […] Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. […] A single pharmacological agent rarely control myoclonus and therefore polytherapy with a combination of drugs, often in large dosages, is usually needed. Generally, antiepileptic drugs such as valproate, levetiracetam and piracetam are effective in cortical myoclonus, but less effective in other forms of myoclonus. Clonazepam may be helpful with all types of myoclonus.
  • #1
    https://journals.lww.com/annalsofian/fulltext/2021/24030/myoclonus__a_review.5.aspx
    Myoclonus can be classified in various ways according to body distribution, relation to activity, neurophysiology, and etiology. […] Given the diverse etiologies of myoclonus, a thorough history and detailed physical examination are key to the evaluation of myoclonus. […] Though symptomatic treatment is required in the majority of cases, treatment of the underlying etiology should be the primary aim whenever possible. […] The first critical step in evaluation is a thorough history and physical examination. […] After a comprehensive history and physical examination, one should be able to define the etiological classification of myoclonus (physiological, essential, epileptic, or symptomatic). […] Neurophysiological testing helps in identifying the presumed physiology of myoclonus. […] The most important factor in the management of myoclonus is the treatment of underlying etiology.
  • #1 The Importance of Identifying Myoclonus in the Setting of Mental Status Abnormalities: Differential Diagnosis and Treatment
    https://www.psychiatrist.com/pcc/myoclonus-and-mental-status-abnormalities/
    Have you ever wondered whether the presence of myoclonus helped to create or narrow your differential diagnosis? […] Have you ever been uncertain about whether or how to treat focal or diffuse myoclonus? […] Myoclonus often accompanies changes in mental status that may be useful in guiding the differential diagnosis and workup. […] Clinical information, such as the time course, accompanying cognitive deficits, medical history, and current medications, provides a useful framework for narrowing the differential diagnosis. […] Laboratory work should be tailored to assess for the presence of organ dysfunction that may account for metabolic encephalopathies; intracranial imaging, electroencephalography, and lumbar puncture are adjunctive diagnostics that can also be considered. […] The evaluation and treatment of myoclonus begins with a detailed history and physical examination, targeted diagnostic studies, and, often, empiric therapeutics, which in and of themselves have diagnostic value.
  • #1 Myoclonus – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/myoclonus/diagnosis-treatment/drc-20350462
    Evoked potential studies. These tests measure the electrical activity of the brain, brainstem and spinal cord that is triggered by touch, sound, sight and other stimuli. […] Magnetic resonance imaging (MRI). An MRI scan may be used to check for structural problems or tumors inside the brain or spinal cord, which may cause the myoclonus symptoms. […] Laboratory tests. Your health care provider may suggest genetic testing to help identify possible causes of myoclonus. Blood or urine tests may be needed to check for metabolic disorders, autoimmune disease, diabetes, and kidney or liver disease. […] Treatment of myoclonus works best if you can stop the problem that’s causing it. […] Most of the time, however, the underlying cause can’t be cured or eliminated. In these cases, treatment is aimed at reducing myoclonus symptoms, especially when they’re disabling.
  • #1 Electrophysiologic Assessments of Involuntary Movements: Tremor and Myoclonus
    https://www.e-jmd.org/journal/view.php?number=93
    Myoclonus is a quick, involuntary movement. […] Electrophysiological studies may helpful in the evaluation of myoclonus, not only for confirming the clinical diagnosis but also for understanding the underlying physiological mechanisms. […] Electroencephalogram (EEG)-EMG correlates can give us important information about myoclonus. […] Myoclonus can be classified in various ways, depending on which aspect is focused on but it is usually classified with the underlying physiologic mechanism or the causation. […] According to the pathophysiologic mechanisms, myoclonus is classified into three main categories; cortical, subcortical, and spinal. […] Electrophysiological studies can show an anatomical localization for myoclonus. […] The anatomical origin of the myoclonus sometimes provides good hints as to the treatment.
  • #1 Assessment and Treatment of Myoclonus: A Review – touchNEUROLOGY
    https://touchneurology.com/movement-disorders/journal-articles/assessment-and-treatment-of-myoclonus-a-review/
    By using the aforementioned neurophysiological testing procedures, one can classify myoclonus as cortical, cortical-subcortical, subcortical-nonsegmental, segmental and peripheral. […] A structured clinical approach is useful to ensure that all potential aetiologies are investigated for each patient. […] Following the history and physical examination, ancillary testing is the next step in identifying possible aetiologies in patients with myoclonus. […] Treatment of myoclonus differs vastly depending on the aetiology. […] Treatment should be directed at any underlying cause of myoclonus where possible or feasible. […] When no other treatable cause is found, treatment for myoclonus should be targeted at specific neurophysiological classifications.
  • #1 Myoclonus Treatment and Management | UVA Health
    https://uvahealth.com/services/parkinsons-movement-disorders/myoclonus-treatment
    We may do tests and imaging to better understand what’s causing your symptoms: […] Electroencephalogram (EEG) […] Magnetic resonance imaging (MRI) […] Computed tomography (CT) scan.
  • #1 Rapid cognitive decline and myoclonus in a 52-year-old woman | Cleveland Clinic Journal of Medicine
    https://www.ccjm.org/content/88/10/572
    Thus, sCJD should be included in the differential diagnosis in any patient presenting with a history of rapidly progressive dementia and myoclonus. […] The 14-3-3 protein is believed to be a marker of massive neuronal disruption and leakage of brain proteins into the CSF. […] The American Academy of Neurology previously recommended CSF testing for the 14-3-3 protein to decrease uncertainty of diagnosis in patients with rapidly progressive dementia and strong suggestion of sCJD. […] On day 26, the off-site CSF analysis returned positive results for RT-QuIC, 14-3-3 protein, and t-tau protein. In combination, these results are nearly 100% specific for sCJD and make other causes of dementia, such as Alzheimer disease, frontotemporal dementia, or Lewy body dementia, unlikely.
  • #1 Assessment and Treatment of Myoclonus: A Review – touchNEUROLOGY
    https://touchneurology.com/movement-disorders/journal-articles/assessment-and-treatment-of-myoclonus-a-review/
    Myoclonus is defined as sudden, brief, shock-like contractions of muscles, and it can be a challenging diagnosis for the clinician to face. […] Neurophysiological classification of myoclonus, using both electroencephalogram and electromyography, can be very helpful in elucidating the underlying aetiology. […] The purpose of this article is to assist the clinician in understanding the aetiologies of myoclonus, as well as to serve as a guide in the diagnostic workup and treatment of myoclonus. […] Myoclonus classification is based on multiple characteristics, most commonly including aetiology, anatomical distribution and physiology. […] Neurophysiological testing for myoclonus helps to further localize the abnormal activation within the nervous system. […] Electroencephalogram (EEG) is an essential part of the workup for myoclonus, as myoclonus can be epileptic and most commonly arises from cortical or cortical-subcortical physiology.
  • #1
    https://journals.lww.com/annalsofian/fulltext/2021/24030/myoclonus__a_review.5.aspx
    The best strategy for symptomatic treatment is to define the physiological classification of myoclonus with the help of neurophysiological test/s because different drugs act in different physiological types of myoclonus. […] Cortical myoclonus is the most common form of myoclonus in clinical practice. […] The neurophysiological hallmark of cortical myoclonus is abnormal hyperexcitability of the sensorimotor cortex. […] The drug of choice for cortical myoclonus is levetiracetam, particularly in juvenile myoclonic epilepsy. […] Standard antiepileptic drugs used in cortical myoclonus are not helpful in most types of subcortical-nonsegmental myoclonus.
  • #1 Myoclonus & Startle
    https://www.movementdisorders.org/MDS/About/Movement-Disorder-Overviews/Myoclonus–Startle.htm
    Myoclonus is characterized by sudden, brief, involuntary jerks of a muscle or group of muscles. The classification of myoclonus can be made anatomical, clinical or etiological; however, the anatomical origin of jerks is most commonly used in clinical practice. With help of electrophysiological examination using electromyography in combination with electro-encephalography, the jerks can be subdivided in cortical which is the most common subcortical (or non-cortical) including brainstem, spinal, and peripheral myoclonus. The clinical presentation of myoclonus is of added value in the differentiation of these subtypes. […] A wide variety of both acquired and genetic causes are associated with myoclonus, making the diagnostic process of finding the etiology challenging. Both the anatomical substrate and the additional accompanying clinical features provide important information regarding the underlying disease and help guide towards a more specific differential diagnosis. […] Identifying the anatomical substrate is not only helpful in the diagnostic process, but also has consequences for the treatment strategy.
  • #1
    https://link.springer.com/article/10.1007/s00415-010-5531-6
    Propriospinal myoclonus (PSM) is a rare disorder with repetitive flexor, arrhythmic jerks of the trunk, hips and knees. Its generation is presumed to relay in the spinal cord. […] In our case series, secondary PSM was diagnosed in one patient only. 34 patients showed features suggestive of a psychogenic origin of axial jerks. Diagnosis of psychogenic axial jerks was based on clinical clues without additional investigations (n = 8), inconsistent findings at polymyography (n = 15), regular eye blinking preceding jerks (n = 2), or the presence of a Bereitschaftspotential (BP) (n = 9). […] Polymyography is regarded as an essential diagnostic procedure for PSM. […] However, the very EMG pattern that is considered typical for PSM has been observed in healthy volunteers mimicking PSM and in a case of PSM with a probable psychogenic origin.
  • #1 Myoclonus | National Institute of Neurological Disorders and Stroke
    https://www.ninds.nih.gov/health-information/disorders/myoclonus
    Myoclonus usually happens from a disruption of the brain or spinal cord. It can also happen after an injury to the peripheral nerves (nerves outside of the brain and spinal cord). […] Diagnosing myoclonus […] Myoclonus can happen by itself or as a symptom of a wide variety of nervous system disorders. […] The two general types of myoclonus are: […] It can be difficult to figure out whats causing or triggering myoclonus, but some common experiences in myoclonus include: […] People may notice a pattern of movement in the jerks or twitches, or they may appear random.
  • #1 Myoclonus | National Institute of Neurological Disorders and Stroke
    https://www.ninds.nih.gov/health-information/disorders/myoclonus
    Myoclonus can also be categorized based on where the movement starts in the nervous system. […] After reviewing a persons medical history and a physical exam, a doctor may order the following tests to confirm a diagnosis of myoclonus: […] There are no medications designed to specifically treat myoclonus, but medications that reduce an overactive nervous system are generally used to relieve symptoms. […] Myoclonus may also happen with infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, chemical or drug intoxication, lipid storage diseases, autoimmune inflammatory conditions, COVID-19, or metabolic disorders. […] Studies suggest that myoclonus usually begins in the cerebral cortex. However, scientists dont yet fully understand the specific factors that cause myoclonus.
  • #1 Myoclonus: What It Is, Causes, Symptoms, Treatment & Types
    https://my.clevelandclinic.org/health/symptoms/15301-myoclonus-muscle-twitch
    Myoclonus can also be a symptom of serious nervous system conditions. […] Myoclonus (pronounced my-OCK-lon-us) can happen in people who are healthy at some point in their life. However, its also a possible symptom of several medical conditions, some of which are serious. […] Myoclonus can happen with or because of seizures (especially myoclonic seizures). This includes seizures due to different forms of epilepsy, such as Lennox-Gastaut syndrome or juvenile myoclonic epilepsy. […] When myoclonus is a symptom of another condition, experts call this secondary myoclonus. […] Myoclonus happens very quickly and often without warning. The normal and essential forms of it arent preventable. […] If myoclonus keeps happening especially if it starts disrupting your usual activities and routine you should see a healthcare provider. Myoclonus that disrupts your life may be a sign of more serious issues.
  • #1 Myoclonus: An Electrophysiological Diagnosis | Scilit
    https://www.scilit.com/publications/cee6f03cb838bcd187699ffdf17722d9
    Myoclonus: An Electrophysiological Diagnosis […] Many different movement disorders have similar “jerk-like” phenomenology and can be misconstrued as myoclonus. […] Different types of myoclonus also share similar phenomenological characteristics that can be difficult to distinguish solely based on clinical exam. […] However, they have distinctive physiologic characteristics that can help refine categorization of jerk-like movements. […] In this review, we briefly summarize the clinical, physiologic, and pathophysiologic characteristics of different types of myoclonus. […] The methodology and technical considerations for the electrophysiologic assessment of jerk-like movements are reviewed. […] A simplistic pragmatic approach for the classification of myoclonus and other jerk-like movements based on objective electrophysiologic characteristics is proposed.
  • #1 Opsoclonus-Myoclonus Syndrome | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/opsoclonus-myoclonus-syndrome
    How is opsoclonus-myoclonus syndrome diagnosed? To diagnose OMS, your doctor will review your childs medical history and examine their nervous system. Your child may also need magnetic resonance imaging (MRI) to create two- and three-dimensional images of their brain, as well as imaging to look for a neuroblastoma. […] Your doctor may test the fluid around your childs brain and spine (cerebrospinal fluid) for signs of inflammation. […] Your childs doctor may recommend immunotherapy as treatment for opsoclonus-myoclonus syndrome. Immunotherapy is a type of treatment that helps keep the bodys immune system from attacking the brain. Standard immunotherapy treatment for OMS is started soon after diagnosis and usually continues for at least one to two years. The goal of treatment is a decrease or disappearance (remission) of symptoms.
  • #1 Opsoclonus Myoclonus Syndrome/Dancing Eye syndrome (OMS/DES) | Great Ormond Street Hospital
    https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/opsoclonus-myoclonus-syndrome-dancing-eye-syndrome-omsdes/
    Opsoclonus myoclonus syndrome (OMS), also known as dancing eye syndrome (DES), is a rare neurological condition which develops over days or weeks in early childhood. […] The occurrence of marked irritability with behavioural change and sleep disturbance in an infant with new onset ataxia is one of the strongest clues that this may be OMS/DES. […] The symptoms of opsoclonus myoclonus syndrome are very variable and may not all be present at the same time. Typically opsoclonus myoclonus appears around the age of one to two years but can occur at any time in childhood. […] There is much discussion around how best to diagnose opsoclonus myoclonus syndrome and recently diagnostic criteria have been agreed. To be diagnosed with opsoclonus myoclonus syndrome, a child must have three of the following four conditions: rapid eye movement (opsoclonus or ocular flutter), ataxia (unsteadiness) or jerky muscle spasms (myoclonus), behavioural or sleep problems and neuroblastoma.
  • #1 Orphanet: Myoclonus-dystonia syndrome
    https://www.orpha.net/en/disease/detail/36899
    Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like’ myoclonic jerks. […] Diagnosis is based on the presence of characteristic clinical symptoms. Neuroimaging studies are normal. Genetic molecular testing of SGCE can confirm the diagnosis. […] 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. Benzodiazepines (clonazepam) and antiepileptic drugs (valproate, levetiracetam) are effective in relieving myoclonus and tremor, but patients should be carefully monitored.
  • #1 Myoclonus Dystonia | Dystonia Medical Research Foundation
    https://dystonia-foundation.org/what-is-dystonia/types-dystonia/myoclonus-dystonia/
    Myoclonus dystonia can be challenging to diagnosis due to the variability of symptoms. […] If possible, seek an evaluation from a physician who has experience diagnosing movement disorders, like a neurologist or movement disorder specialist. The diagnostic process typically involves a thorough medical and familiar history, a physical examination to assess motor function, and sometimes genetic testing as myoclonus dystonia can have a genetic component. Electromyography (EMG) and brain imaging, such as MRI, may be used to rule out other potential causes of the symptoms. Collaboration between the patient, their family, and medical professionals is essential for an accurate diagnosis and for developing a tailored treatment plan to manage the symptoms associated with the disorder.
  • #1 Progressive myoclonus epilepsy – Wikipedia
    https://en.wikipedia.org/wiki/Progressive_myoclonus_epilepsy
    Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. […] Diagnosing PME is difficult due to their genetic heterogeneity and the lack of a genetic mutation identified in some patients. […] Diagnosis of PME is based on the individual’s signs and symptoms as well as failure to respond to antiepileptic drugs and therapy. […] Therefore, diagnosis is best made using a combination of different tools like signs and symptoms, age of onset, EEG, gene testing, enzyme measurements, and biopsy of skin and muscle. […] The main component setting PME apart from other forms of epilepsy is progressive deterioration and resistance to treatment. […] Therefore, in the early stages of PME the symptoms and EEG may appear like Generalized epilepsy, Juvenile myoclonic epilepsy, benign childhood myoclonic epilepsy, and Huntington’s disease.
  • #1 PROGRESSIVE MYOCLONUS EPILEPSIES (PME)
    https://www.epilepsydiagnosis.org/syndrome/pme-overview.html
    The syndrome progressive myoclonus epilepsies is rare, and composes a group of etiologies that have in common 1) myoclonic seizures that are treatment-resistant, 2) progressive neurological and cognitive deterioration, and 3) slowing of the EEG background that 4) appears in an individual with prior normal development and cognition. […] There are many metabolic and genetic causes of this syndrome. The cause may remain unknown for some patients. […] The majority of cases are caused by: […] Unverricht-Lundborg disease – the commonest cause, seizures begin […] Lafora disease – seizures begin […] Neuronal ceroid lipofuscinoses – this is a group of conditions resulting in accumulation of lipopigments (lipofuscin), now classified by the causative gene. The most prevalent is CLN2 disease. This NCL has onset between 2-4 years, can present with speech delay before seizure onset, then there is developmental regression and vision loss, EEG can show a photoparoxysmal response at low flash frequencies, curvilinear bodies can be seen in cells (e.g. skin, lymphocytes).
  • #1 Pediatric myoclonus in Infants and Newborns – Children’s Health Neurology
    https://www.childrens.com/specialties-services/conditions/myoclonus
    Pediatric myoclonus (myoclonus) is the term for quick, jerking movements in a child’s muscles. These movements are involuntary your child can’t control them. They can have many different causes. Some forms are not serious (benign), while other forms can be symptoms of more serious underlying conditions. […] We diagnose and treat all forms of myoclonus as well as the conditions causing them to give your child the care they need. […] Doctors usually diagnose this condition through a physical exam and careful observation. It can be important to diagnose and treat myoclonus in children early to find the cause and, in some cases, prevent it from getting worse. […] To identify the underlying causes, your care team may also do tests such as an MRI (which creates a picture of the brain), an EEG (which looks at electrical activity in the brain), and an EMG (electromyogram, which evaluates the activity of muscles and the nerves that connect to them). […] In children, myoclonus can be treated by medications or by a type of surgery called deep brain stimulation (DBS). The treatment typically depends on what is causing the myoclonus.
  • #1 Myoclonus: What It Is, Causes, Symptoms, Treatment & Types
    https://my.clevelandclinic.org/health/symptoms/15301-myoclonus-muscle-twitch
    Diagnosing this condition requires an electroencephalogram (EEG). This condition can look similar to seizures, but EEG testing in babies with BNSM wont show seizure activity in their brains. This condition is harmless. About 95% of cases go away by 6 months of age. […] Myoclonus is a brief, sudden muscle movement (like a twitch or spasm). If you notice muscle jerks that are new and/or getting more frequent, you should talk to a healthcare provider. Theyre the best person to help you discover why youre experiencing this and what you can do about it. Many causes of myoclonus are treatable, and early diagnosis and treatment can make a big difference in keeping this conditions effects on your life to a minimum.
  • #1 Rapid cognitive decline and myoclonus in a 52-year-old woman | Cleveland Clinic Journal of Medicine
    https://www.ccjm.org/content/88/10/572
    A 52-year-old woman presented to the emergency department in Las Vegas, NV, with progressively worsening altered mental status for the past 2 weeks. […] On neuropsychiatric examination, the patient had poor concentration and difficulty participating. She had frequent episodes of staring into space with periods of rhythmic jerking of the eyes, head, and bilateral upper extremities (opsoclonus and myoclonus). […] Although this patient’s myoclonus, progressive encephalopathy, and waxing and waning alertness would be an atypical presentation for stroke, this should be ruled out first because of the potential for rapid, irreversible ischemia to neural tissue. […] The patients initial radiologic and laboratory results were largely unremarkable, except for mild CSF protein elevation and cortical ribboning on brain MRI, significant progressive cognitive decline, and myoclonus.
  • #1 Myoclonus – Neurologic Disorders – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/neurologic-disorders/movement-and-cerebellar-disorders/myoclonus
    Myoclonus is a brief, shocklike contraction of a muscle or group of muscles. Diagnosis is clinical and sometimes confirmed by electromyographic testing. Treatment includes correction of reversible causes and, when necessary, oral medications to relieve symptoms. […] Diagnosis of myoclonus is clinical. Testing is done based on clinically suspected causes. Brain imaging is done. […] Treatment of myoclonus begins with correction of underlying metabolic disturbances or other causes if correctable. If a medication is the cause, the medication is stopped, or the dose is reduced. […] Site of origin for myoclonus helps guide symptomatic treatment. For example, valproate, levetiracetam, and piracetam tend to be effective in cortical myoclonus but ineffective in other types of myoclonus. Clonazepam may be effective in all types of myoclonus. Doses of clonazepam or valproate may need to be lower in older adults. In some cases, a combination of medications is necessary. […] If a metabolic disturbance is the cause, correct it, and when necessary, give medications (eg, clonazepam, valproate, levetiracetam) to relieve symptoms.
  • #1 The Importance of Identifying Myoclonus in the Setting of Mental Status Abnormalities: Differential Diagnosis and Treatment
    https://www.psychiatrist.com/pcc/myoclonus-and-mental-status-abnormalities/
    The key to the initial evaluation is to identify whether the myoclonus is most likely a primary process, epileptic in etiology, or secondary to another medical process. […] If the etiology of myoclonus is not immediately revealed by the history and physical examination, selected diagnostic tests should be performed in a step-wise fashion, guided by the differential diagnosis. […] The treatment for myoclonus is predicated on its underlying etiology. […] In instances in which the myoclonus is a primary process or the underlying etiology cannot be easily reversed, treatments are directed toward the underlying mechanism of the myoclonus. […] Accepted therapies for cortical myoclonus include levetiracetam, piracetam, clonazepam, and valproic acid. […] Given their relatively favorable side effect profiles, levetiracetam and piracetam are the preferred initial agents for chronic cortical myoclonus, although multiple agents (in combination) are often needed to achieve the desired effect.
  • #1 Treatment of myoclonus – UpToDate
    https://www.uptodate.com/contents/treatment-of-myoclonus
    Myoclonus is a sudden, involuntary, shock-like movement caused by sudden muscular contraction (positive myoclonus) or inhibition (negative myoclonus). Among movement disorder phenotypes, myoclonus is the most transient: it is essentially the quickest abnormal movement with a given body part. […] Myoclonic movements have many possible etiologies, and treatment is generally guided by the anatomic/physiologic type of myoclonus. Although there are some treatable underlying etiologies, myoclonus management is primarily symptomatic, and medications often have limited benefits. […] Treat the underlying disorder — When the etiology of myoclonus is treatable or reversible, treatment of the underlying condition may partially or completely relieve the myoclonus. Examples include myoclonus caused by an acquired abnormal metabolic state (eg, hepatic failure), a removable medication or toxin (eg, selective serotonin reuptake inhibitors, opioids), an excisable lesion (eg, thoracic meningioma for spinal myoclonus), or functional jerks due to functional neurological symptom disorder (conversion disorder).
  • #1 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
    EEG is helpful for the diagnosis of epileptic myoclonus. […] 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. […] Electrophysiological testing is an important tool in the diagnosis and anatomical classification of myoclonus, and subsequently aiding in decision-making regarding therapeutic management.
  • #2 Classification and evaluation of myoclonus – UpToDate
    https://www.uptodate.com/contents/classification-and-evaluation-of-myoclonus
    Classification and evaluation of myoclonus […] Myoclonus is a clinical sign that is characterized by brief, shock-like, involuntary movements caused by muscular contractions or inhibitions. Muscular contractions produce positive myoclonus, whereas muscular inhibitions produce negative myoclonus (ie, asterixis). Patients will usually describe myoclonus as consisting of „jerks,” „shakes,” or „spasms.” […] Myoclonic movements have many possible etiologies, anatomic sources, and pathophysiologic features. Myoclonus may be classified by clinical presentation, examination findings, clinical neurophysiology testing, and etiology. […] This classification paradigm can help with localization of the underlying lesion, aid in the diagnosis of certain disorders that have a characteristic myoclonus physiology, and guide treatment options that may be useful for some physiologic types of myoclonus but not others.
  • #2 Myoclonic disorders: a practical approach for diagnosis and treatment
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3036960/
    It is important to establish the presumed origin of myoclonus (cortical, subcortical, spinal or peripheral) in order to choose the most effective treatment. […] The treatment of myoclonus depends on the underlying disorder. Reversible causes of myoclonus include some toxicmetabolic states, drug intoxications or surgically treatable lesions, however in the majority of cases, the underlying cause is not correctable and symptomatic treatment is the only possibility. […] Myoclonus is a clinical sign that may be found in a number of different diseases. To provide a framework to match a patients myoclonus to its aetiology, it is necessary to take a good history and to perform a detailed neurological examination, before deciding which additional tests are needed.
  • #2 Myoclonus: Types, Causes, Symptoms, and Treatment
    https://www.webmd.com/multiple-sclerosis/myoclonus-muscle-twitching
    Myoclonus Diagnosis […] To try to figure out the cause, they’ll ask you questions about your health history and which parts of your body have spasms. […] To get more information, your doctor may suggest tests like: […] Electroencephalogram (EEG). This painlessly tracks and records the patterns of electrical activity in your brain to figure out where the myoclonus starts. […] Electromyography (EMG). This test checks the health of your muscles and the nerve cells that control them. […] Magnetic resonance imaging (MRI). Your doctor can use this test to get detailed pictures of your brain, spinal cord, and other body parts that might be involved. […] If another health condition is causing your spasms, your doctor will try to treat it. If it can’t be cured, then your doctor will work on lessening your symptoms.
  • #2 Assessment and Treatment of Myoclonus: A Review – touchNEUROLOGY
    https://touchneurology.com/movement-disorders/journal-articles/assessment-and-treatment-of-myoclonus-a-review/
    Myoclonus is defined as sudden, brief, shock-like contractions of muscles, and it can be a challenging diagnosis for the clinician to face. […] Neurophysiological classification of myoclonus, using both electroencephalogram and electromyography, can be very helpful in elucidating the underlying aetiology. […] The purpose of this article is to assist the clinician in understanding the aetiologies of myoclonus, as well as to serve as a guide in the diagnostic workup and treatment of myoclonus. […] Myoclonus classification is based on multiple characteristics, most commonly including aetiology, anatomical distribution and physiology. […] Neurophysiological testing for myoclonus helps to further localize the abnormal activation within the nervous system. […] Electroencephalogram (EEG) is an essential part of the workup for myoclonus, as myoclonus can be epileptic and most commonly arises from cortical or cortical-subcortical physiology.
  • #2 Electrophysiologic Assessments of Involuntary Movements: Tremor and Myoclonus
    https://www.e-jmd.org/journal/view.php?number=93
    Myoclonus is a quick, involuntary movement. […] Electrophysiological studies may helpful in the evaluation of myoclonus, not only for confirming the clinical diagnosis but also for understanding the underlying physiological mechanisms. […] Electroencephalogram (EEG)-EMG correlates can give us important information about myoclonus. […] Myoclonus can be classified in various ways, depending on which aspect is focused on but it is usually classified with the underlying physiologic mechanism or the causation. […] According to the pathophysiologic mechanisms, myoclonus is classified into three main categories; cortical, subcortical, and spinal. […] Electrophysiological studies can show an anatomical localization for myoclonus. […] The anatomical origin of the myoclonus sometimes provides good hints as to the treatment.
  • #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
    Electrophysiological techniques have been used for discriminating myoclonus from other hyperkinetic movement disorders and for classifying the myoclonus subtype. […] This study included 50 cases with myoclonus of different causes with mean age of 39.315.7 and consisted of 23 males and 27 females. […] There was a significant difference regarding the presence of EEG findings in epileptic myoclonic and non-epileptic myoclonic groups (P=0.005). […] Somatosensory evoked potential and electroencephalography are important for the diagnosis and anatomical sub-classification of myoclonus and so may help in decision-making regarding to the subsequent management. […] Recognition of myoclonus and determination of the underlying etiology remains challenging. […] The differentiation of myoclonic jerks from other hyperkinetic movement disorders sometimes may be difficult.
  • #2 Myoclonus | Baylor Medicine
    https://www.bcm.edu/healthcare/specialties/neurology/parkinsons-disease-and-movement-disorders/myoclonus
    Myoclonus is the medical term for sudden, rapid, brief, involuntary jerking movement of a body part or the entire body. […] Many different neurological disorders can cause myoclonus; therefore, neurologists consider it a symptom of disease rather than a specific diagnosis. […] Classifying the many different kinds of myoclonus is difficult, as the causes, clinical effects, and responses to treatment vary greatly. […] The diagnostic approach to a patient with myoclonus has two objectives: (1) identifying what part of the nervous system is producing myoclonus and (2) establishing the cause. […] Physicians may order certain tests to learn what is causing the myoclonus. […] Although some cases of myoclonus are caused by an injury to the peripheral nerves, most forms of myoclonus are caused by a disturbance of the central nervous system.
  • #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
    EEG is helpful for the diagnosis of epileptic myoclonus. […] 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. […] Electrophysiological testing is an important tool in the diagnosis and anatomical classification of myoclonus, and subsequently aiding in decision-making regarding therapeutic management.
  • #2 Myoclonus | Neurology & Neurosurgery | Loyola Medicine
    https://www.loyolamedicine.org/services/neurology-and-neurosurgery/conditions/movement-disorders/myoclonus
    Myoclonus can result from different types of brain and nerve conditions, like epilepsy or brain trauma. […] A neurology specialist diagnoses myoclonus after reviewing a patients medical history and systems and completing a physical examination. To confirm the condition, the doctor may request certain testing, including: Electroencephalography (EEG), Electromyography (EMG), Magnetic resonance imaging (MRI), Laboratory testing for underlying conditions.
  • #2 Myoclonus: Causes, Types, and Treatment
    https://www.healthline.com/health/myoclonus
    Myoclonus is a sudden and involuntary muscle spasm. […] How is myoclonus diagnosed? […] Several tests can help identify and diagnose the cause of myoclonus. After an initial physical examination, a doctor also may request any of the following tests: […] electroencephalography (EEG) to record the electrical activity of the brain […] MRI or CT scan to determine whether structural problems or tumors are present […] electromyogram (EMG) to measure the electrical impulses in muscles to determine the pattern of myoclonus […] laboratory tests to look for the presence of conditions that may be contributing to myoclonus, such as: diabetes mellitus, metabolic disorders, autoimmune disease, kidney or liver disease, drugs or toxins. […] If myoclonus is caused by an underlying condition, a doctor will attempt to treat that condition first.
  • #2 Myoclonus – Brain, Spinal Cord, and Nerve Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/brain-spinal-cord-and-nerve-disorders/movement-disorders/myoclonus
    Myoclonus refers to quick, lightning-like jerks (contractions) of a muscle or a group of muscles. […] Doctors diagnose myoclonus based on symptoms and do blood tests, electromyography, and/or magnetic resonance imaging to identify the cause. […] The diagnosis of myoclonus is based on symptoms. […] Testing is usually done to identify the cause: Blood tests are usually done to check kidney and liver function and to measure the level of sugar, calcium, magnesium, or sodium in the blood. Abnormal levels of these substances may indicate that the cause is a metabolic disorder. […] Magnetic resonance imaging may be done to check for abnormalities in the brain, such as those caused by Alzheimer disease or Creutzfeldt-Jacob disease. […] Electroencephalography may be done to check for myoclonus in people with a seizure disorder.
  • #2 Diagnosis and management of Myoclonus Dystonia Syndrome: a Survey of the European Reference Network for Rare Neurological Diseases. – MDS Abstracts
    https://www.mdsabstracts.org/abstract/diagnosis-and-management-of-myoclonus-dystonia-syndrome-a-survey-of-the-european-reference-network-for-rare-neurological-diseases/
    Diagnosis and management of Myoclonus Dystonia Syndrome: a Survey of the European Reference Network for Rare Neurological Diseases. […] To evaluate the diagnostic and treatment strategies in Myoclonus Dystonia Syndrome (MDS) used by experts from the European Reference Network for rare neurological diseases (ERN-RND). […] MDS is a rare genetic movement disorder characterized by myoclonus, dystonia, and psychiatric comorbidity. […] No targeted therapies are available and oral medications have limited efficacy. […] A systematic assessment is usually followed and early genetic confirmation is offered in most cases. […] There are variable opinions about pharmacological treatments, and most of them are found to have limited efficacy for motor and non-motor symptoms. […] Botulinum toxin and DBS are identified as options in selected patients.
  • #2 Myoclonus | National Institute of Neurological Disorders and Stroke
    https://www.ninds.nih.gov/health-information/disorders/myoclonus
    Myoclonus can also be categorized based on where the movement starts in the nervous system. […] After reviewing a persons medical history and a physical exam, a doctor may order the following tests to confirm a diagnosis of myoclonus: […] There are no medications designed to specifically treat myoclonus, but medications that reduce an overactive nervous system are generally used to relieve symptoms. […] Myoclonus may also happen with infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, chemical or drug intoxication, lipid storage diseases, autoimmune inflammatory conditions, COVID-19, or metabolic disorders. […] Studies suggest that myoclonus usually begins in the cerebral cortex. However, scientists dont yet fully understand the specific factors that cause myoclonus.
  • #2 Myoclonic Seizure: What It Is, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/23172-myoclonic-seizure
    Myoclonic seizures are a type of seizure that causes sharp, uncontrollable muscle movements. […] Myoclonic seizures usually occur as a result of epilepsy. This condition makes it easier for your brain cells to malfunction and start sending electrical signals uncontrollably. […] A healthcare provider will usually suspect myoclonic seizures based on symptoms you describe to them (when either you have symptoms or you see symptoms in your child). Once they suspect myoclonic seizures, several different types of tests can help rule out other conditions and confirm that these seizures are happening. […] The main way to diagnose myoclonic seizures is using a test called an electroencephalogram (EEG) or video-EEG. This test measures electrical activity in your brain, looking for unusual activity patterns that indicate a problem with how your brain works.
  • #2 Functional Jerks and Twitches – Functional Neurological Disorder (FND)
    https://neurosymptoms.org/en/symptoms/fnd-symptoms/functional-jerks-and-twitches/
    Functional myoclonus refers to sudden jerky or shock-like movements that occur as part of a functional movement disorder. […] Myoclonus is a symptom found in a wide range of neurological diseases as well as some normal states. […] The diagnosis of functional myoclonus is usually made by a neurologist. It can be a difficult diagnosis to make because it requires expert knowledge of the full range of jumps and jerks due to neurological disease, many of which are unusual. […] The following are some examples of things a neurologist would look for to diagnose functional myoclonus: Jerks of the trunk (i.e. the body) rather than the legs. […] Sudden onset of the condition out of the blue with no other obvious disease cause. […] Over half of patients with functional myoclonus describe warning symptoms before some of their jerks. […] The treatment of functional myoclonus is quite challenging. […] Many patients with functional myoclonus find that it is a problem which persists. But its certainly worth trying to improve it. Even knowing what it is can give people valuable peace of mind.
  • #2 Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort | Neurología (English Edition)
    https://www.elsevier.es/en-revista-neurologia-english-edition–495-articulo-opsoclonus-myoclonus-syndrome-clinical-characteristics-therapeutic-S2173580822001699
    Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. […] The mean time from onset to diagnosis was 1.1 months. […] In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. […] Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset. […] Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a probably neuroimmunological disease defined clinically according to the presence of motor symptoms; the cardinal symptoms are ataxia, myoclonus (muscle jerks of central origin), and opsoclonus (erratic, multidirectional eye movements).
  • #2 Opsoclonus Myoclonus Syndrome/Dancing Eye syndrome (OMS/DES) | Great Ormond Street Hospital
    https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/opsoclonus-myoclonus-syndrome-dancing-eye-syndrome-omsdes/
    Opsoclonus myoclonus syndrome (OMS), also known as dancing eye syndrome (DES), is a rare neurological condition which develops over days or weeks in early childhood. […] The occurrence of marked irritability with behavioural change and sleep disturbance in an infant with new onset ataxia is one of the strongest clues that this may be OMS/DES. […] The symptoms of opsoclonus myoclonus syndrome are very variable and may not all be present at the same time. Typically opsoclonus myoclonus appears around the age of one to two years but can occur at any time in childhood. […] There is much discussion around how best to diagnose opsoclonus myoclonus syndrome and recently diagnostic criteria have been agreed. To be diagnosed with opsoclonus myoclonus syndrome, a child must have three of the following four conditions: rapid eye movement (opsoclonus or ocular flutter), ataxia (unsteadiness) or jerky muscle spasms (myoclonus), behavioural or sleep problems and neuroblastoma.
  • #2
    https://www.dystonia.org.uk/pages/faqs/category/myoclonus-dystonia
    Myoclonus dystonia is a neurological movement disorder characterised by the combination of dystonia (continuous or intermittent muscle contractions which cause abnormal, often painful, repetitive movements) usually in the arms, trunk, and neck with myoclonus. Myoclonus is the term used to describe brief lightning-like jerks by the body. The term is the description of a symptom not an underlying condition and myoclonus has several different causes. […] Symptoms of myoclonus dystonia include: abnormal, sometimes painful, repetitive movements usually in the arms, trunk, and neck; myoclonic jerks; psychological symptoms such as obsessive-compulsive disorder, anxiety or lowered mood (depression). (These psychological impacts are more likely if the myoclonus dystonia is caused by a mutation within the DYT11 gene.)
  • #2 Orphanet: Myoclonus-dystonia syndrome
    https://www.orpha.net/en/disease/detail/36899
    Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like’ myoclonic jerks. […] Diagnosis is based on the presence of characteristic clinical symptoms. Neuroimaging studies are normal. Genetic molecular testing of SGCE can confirm the diagnosis. […] 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. Benzodiazepines (clonazepam) and antiepileptic drugs (valproate, levetiracetam) are effective in relieving myoclonus and tremor, but patients should be carefully monitored.
  • #2 PROGRESSIVE MYOCLONUS EPILEPSIES (PME)
    https://www.epilepsydiagnosis.org/syndrome/pme-overview.html
    The syndrome progressive myoclonus epilepsies is rare, and composes a group of etiologies that have in common 1) myoclonic seizures that are treatment-resistant, 2) progressive neurological and cognitive deterioration, and 3) slowing of the EEG background that 4) appears in an individual with prior normal development and cognition. […] There are many metabolic and genetic causes of this syndrome. The cause may remain unknown for some patients. […] The majority of cases are caused by: […] Unverricht-Lundborg disease – the commonest cause, seizures begin […] Lafora disease – seizures begin […] Neuronal ceroid lipofuscinoses – this is a group of conditions resulting in accumulation of lipopigments (lipofuscin), now classified by the causative gene. The most prevalent is CLN2 disease. This NCL has onset between 2-4 years, can present with speech delay before seizure onset, then there is developmental regression and vision loss, EEG can show a photoparoxysmal response at low flash frequencies, curvilinear bodies can be seen in cells (e.g. skin, lymphocytes).
  • #2 PROGRESSIVE MYOCLONUS EPILEPSIES (PME)
    https://www.epilepsydiagnosis.org/syndrome/pme-overview.html
    Mitochondrial disorders – myoclonic epilepsy with ragged-red fibers, POLG-related disorders, and mitochondrial encephalopathy with lactic acidosis and stroke-like episodes. […] Less common causes: dentatorubo-pallidoluysian atrophy, juvenile Huntingtons, action-myoclonus-renal failure syndrome, juvenile neuroaxonal dystrophy, pantothenate-kinase associated neurodegeneration, neuroserpin inclusion body disease, leukoencephalopathy with vanishing white matter, early-onset Alzheimers, GOSR2 pathogenic variants and rarer metabolic disorders (GM2 gangliosidoses, tetrahydrobiopterin deficiency, non-infantile neuronopathic Gaucher’s disease and Niemann Pick type C).
  • #2 Benign Neonatal Sleep Myoclonus Workup: Approach Considerations
    https://emedicine.medscape.com/article/1355567-workup
    Benign neonatal sleep myoclonus (BNSM) closely mimics seizures, so it often prompts hospital admission and extensive diagnostic testing, including neurophysiologic studies, brain imaging, and screening for infection. A clear understanding of the condition is crucial to avoid unnecessary testing. […] Once BNSM is identified, no imaging studies are indicated. If epilepsy or seizures remain a concern, MRI is the study of choice in infants. […] If seizures remain a consideration, performing EEG is appropriate. Prolonged EEG monitoring, during multiple sleep/wake cycles potentially allows for time-locked data collection during episodes, making this the optimal study for infants in whom diagnostic confusion remains.
  • #2 Myoclonus – Neurologic Disorders – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/neurologic-disorders/movement-and-cerebellar-disorders/myoclonus
    Myoclonus is a brief, shocklike contraction of a muscle or group of muscles. Diagnosis is clinical and sometimes confirmed by electromyographic testing. Treatment includes correction of reversible causes and, when necessary, oral medications to relieve symptoms. […] Diagnosis of myoclonus is clinical. Testing is done based on clinically suspected causes. Brain imaging is done. […] Treatment of myoclonus begins with correction of underlying metabolic disturbances or other causes if correctable. If a medication is the cause, the medication is stopped, or the dose is reduced. […] Site of origin for myoclonus helps guide symptomatic treatment. For example, valproate, levetiracetam, and piracetam tend to be effective in cortical myoclonus but ineffective in other types of myoclonus. Clonazepam may be effective in all types of myoclonus. Doses of clonazepam or valproate may need to be lower in older adults. In some cases, a combination of medications is necessary. […] If a metabolic disturbance is the cause, correct it, and when necessary, give medications (eg, clonazepam, valproate, levetiracetam) to relieve symptoms.
  • #2 The Importance of Identifying Myoclonus in the Setting of Mental Status Abnormalities: Differential Diagnosis and Treatment
    https://www.psychiatrist.com/pcc/myoclonus-and-mental-status-abnormalities/
    The key to the initial evaluation is to identify whether the myoclonus is most likely a primary process, epileptic in etiology, or secondary to another medical process. […] If the etiology of myoclonus is not immediately revealed by the history and physical examination, selected diagnostic tests should be performed in a step-wise fashion, guided by the differential diagnosis. […] The treatment for myoclonus is predicated on its underlying etiology. […] In instances in which the myoclonus is a primary process or the underlying etiology cannot be easily reversed, treatments are directed toward the underlying mechanism of the myoclonus. […] Accepted therapies for cortical myoclonus include levetiracetam, piracetam, clonazepam, and valproic acid. […] Given their relatively favorable side effect profiles, levetiracetam and piracetam are the preferred initial agents for chronic cortical myoclonus, although multiple agents (in combination) are often needed to achieve the desired effect.
  • #2 Assessment and Treatment of Myoclonus: A Review – touchNEUROLOGY
    https://touchneurology.com/movement-disorders/journal-articles/assessment-and-treatment-of-myoclonus-a-review/
    By using the aforementioned neurophysiological testing procedures, one can classify myoclonus as cortical, cortical-subcortical, subcortical-nonsegmental, segmental and peripheral. […] A structured clinical approach is useful to ensure that all potential aetiologies are investigated for each patient. […] Following the history and physical examination, ancillary testing is the next step in identifying possible aetiologies in patients with myoclonus. […] Treatment of myoclonus differs vastly depending on the aetiology. […] Treatment should be directed at any underlying cause of myoclonus where possible or feasible. […] When no other treatable cause is found, treatment for myoclonus should be targeted at specific neurophysiological classifications.
  • #2
    https://journals.lww.com/annalsofian/fulltext/2021/24030/myoclonus__a_review.5.aspx
    Myoclonus can be classified in various ways according to body distribution, relation to activity, neurophysiology, and etiology. […] Given the diverse etiologies of myoclonus, a thorough history and detailed physical examination are key to the evaluation of myoclonus. […] Though symptomatic treatment is required in the majority of cases, treatment of the underlying etiology should be the primary aim whenever possible. […] The first critical step in evaluation is a thorough history and physical examination. […] After a comprehensive history and physical examination, one should be able to define the etiological classification of myoclonus (physiological, essential, epileptic, or symptomatic). […] Neurophysiological testing helps in identifying the presumed physiology of myoclonus. […] The most important factor in the management of myoclonus is the treatment of underlying etiology.
  • #2 Myoclonus: What It Is, Causes, Symptoms, Treatment & Types
    https://my.clevelandclinic.org/health/symptoms/15301-myoclonus-muscle-twitch
    Diagnosing this condition requires an electroencephalogram (EEG). This condition can look similar to seizures, but EEG testing in babies with BNSM wont show seizure activity in their brains. This condition is harmless. About 95% of cases go away by 6 months of age. […] Myoclonus is a brief, sudden muscle movement (like a twitch or spasm). If you notice muscle jerks that are new and/or getting more frequent, you should talk to a healthcare provider. Theyre the best person to help you discover why youre experiencing this and what you can do about it. Many causes of myoclonus are treatable, and early diagnosis and treatment can make a big difference in keeping this conditions effects on your life to a minimum.